Maria Foschini
Università di Bologna, DIBINEM, Faculty Member
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Stromal tumour infiltrating lymphocytes (sTILs) are a strong prognostic marker in triple negative breast cancer (TNBC). Consistency scoring sTILs is good and was excellent when an internet-based scoring aid developed by the TIL-WG was... more
Stromal tumour infiltrating lymphocytes (sTILs) are a strong prognostic marker in triple negative breast cancer (TNBC). Consistency scoring sTILs is good and was excellent when an internet-based scoring aid developed by the TIL-WG was used to score cases in a reproducibility study. This study aimed to evaluate the reproducibility of sTILs assessment using this scoring aid in cases from routine practice and to explore the potential of the tool to overcome variability in scoring. Twenty-three breast pathologists scored sTILs in digitized slides of 49 TNBC biopsies using the scoring aid. Subsequently, fields of view (FOV) from each case were selected by one pathologist and scored by the group using the tool. Inter-observer agreement was good for absolute sTILs (ICC 0.634, 95% CI 0.539–0.735, p < 0.001) but was poor to fair using binary cutpoints. sTILs heterogeneity was the main contributor to disagreement. When pathologists scored the same FOV from each case, inter-observer agreeme...
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The presence of a limited number of cells with HER-2 amplification (Subclonal Amplification) in breast carcinomas is occasionally encountered, but its prognostic impact is poorly known. The purpose of this study is to evaluate the... more
The presence of a limited number of cells with HER-2 amplification (Subclonal Amplification) in breast carcinomas is occasionally encountered, but its prognostic impact is poorly known. The purpose of this study is to evaluate the prognostic impact of HER-2 Subclonal Amplification in a retrospective series of breast cancers. Accordingly, 81 consecutive breast carcinomas showing HER-2 Subclonal Amplification were obtained from the histology files (case series). These cases were subdivided into two groups: (a) those cases in which the HER-2 Subclonal Amplification was consonant to the accepted criteria for amplification, showing clusters of amplified cells, and (b) those cases with rare HER-2 Subclonal Amplification that did not reflect the accepted criteria for amplification, showing scattered amplified cells only. The incidence of metastases and late recurrences of the case series was compared with a series composed of 109 consecutive cases, being HER-2 homogeneous (comprising 14 Am...
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Thirteen cases of invasive solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (BPTC) are reported here. Some cases had long-term follow-up. BPTC is a special type of primary breast neoplasm... more
Thirteen cases of invasive solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (BPTC) are reported here. Some cases had long-term follow-up. BPTC is a special type of primary breast neoplasm showing a triple-negative profile but low aggressive potential. Knowledge on BPTC is still scanty; therefore, the aim of the present paper was to report on the features of an additional 13 cases. All the patients were female individuals, and the mean age at presentation was 62.6 years; nodule sizes ranged from 0.6 to 2.5 cm (average, 1.6 cm). All the cases were characterized on histology by papillary, follicular as well as solid structures. The cells were columnar, eosinophilic mostly with granular cytoplasms, rich in mitochondria, with the features of oncocytes in no fewer than 7 cases. Estrogen and progesterone receptors as well as HER2 were consistently negative. The Ki67 proliferative index was low. Markers consistent with thyroid origin, such as...
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Merkel cell carcinoma is a rare cutaneous, aggressive tumor. Although it shares many neuroendocrine features with small cell lung carcinoma, it has only occasionally been reported with paraneoplastic neurological syndromes. A healthy... more
Merkel cell carcinoma is a rare cutaneous, aggressive tumor. Although it shares many neuroendocrine features with small cell lung carcinoma, it has only occasionally been reported with paraneoplastic neurological syndromes. A healthy 67-year-old man developed acute ataxia, vertigo, and nausea. Subsequently he also developed dysarthria, diplopia, xerostomia, fatigability and progressive anorexia. He underwent a full diagnostic workup and was found to have a high titer of voltage-gated calcium channel antibodies in serum and cerebrospinal fluid, neurophysiological findings compatible with Lambert-Eaton myasthenia and neurological signs compatible with cerebellar degeneration. A positron emission tomography study revealed a hypermetabolic lesion in the axilla, subsequently biopsied and consistent with Merkel cell carcinoma. In most previous reports, neurological symptoms preceded the Merkel cell carcinoma diagnosis, and the primary localization was in lymph nodes. This tumor should be ...
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The spectrum of corticotroph cell adenomas is very wide. Though rarely, silent corticotroph cell adenomas (SCA) may transform into corticotroph cell adenomas associated with Cushing&amp;amp;amp;amp;amp;amp;#39;s disease (CD). The aim... more
The spectrum of corticotroph cell adenomas is very wide. Though rarely, silent corticotroph cell adenomas (SCA) may transform into corticotroph cell adenomas associated with Cushing&amp;amp;amp;amp;amp;amp;#39;s disease (CD). The aim of the study was to investigate the role of prohormone convertase 1/3 (PC1/3) in the transformation of SCA into CD. We reviewed the records of 1259 consecutive endoscopic endonasal procedures for pituitary adenomas from 1998 to 2013. Of these, 132 were CD and 44 were SCA. During the follow-up, three patients with SCA showed a clear transformation from SCA into CD and underwent surgery once again to remove the recurrent tumour. The PC1/3 expression was analysed by both immunohistochemistry and quantitative real time-polymerase chain reaction (qRT-PCR) in primary and recurrent tumours. The immunohistochemical PC1/3 expression was negative or weak in the three patients in the initial phase of SCA, while a strong expression was observed in the majority of neoplastic cells in tissue specimens obtained from the same three patients at the time of recurrence as CD. The immunohistochemical PC1/3 expression showed a strict correlation with the PC1/3 levels obtained by qRT-PCR. In 14 cases of SCA with no change of phenotype during the follow-up, the immunohistochemical PC1/3 expression was low and strictly associated with the level of PC1/3 obtained by qRT-PCR both in primary (14/14 cases) and in recurrent tumours (4/4 cases). Our study provides insight into the crucial role of the PC1/3 protein in the transformation of phenotype from SCA to CD.
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Perineural invasion (PNI) hinders the ability to establish local control of oral squamous cell carcinoma (OSCC). To date, PNI can be evaluated only in surgical specimens and not in preoperative biopsy material, rendering timely... more
Perineural invasion (PNI) hinders the ability to establish local control of oral squamous cell carcinoma (OSCC). To date, PNI can be evaluated only in surgical specimens and not in preoperative biopsy material, rendering timely therapeutic planning impossible. Insulin-like growth factor-II mRNA binding protein-3 (IMP3) expression appears to be of diagnostic and prognostic utility for many solid tumours, and laminin-5 expression in surgical specimens has been identified as a valid predictor of neural spread of head-and-neck neoplasms. The ability to use preoperative biopsy material to identify patients exhibiting PNI is fundamental for good management of OSCC. We examined a series of 64 consecutive patients treated (primarily via surgery) for OSCC between 2009 and 2014 at the Maxillofacial Surgery Unit, University of Bologna. We evaluated IMP3 and laminin-5 expression in preoperative biopsy material using immunohistochemistry and quantitative reverse transcription polymerase chain reaction. We sought to correlate expression of IMP3 and laminin-5 with PNI evident in surgical specimens. Expression of IMP3 and laminin-5 in preoperative biopsy material appeared to be predictive of PNI in patients with OSCC (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). Additionally, the results of multivariate analyses showed that IMP3 status was an independent predictor of death of patients with OSCC (P = 0.001). The present study demonstrates that IMP3 and laminin-5 expression in preoperative biopsy material correlate well with PNI status and may allow accurate preoperative risk stratification of patients with OSCC.
Research Interests: Dentistry, Biopsy, Humans, Female, Male, and 14 moreSquamous Cell Carcinoma, Risk factors, Clinical Sciences, Aged, Middle Aged, Neoplasm Invasiveness, Mouth Neoplasms, Adult, RNA-binding proteins, ORAL AND CRANIO-MAXILLOFACIAL PLASTIC SURGERY, Prognosis, Risk Factors, Cell Adhesion Molecules, and reverse transcriptase polymerase chain reaction
The aggressive behavior of oral squamous cell carcinoma (OSCC) has recently been related to the mucosa surrounding the primary mass, consisting of genetically altered cells that might be responsible for cancer progression. The aim of the... more
The aggressive behavior of oral squamous cell carcinoma (OSCC) has recently been related to the mucosa surrounding the primary mass, consisting of genetically altered cells that might be responsible for cancer progression. The aim of the study was to determine whether an abnormal cell turnover in clinically and histologically &amp;amp;amp;amp;amp;amp;quot;normal&amp;amp;amp;amp;amp;amp;quot; mucosa distant from the primary tumor is associated with a poor prognosis in terms of locoregional control (LRC) of disease and disease-specific survival (DSS). This prospective study monitored 55 OSCC patients. Cell turnover in areas clinically and histologically distant from the tumor mass was evaluated by immunohistochemical expression of Ki67. A Ki67 value &amp;amp;amp;amp;amp;amp;gt;20% was considered &amp;amp;amp;amp;amp;amp;quot;high.&amp;amp;amp;amp;amp;amp;quot; The mean follow-up period of the population studied was 53.7 ± 32.4 months (range 12-110 months). Multivariate analysis showed that the Ki67 value in distant mucosa was a powerful independent prognostic factor for LRC. In addition, high Ki67 expression in distant mucosa was the only variable statistically related to worse LRC (χ(2) = 9.5; p = 0.002) and DSS (χ(2) = 5.51; p = 0.02) in T1-2N0 OSCCs. The present study confirmed the role of Ki67 in tumor-distant areas as a prognostic marker for OSCC patients.
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To illustrate the role of p63 and its truncated variants in salivary gland tumors, 23 consecutive tumors and 6 normal salivary glands were studied immunohistochemically with anti-p63 antibody and by reverse transcriptase (RT) and nested... more
To illustrate the role of p63 and its truncated variants in salivary gland tumors, 23 consecutive tumors and 6 normal salivary glands were studied immunohistochemically with anti-p63 antibody and by reverse transcriptase (RT) and nested polymerase chain reaction (PCR) to detect p63 isoform expression. Normal salivary glands: p63 antibody-stained basal and myoepithelial cells; by RT and nested PCR, the 2 main isoforms were present, whereas DeltaNp73L was absent. Tumors: p63 antibody was positive in the following: Warthin tumor (WT) (3/3), oncocytoma (OC) (1/1), pleomorphic adenoma (PA) (7/7), polymorphous-low-grade adenocarcinoma (PLGA) (3/3), adenoid-cystic carcinoma (ADCC)(3/4), epithelial-myoepithelial-cell carcinoma (EMC) (1/1), and myoepithelial-cell carcinoma (MCC) (1/1). By RT and nested PCR all tumors expressed p63 irrespective of their morphologic differentiation. The DeltaNp73L isoform was present in tumoral tissue but absent in normal salivary gland. These data suggest that p63, particularly its splice variant DeltaNp73L, is involved in the neoplastic transformation of salivary glands.
Research Interests: Polymorphism, Immunohistochemistry, Humans, Female, Male, and 15 morePolymerase Chain Reaction, Adenoid cystic carcinoma, Clinical Sciences, Aged, Middle Aged, Adult, Protein isoforms, Cell Proliferation, Reverse Transcriptase, DNA binding proteins, Nested PCR, Adenocarcinoma, pleomorphic adenoma, reverse transcriptase polymerase chain reaction, and Myoepithelioma
A case of endobronchial pagetoid spread of a breast carcinoma metastatic to the lung is described. A 73-year-old woman underwent wedge lung resection after the cytological diagnosis of lung metastasis from ductal invasive breast... more
A case of endobronchial pagetoid spread of a breast carcinoma metastatic to the lung is described. A 73-year-old woman underwent wedge lung resection after the cytological diagnosis of lung metastasis from ductal invasive breast carcinoma. The breast carcinoma had been surgically removed 6 years previously; at the time of diagnosis it was a T1N0, grade 3 invasive ductal carcinoma, with HER-2 amplification. The lung metastasis measured 1,9 cm and showed the same histology and biological profile of the primary tumor. In addition, numerous neoplastic cells, with large cytoplasm and atypical nuclei, appear to spread along the mucosa of the bronchi adjacent to the metastatic lesion as well as that of the main lobar bronchus, intermingled with the columnar ciliated cells. The neoplastic elements were negative for TTF-1 and strongly HER-2 positive; these features appeared consistent with endobronchial pagetoid spread by the metastatic breast carcinomatous cells.
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Thirty-four cases of fetal Dandy-Walker malformation recognized in utero with ultrasound between 16 and 37 weeks&#39; gestation are reported. In each case a qualitative examination of the posterior fossa structures was performed,... more
Thirty-four cases of fetal Dandy-Walker malformation recognized in utero with ultrasound between 16 and 37 weeks&#39; gestation are reported. In each case a qualitative examination of the posterior fossa structures was performed, including the cerebellar hemispheres, cerebellar vermis, fourth ventricle and cisterna magna. In each case, the transverse cerebellar diameter and the depth of the cisterna magna were measured in a standard transcerebellar view of the fetal brain. The atrial width of the lateral ventricles was also assessed. The transverse cerebellar diameter was abnormal in 15 cases, the cisterna magna depth was abnormal in 33, and the atrial width was abnormal in 30. It is concluded that measurement of the transverse cerebellar diameter is unreliable in predicting fetal Dandy-Walker malformation. Measurements of the cisterna magna and atrium seem to be more valuable, although the real sensitivity remains unclear. In pregnancies at risk for fetal Dandy-Walker malformation, the sonographic examination should not be limited to the cerebral ventricles and transcerebellar view but should include a detailed evaluation of all the different anatomical components of the posterior fossa, especially the fourth ventricle and inferior cerebellar vermis.
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This study reports six non-Hodgkin's lymphoma cases that we called histiocyte-rich B-cell lymphoma (BCL) because of the prominent reactive histiocytic infiltrate obscuring the malignant B-cell population. The involved lymph nodes are... more
This study reports six non-Hodgkin's lymphoma cases that we called histiocyte-rich B-cell lymphoma (BCL) because of the prominent reactive histiocytic infiltrate obscuring the malignant B-cell population. The involved lymph nodes are characterized by a mixed nodular and diffuse infiltrate and occasionally feature prominent sinuses. The infiltrate is composed of reactive lymphocytes and numerous histiocytes obscuring a tumor population composed of variably sized scattered cells with irregular or multilobar vesicular nuclei. Immunostaining of paraffin sections for the B-cell marker recognized by L26 helps in the identification of these neoplastic cells. The clonal nature and further evidence of the B-cell lineage of this condition is shown by immunoglobulin gene rearrangements detected in three cases. The six cases of histiocyte-rich BCL are remarkably similar clinically: all presented with stage IVB disease with splenomegaly and follow an aggressive clinical course. Except for these features, our series show striking similarities to paragranuloma lymphocyte-predominant Hodgkin's disease, including male preponderance (all patients are male), age distribution (mean age, 41 years), propensity to progress to a diffuse, large B-cell lymphoma (two cases), as well as morphology of the neoplastic B-cell population and expression of Hodgkin's cell markers (Leu-M1 positivity after neuraminidase digestion in three cases, Leu-M1 positivity without neuraminidase digestion in one case, and additional epithelial membrane antigen [EMA] positivity in two cases). Both morphologically and clinically, the present series can be differentiated from other types of infiltrate-rich BCL, such as T-cell-rich BCL. Although additional cases will have to be recognized, histiocyte-rich B-cell lymphoma most likely represents a distinct clinicopathological entity. We speculate that it develops from a subset of B cells that also gives rise to the lymphocytic-histiocytic (L/H) cell, the Hodgkin's cell variant of lymphocyte-predominant Hodgkin's disease, paragranuloma subtype.
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Nonfunctioning thyroid nodules (NFTNs) display a diminished iodide-concentrating ability, owing to defective expression and cell membrane targeting of the sodium-iodide symporter (NIS). Since NIS expression is primarily modulated by... more
Nonfunctioning thyroid nodules (NFTNs) display a diminished iodide-concentrating ability, owing to defective expression and cell membrane targeting of the sodium-iodide symporter (NIS). Since NIS expression is primarily modulated by thyroid iodine content in vitro and in animal models, we attempted to determine whether iodine supply influences the expression and localization of human NIS (hNIS) in NFTNs. Using immunohistochemistry, we analyzed cold hyperplastic nodules and nonnodular thyroid samples (controls) from patients living in iodine-sufficient (n = 19) or severely iodine-deficient (n = 15) areas. Nodules from the iodine-sufficient area exhibited weak or absent hNIS immunostaining whereas almost all nodules from the iodine-deficient area were hNIS positive. Heterogeneous hNIS staining was common among the iodine-deficient samples (p = 0.028). hNIS was localized on membrane in all nodular samples from the iodine-deficient area and in less than 40% in the iodine-sufficient area. hNIS is adequately expressed and appropriately localized in NFTNs cell membrane from iodine-deficient areas and its expression in vivo is modulated by iodine supply.
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Research Interests: Dentistry, Surgery, Cancer, Treatment, Stem Cell, and 15 moreHepatitis C, Humans, Female, Squamous Cell Carcinoma, Follow-up studies, Bone Marrow Transplantation, Mouth Neoplasms, Adult, Multiple, Oral Squamous Cell Carcinoma, Oral Cavity, Beta Thalassemia, Hematopoietic Stem Cell Transplantation, Thalassemia Major, and Tongue neoplasms
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Research Interests: Genetics, Dentistry, Cancer, Linear models, Multivariate Analysis, and 15 moreHumans, Female, Male, Aged, Middle Aged, Neoplasm Invasiveness, Mouth Neoplasms, Mouth mucosa, Analysis of Variance, Oral Squamous Cell Carcinoma, Cell Proliferation, Local Recurrence, lymph node metastasis, Disease Free Survival, and Neoplasm staging
Oral squamous cell carcinoma (OSCC) is commonly preceded by oral potentially malignant lesions (OPML). The aim of the present study was to assess, by bisulfite next-generation sequencing (NGS), the methylation status of a list of... more
Oral squamous cell carcinoma (OSCC) is commonly preceded by oral potentially malignant lesions (OPML). The aim of the present study was to assess, by bisulfite next-generation sequencing (NGS), the methylation status of a list of candidate genes obtained from oral brushings to early detect OPML and OSCC. Oral brushing specimens from 11 OSCC, 11 high-grade squamous intraepithelial lesions (HG-SIL), 9 low-grade SIL (LG-SIL), 9 oral lichen planus (OLP), and 8 healthy donors were included in this study. We investigated, by means of bisulfite NGS, the promoter of GP1BB, ZAP70, KIF1A, p16[CDKN2A], CDH1, miR137, and miR375. Statistical significance between lesions and a pool of healthy donors were evaluated with the Mann-Whitney U test. ZAP70 was found to be hypermethylated in 100% of OSCC and HG-SIL and in 28.6% of LG-SIL. GP1BB hypomethylation was detected in 90.9% OSCC and HG-SIL and in 37.5% of LG-SIL. MiR137 was hypermethylated in 100% of OLP, 44.4% of OSCC, 40% HG-SIL, and 25% LG-SIL. KIF1A hypermethylation was found to be associated with TP53 mutations (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0001). In the present preliminary cohort of patients, DNA methylation analysis of GP1BB and ZAP70 seems to be a promising noninvasive tool for early detection of OSCC and HG SIL from oral brushing specimens.
Research Interests: Dentistry, Humans, Mutation, Female, Male, and 15 moreSquamous Cell Carcinoma, DNA methylation, CpG islands, Oral Lichen Planus, Clinical Sciences, Aged, Middle Aged, microRNAs, Kinesin, Mouth Neoplasms, ORAL AND CRANIO-MAXILLOFACIAL PLASTIC SURGERY, Cohort Studies, Cadherins, Early detection of cancer, and Carcinoma in situ
Male sex is a risk factor for medulloblastoma (MB), and is also a negative predictor for clinical outcome. The aim of this study was to assess sex differences in tumour biological features and hormone receptor profiles in a cohort of MB... more
Male sex is a risk factor for medulloblastoma (MB), and is also a negative predictor for clinical outcome. The aim of this study was to assess sex differences in tumour biological features and hormone receptor profiles in a cohort of MB patients. Sixty-four MBs and five normal cerebella were included in the study. Cell proliferation (Ki67), apoptosis (cleaved caspase-3) and microvessel density (CD31) were evaluated in tumours by immunohistochemistry. Tissues were analysed for oestrogen receptor (ER)α, ERβ1, ERβ2, ERβ5 and androgen receptor (AR) expression. The results demonstrated sex-specific features in MBs, with tumours from females showing a higher apoptosis/proliferation ratio and less tumour vascularization than tumours from males. MBs were negative for ERα and AR, but expressed ERβ isoforms at similar levels between the sexes. Altogether, these findings indicate that signalling mechanisms that control cell turnover and angiogenesis operate more efficiently in females than in males. The lack of sex differences in the hormone receptor profiles suggests that circulating oestrogens could be the major determinants of the sexual dimorphism observed in MB features. Here, we provide molecular support for epidemiological data showing sex differences in MB incidence and outcome, completely defining the hormone receptor profile of the tumours.
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Oral squamous cell carcinoma (OSCC) is the most common oral cancer, and major efforts is being made to identify molecular markers capable to differentiate oral potentially malignant lesions (OPMLs) with indolent course from lesions with... more
Oral squamous cell carcinoma (OSCC) is the most common oral cancer, and major efforts is being made to identify molecular markers capable to differentiate oral potentially malignant lesions (OPMLs) with indolent course from lesions with aggressive behavior. We undertook a study to evaluate if gain of the human telomerase RNA component (hTERC) gene in OPMLs could indicate lesions at high risk of developing OSCC. The study was performed on 30 OPMLs with long-term follow-up using a dual-color interphase fluorescence in situ hybridization (FISH) for hTERC status. Progression to malignancy was observed in 9 of 10 cases harboring hTERC gain and in 1 of 20 cases retaining a normal copy number of hTERC (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .0001). Combining morphological grading and FISH analysis, all the cases with high-grade squamous intraepithelial lesion or carcinoma in situ harboring hTERC amplification progressed to OSCC, whereas none of the low-grade squamous intraepithelial lesions without hTERC gain progressed. Intermediate situations occurred. The data suggest that precise morphological evaluation together with FISH assessment for hTERC gain might pave the way to stratify OPMLs into high-risk and low-risk categories and could be helpful in selecting the most appropriate treatment.
Research Interests: Risk assessment, Humans, Female, Male, Risk factors, and 15 moreClinical Sciences, Aged, Middle Aged, Mouth Neoplasms, Precancerous Conditions, Adult, Disease Progression, Risk Factors, Risk Assessment, Human Pathology, Predictive value of tests, Neoplasm grading, gene amplification, Carcinoma in situ, and Head and neck neoplasms
Low-grade myofibroblastic sarcoma is a malignant tumour from myofibroblasts, which has only recently become clearly defined. It represents a rare entity developing in the soft tissues of the head and neck. About 20 cases have been... more
Low-grade myofibroblastic sarcoma is a malignant tumour from myofibroblasts, which has only recently become clearly defined. It represents a rare entity developing in the soft tissues of the head and neck. About 20 cases have been reported in the oral cavity, especially in the tongue and bone, while gingiva as the primary site has been described only once to date. Diagnostic methods include histology and immunohistochemistry. The present report concerns a case of a 37-year-old man who presented with a persistent gingival ulcerated swelling that was interpreted for a long time as a gingival epulis. A low-grade myofibrosarcoma was diagnosed and the patient underwent a segmental osteotomy of the mandibular symphisys for complete excision. There was no sign of recurrence or metastatic disease during the 18-month postoperative period.
Research Interests: Oncology, Immunohistochemistry, Positron Emission Tomography, Biopsy, Head and Neck, and 14 moreHumans, Osteosarcoma, Male, Gingiva, Gingival Neoplasms, Adult, Case reports, Soft Tissue, Oral Cavity, X ray Computed Tomography, BMJ Case Reports, Postoperative Period, Osteotomy, and Mandibular neoplasms
The development of secondary malignancies is a potential long-term complication after haematopoietic stem cell transplantation (HSCT). In particular, a higher incidence of oral squamous cell carcinoma (OSCC) has been reported in patients... more
The development of secondary malignancies is a potential long-term complication after haematopoietic stem cell transplantation (HSCT). In particular, a higher incidence of oral squamous cell carcinoma (OSCC) has been reported in patients experiencing chronic graft versus host disease (cGvHD) secondary to HSCT. This report describes the development of two synchronous SCC of the buccal mucosa in a young female patient treated with HSCT for beta thalassemia major. She had undergone HSCT at the age of 9 years and developed oral GvHD 6 months after transplant. 17 years after HSCT she developed two synchronous carcinomatous lesions on the tongue and floor of the mouth. The current case highlights the association between oral cGvHD and OSCC, and the possible development of OSCC in young patients even many years after HSCT. This evidence suggests closer follow-up for all patients treated with HSCT who developed cGvHD, and more effective strategies to prevent and treat cGvHD.
Research Interests: Dentistry, Surgery, Cancer, Treatment, Stem Cell, and 15 moreHepatitis C, Humans, Female, Squamous Cell Carcinoma, Follow-up studies, Bone Marrow Transplantation, Mouth Neoplasms, Adult, Multiple, Oral Squamous Cell Carcinoma, Oral Cavity, Beta Thalassemia, Hematopoietic Stem Cell Transplantation, Thalassemia Major, and Tongue neoplasms
: A panel of immunohistochemical markers may be used to differentiate between pagetoid Bowen disease (PBD) and primary extramammary Paget disease (EMPD) in selected cases. Although diffuse staining with cytokeratin 7 (CK7), CAM5.2,... more
: A panel of immunohistochemical markers may be used to differentiate between pagetoid Bowen disease (PBD) and primary extramammary Paget disease (EMPD) in selected cases. Although diffuse staining with cytokeratin 7 (CK7), CAM5.2, carcinoembryonic antigen, epithelial membrane antigen (EMA), and gross cystic disease fluid protein 15 generally supports diagnosis of EMPD, cases have been reported where PBD also expressed CK7, EMA, and CAM5.2. Based on these findings, some authors suggested that the 2 entities may arise from the same multipotent stem cell, capable of further differentiation toward squamous and secretory lines. To the best of our knowledge, this issue has never been investigated by comparing PBD and EMPD at the ultrastructural level. We performed the first ultrastructural study of a case of PBD exhibiting common immunohistochemical features with EMPD. The lesion displayed some ultrastructural features often observed in Bowen disease and some that are typically found in EMPD. These findings indicate the presence of a bidirectional differentiation-secretory and squamous-within the same lesion, thus supporting the hypothesis that PBD and primary EMPD may arise from a common progenitor cell.
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Salivary gland-type neoplasms of the breast are uncommon and comprise numerous entities analogous to that more commonly seen in salivary glands. The clinicopathologic spectrum ranges from benign to malignant but there are important... more
Salivary gland-type neoplasms of the breast are uncommon and comprise numerous entities analogous to that more commonly seen in salivary glands. The clinicopathologic spectrum ranges from benign to malignant but there are important differences as compared with those of their salivary counterpart. In the breast, benign adenomyoepithelioma is recognized in addition to malignant one, whereas in the salivary gland a histologically similar tumor is designated as epithelial-myoepithelial carcinoma without a separate benign subgroup. Mammary adenoid cystic carcinoma is a low-grade neoplasm compared with its salivary equivalent. It is also important to appreciate that in contrast to "triple negative" conventional breast carcinomas with aggressive course, most salivary-type malignant breast neoplasms behave in a low-grade manner. Most of these tumors are capable of differentiating along both epithelial and myoepithelial lines, but the amount of each lineage-component varies from ca...
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Paget&#x27;s disease of bone (PD) is characterized by abnormal resorption of bone by osteoclasts followed by replacement of normal marrow by connective tissue, resulting in distortion and weakening of the affected bones. PD may be... more
Paget&#x27;s disease of bone (PD) is characterized by abnormal resorption of bone by osteoclasts followed by replacement of normal marrow by connective tissue, resulting in distortion and weakening of the affected bones. PD may be complicated by the occurrence of bone ...
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TT virus is a recently discovered virus, of which the pathogenetic potential is still uncertain. The present paper describes the histopathological features of a case of TT virus-related acute recurrent hepatitis. The patient is a... more
TT virus is a recently discovered virus, of which the pathogenetic potential is still uncertain. The present paper describes the histopathological features of a case of TT virus-related acute recurrent hepatitis. The patient is a 28-year-old woman with no history of drug or alcohol abuse, presenting with repeated episodes of hypertransaminasemia evidenced during the last 4 years. No other markers of viral or autoimmune disease were found. On histological analysis, the liver parenchyma showed a preserved architecture. The histological features were those of a mild acute hepatitis. The clinicopathological findings suggest th
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We report a case of a 25-year-old woman affected by the acquired immunodeficiency syndrome in whom the neuropathologic examination disclosed the presence of diffuse axonal swellings in the brain stem and in selected areas of cerebral... more
We report a case of a 25-year-old woman affected by the acquired immunodeficiency syndrome in whom the neuropathologic examination disclosed the presence of diffuse axonal swellings in the brain stem and in selected areas of cerebral hemispheres. These lesions, although microscopically similar to those previously described as focal pontine leukoencephalopathy, differ in that their distribution was wider, there was an absence of associated necrosis of the adjacent nervous tissue, and there was a lack of calcification. It is suggested that axonal swellings represent a nonspecific reaction of the central nervous system to infection by opportunistic agents and/or human immunodeficiency virus in patients with the acquired immunodeficiency syndrome.
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The diagnosis and characterization of rhabdomyosarcoma requires the use of combined histological and immunohistochemical criteria due to the variety of its histological patterns. The identification of actin isoform expression is accepted... more
The diagnosis and characterization of rhabdomyosarcoma requires the use of combined histological and immunohistochemical criteria due to the variety of its histological patterns. The identification of actin isoform expression is accepted as a useful adjunct to the diagnosis and classification of soft tissue tumors. Using a new antibody specific for alpha-cardiac actin, obtained according to a recently described strategy for the production of polyclonal antibodies against actin isoforms [9], we have analyzed a series of 17 rhabdomyosarcomas, including all histological subtypes. In addition, we have evaluated the presence in these tumors of alpha-skeletal and alpha-smooth muscle actins. All specimens examined revealed a positive immunostaining for alpha-cardiac actin. Tumoral cells of eight cases also expressed alpha-smooth muscle actin and only three cases (all embryonal subtypes) were positive for alpha-skeletal actin. Our results indicate that immunohistochemical screening for alph...
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This report describes a rare case of glycogenic acanthosis (GA) located on the tongue of a 72-year-old man. The patient presented with a white plaque that had been on the right side of the tongue for 5 years. Histologically, the lesion... more
This report describes a rare case of glycogenic acanthosis (GA) located on the tongue of a 72-year-old man. The patient presented with a white plaque that had been on the right side of the tongue for 5 years. Histologically, the lesion was characterised by thickened squamous epithelium with abundant intracellular glycogen deposits. No epithelial dysplasia was noted. This is the first report of GA involving the tongue. This benign condition should be added to the large number of lesions responsible for leukoplakia in this anatomical location.
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The pathological workup of breast specimens has dramatically changed in recent years since the increasing use of large (macro) sections (Foschini et al. 2006, 2007; Tot 2003, 2005, 2007a). Large-format histology sections were applied for... more
The pathological workup of breast specimens has dramatically changed in recent years since the increasing use of large (macro) sections (Foschini et al. 2006, 2007; Tot 2003, 2005, 2007a). Large-format histology sections were applied for the first time to human tissue by Cheatle (1921) and by Ingleby and Holly (1939) to visualize the relationship between neoplastic lesions and the surrounding
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Genetic alterations frequently are involved in the development of a pituitary adenoma in young age. We here characterize the functional role of a deletion in CDKN1B... more
Genetic alterations frequently are involved in the development of a pituitary adenoma in young age. We here characterize the functional role of a deletion in CDKN1B 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;-UTR region (c.-29_-26delAGAG) identified in an acromegalic patient that developed a growth hormone in pituitary adenoma during childhood. Our results show that the identified novel heterozygous deletion in the CDKN1B 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;-UTR transcriptional activity in vitro. The patient displayed loss of heterozygosity in the same CDKN1B 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;-UTR region at tissue level and the 5&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;UTR region containing the deleted sequence encompasses a GRE. These findings indicate that the identification of functional alterations of newly discovered genetic derangements need to be fully characterized and always correlated with the clinical manifestations.