Medical Imaging 2001: Visualization, Display, and Image-Guided Procedures, 2001
ABSTRACT Purpose: Phantom trials using the PET data for localization of hot spots have demonstrat... more ABSTRACT Purpose: Phantom trials using the PET data for localization of hot spots have demonstrated positional accuracies in the millimeter range. We wanted to perform biopsy based on information from both anatomic and functional imaging modalities, however we had a communication challenge. Despite the digital nature of DSM stereotactic X-ray mammography devices, and the large number of such devices in Radiology Departments (approximately 1600 in the US alone), we are not aware of any methods of connecting stereo units to other computers in the Radiology department. Methods: We implemented a local network between an external IBM PC (running Linux) and the Lorad Stereotactic Digital Spot Mammography PC (running DOS). The application used IP protocol on the parallel port, and could be run in the background on the LORAD PC without disrupting important clinical activities such as image acquisition or archiving. With this software application, users of the external PC could pull x-ray images on demand form the Load DSM computer. Results: X-ray images took about a minute to ship to the external PC for analysis or forwarding to other computers on the University's network. Using image fusion techniques we were able to designate locations of functional imaging features as the additional targets on the anatomic x-rays. These pseudo-features could then potentially be used to guide biopsy using the stereotactic gun stage on the Lorad camera. New Work to be Presented: A method of transferring and processing stereotactic x-ray mammography images to a functional PET workstation for implementing image-guided biopsy.
Parathyroid carcinoma is a rare disease. Conflicting results on prognostic factors and extent of ... more Parathyroid carcinoma is a rare disease. Conflicting results on prognostic factors and extent of surgical resection for patients with parathyroid carcinoma have been made based on small sample sizes. A large, robust dataset is needed to help address some of the controversies. A retrospective review of patients with parathyroid carcinoma in the National Cancer Data Base from 1985 to 2006 was performed. Characteristics of the cohort and type of treatment were evaluated. Prognostic factors were assessed with Cox proportional hazards regression models and 5- and 10-year OS rates were determined. There were 733 evaluable patients with a mean age of 56.1 ± 15.3 years (median 57, range 15-89) and mean tumor size of 29.6 ± 18.4 mm (median 25.0 mm, range 10.0-150.0). Tumor size, age at diagnosis, male sex, positive nodal status, and complete tumor resection had hazard ratios for death of 1.02 (1.01-1.02, p < 0.0001), 1.06 (1.05-1.07, p < 0.0001), 1.67 (1.24-2.25, p = 0.0008), 1.25 (0.5...
2004 2nd IEEE International Symposium on Biomedical Imaging: Macro to Nano (IEEE Cat No. 04EX821), 2004
Operation of a high resolution compact clinical PET Scanner (PEM Flex™) device as a breast scanne... more Operation of a high resolution compact clinical PET Scanner (PEM Flex™) device as a breast scanner is described. The device features high spatial resolution (1.5 mm FWHM intrinsic resolution) as a result of small crystals and compact position-sensitive photomultipliers. The compactness of the system allows it to reside within a stereotactic X-ray mammography unit, or as a separate standalone system
Age-related risk of medullary thyroid carcinoma (MTC) development in presymptomatic carriers of l... more Age-related risk of medullary thyroid carcinoma (MTC) development in presymptomatic carriers of lower risk germline RET mutations is uncertain; such data may aid counseling patients regarding timing of thyroidectomy. From an institutional database and an exhaustive literature review, we identified 679 patients with American Thyroid Association (ATA) level A or B mutations who were identified because of family screening (index cases of MTC were excluded to minimize selection bias). We evaluated age at thyroidectomy or last evaluation if no thyroidectomy, preoperative calcitonin level (elevated or not), the mutated codon, and outcome (MTC vs. no MTC after thyroidectomy or no clinical evidence of MTC if thyroid intact). Data were used to estimate the cumulative prevalence of MTC and/or assess likelihood of MTC stratified by codon. After exclusion of cases with missing data or small representation, 503 patients with mutations in codons 533, 609, 611, 618, 620, 791, and 804 were analyzed. 236 patients had MTC. Cumulative prevalence and median time to MTC varied by codon and within ATA risk levels (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;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). Patients with a codon 620 mutation were 2.8-6.9 times more likely to have MTC than other level B mutation carriers, and 5.1-21.7 times more likely than level A mutation carriers included in our focus population. The youngest median time to MTC was 19 years for codon 620 and the oldest was 56 years for codon 611. Cumulative prevalence of MTC by age 20 was 10% or lower for codons 533, 609, 611, 791, and 804. By age 50, it ranged from 18% for codon 791 to 95% for codon 620. An elevated preoperative calcitonin level strongly predicted MTC on final pathology, though false-negative rates varied by codon (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;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). Positive predictive values ranged from 76% to 100% by codon with an overall positive predictive value of 87% across codons. This study offers a better understanding of the age-related development of MTC in lower risk RET mutation carriers, provides evidence of further distinctions between lower risk mutations within ATA subgroups, and clarifies the clinical significance of codon 791 mutations. The data support individualized &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;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;quot;codon-based&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;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;quot; management approaches coupled with clinical data such as calcitonin levels.
Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are... more Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are rare but important endocrine diseases that are increasingly managed by pediatric providers. MTC is generally associated with a favorable prognosis when diagnosed during childhood, where it frequently occurs secondary to activating mutations in the RET proto-oncogene and arises from pre-existing C-cell hyperplasia. MEN2A accounts for 90-95% of childhood MTC cases and is most commonly due to mutations in codon 634 of RET. MEN2B is associated with the most aggressive clinical presentation of MTC and is almost always due to the Met918Thr mutation of RET. Surgery is the primary treatment and only chance of cure, although the advent of targeted therapies seems to be improving progression-free survival in advanced cases. Since the discovery of the role of RET in MEN2A, considerable advances in the management of this syndrome have occurred, and most of the children with MEN2A who have undergone early thyroidectomy will now lead full, productive lives. Strong genotype-phenotype correlations have facilitated the development of guidelines for interventions. Contemporary approaches for deciding the appropriate age at which surgery should take place incorporate data from ultrasonography and calcitonin measurements in addition to the results of genotyping. To optimize care and to facilitate ongoing research, children with MTC and the MEN2 syndromes are optimally treated at tertiary centers with multidisciplinary expertise.
25 Adrenal Imaging Elizabeth G. Grubbs, Rodolfo F. Nunez, Revathy B. Iyer and Nancy D. Perrier I... more 25 Adrenal Imaging Elizabeth G. Grubbs, Rodolfo F. Nunez, Revathy B. Iyer and Nancy D. Perrier Introduction ... Adrenal imaging now has a role in determining the nat-ure functioning or nonfunctioning, benign or malignant of these incidentally discovered adrenal lesions. ...
While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic... more While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic resection of adrenal tumors that may be adrenal cortical carcinoma (ACC) remains controversial. The records of all patients with ACC evaluated at a single institution from 1991 through 2004 were reviewed retrospectively. Among 170 patients with ACC, 153 patients underwent open anterior adrenalectomy, 6 underwent laparoscopic adrenalectomy, 1 was treated via an open flank approach, and 10 had no operation. At a median follow-up of 28 months, 115 (86%) of 133 patients who had undergone open anterior resection of primary ACC had had a recurrence. Local recurrence and peritoneal carcinomatosis were components of initial failure in 46 (35%) and 11 patients (8%), respectively. In contrast, all 6 patients who underwent laparoscopic resection of ACC had recurrences, and peritoneal carcinomatosis was a component of initial failure in 5 (83%) of them (open vs laparoscopic resection, Fisher exact test P = .0001). Laparoscopic resection of ACC is associated with a high risk of peritoneal carcinomatosis. Open adrenalectomy remains the standard of care for patients presenting with an adrenal cortical tumor for which ACC is in the differential diagnosis.
While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic... more While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic resection of adrenal tumors that may be adrenal cortical carcinoma (ACC) remains controversial. The records of all patients with ACC evaluated at a single institution from 1991 through 2004 were reviewed retrospectively. Among 170 patients with ACC, 153 patients underwent open anterior adrenalectomy, 6 underwent laparoscopic adrenalectomy, 1 was treated via an open flank approach, and 10 had no operation. At a median follow-up of 28 months, 115 (86%) of 133 patients who had undergone open anterior resection of primary ACC had had a recurrence. Local recurrence and peritoneal carcinomatosis were components of initial failure in 46 (35%) and 11 patients (8%), respectively. In contrast, all 6 patients who underwent laparoscopic resection of ACC had recurrences, and peritoneal carcinomatosis was a component of initial failure in 5 (83%) of them (open vs laparoscopic resection, Fisher exact test P = .0001). Laparoscopic resection of ACC is associated with a high risk of peritoneal carcinomatosis. Open adrenalectomy remains the standard of care for patients presenting with an adrenal cortical tumor for which ACC is in the differential diagnosis.
A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The... more A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. He had no family history of carotid body tumors or pheochromocytoma. Measurements of plasma free metanephrines and chromogranin A; radiographic evaluations with CT, (18)F-fluorodeoxyglucose PET and (123)I-labeled metaiodobenzylguanidine scan; gene analysis for mutations in the SDHD and the KIT gene. Paraganglioma syndrome type 1 in a patient with a paraganglioma, bilateral pheochromocytomas and a gastrointestinal stromal tumor with a somatic Asp579del KIT mutation. The patient underwent surgical excision of all tumors after adequate preparation with alpha and beta blockers. Blood pressure normalized after surgery. The patient is examined regularly with biochemical and radiographic studies, and his follow-up is expected to last throughout life.
Whole-exome sequencing studies have not established definitive somatic mutation patterns among pa... more Whole-exome sequencing studies have not established definitive somatic mutation patterns among patients with sporadic hyperparathyroidism (HPT). No sequencing has evaluated multiple endocrine neoplasia type 1 (MEN1)-related HPT. We sought to perform whole-exome sequencing in HPT patients to identify somatic mutations and associated biological pathways and tumorigenic networks. Whole-exome sequencing was performed on blood and tissue from HPT patients (MEN1 and sporadic) and somatic single nucleotide variants (SNVs) were identified. Stop-gain and stop-loss SNVs were analyzed with Ingenuity Pathways Analysis (IPA). Loss of heterozygosity (LOH) was also assessed. Sequencing was performed on 4 MEN1 and 10 sporadic cases. Eighteen stop-gain/stop-loss SNV mutations were identified in 3 MEN1 patients. One complex network was identified on IPA: Cellular function and maintenance, tumor morphology, and cardiovascular disease (IPA score = 49). A nonsynonymous SNV of TP53 (lysine-to-glutamic acid change at codon 81) identified in a MEN1 patient was suggested to be a driver mutation (Cancer-specific High-throughput Annotation of Somatic Mutations; P = .002). All MEN1 and 3/10 sporadic specimens demonstrated LOH of chromosome 11. Whole-exome sequencing revealed somatic mutations in MEN1 associated with a single tumorigenic network, whereas sporadic pathogenesis seemed to be more diverse. A somatic TP53 mutation was also identified. LOH of chromosome 11 was seen in all MEN1 and 3 of 10 sporadic patients.
Medical Imaging 2001: Visualization, Display, and Image-Guided Procedures, 2001
ABSTRACT Purpose: Phantom trials using the PET data for localization of hot spots have demonstrat... more ABSTRACT Purpose: Phantom trials using the PET data for localization of hot spots have demonstrated positional accuracies in the millimeter range. We wanted to perform biopsy based on information from both anatomic and functional imaging modalities, however we had a communication challenge. Despite the digital nature of DSM stereotactic X-ray mammography devices, and the large number of such devices in Radiology Departments (approximately 1600 in the US alone), we are not aware of any methods of connecting stereo units to other computers in the Radiology department. Methods: We implemented a local network between an external IBM PC (running Linux) and the Lorad Stereotactic Digital Spot Mammography PC (running DOS). The application used IP protocol on the parallel port, and could be run in the background on the LORAD PC without disrupting important clinical activities such as image acquisition or archiving. With this software application, users of the external PC could pull x-ray images on demand form the Load DSM computer. Results: X-ray images took about a minute to ship to the external PC for analysis or forwarding to other computers on the University&#39;s network. Using image fusion techniques we were able to designate locations of functional imaging features as the additional targets on the anatomic x-rays. These pseudo-features could then potentially be used to guide biopsy using the stereotactic gun stage on the Lorad camera. New Work to be Presented: A method of transferring and processing stereotactic x-ray mammography images to a functional PET workstation for implementing image-guided biopsy.
Parathyroid carcinoma is a rare disease. Conflicting results on prognostic factors and extent of ... more Parathyroid carcinoma is a rare disease. Conflicting results on prognostic factors and extent of surgical resection for patients with parathyroid carcinoma have been made based on small sample sizes. A large, robust dataset is needed to help address some of the controversies. A retrospective review of patients with parathyroid carcinoma in the National Cancer Data Base from 1985 to 2006 was performed. Characteristics of the cohort and type of treatment were evaluated. Prognostic factors were assessed with Cox proportional hazards regression models and 5- and 10-year OS rates were determined. There were 733 evaluable patients with a mean age of 56.1 ± 15.3 years (median 57, range 15-89) and mean tumor size of 29.6 ± 18.4 mm (median 25.0 mm, range 10.0-150.0). Tumor size, age at diagnosis, male sex, positive nodal status, and complete tumor resection had hazard ratios for death of 1.02 (1.01-1.02, p < 0.0001), 1.06 (1.05-1.07, p < 0.0001), 1.67 (1.24-2.25, p = 0.0008), 1.25 (0.5...
2004 2nd IEEE International Symposium on Biomedical Imaging: Macro to Nano (IEEE Cat No. 04EX821), 2004
Operation of a high resolution compact clinical PET Scanner (PEM Flex™) device as a breast scanne... more Operation of a high resolution compact clinical PET Scanner (PEM Flex™) device as a breast scanner is described. The device features high spatial resolution (1.5 mm FWHM intrinsic resolution) as a result of small crystals and compact position-sensitive photomultipliers. The compactness of the system allows it to reside within a stereotactic X-ray mammography unit, or as a separate standalone system
Age-related risk of medullary thyroid carcinoma (MTC) development in presymptomatic carriers of l... more Age-related risk of medullary thyroid carcinoma (MTC) development in presymptomatic carriers of lower risk germline RET mutations is uncertain; such data may aid counseling patients regarding timing of thyroidectomy. From an institutional database and an exhaustive literature review, we identified 679 patients with American Thyroid Association (ATA) level A or B mutations who were identified because of family screening (index cases of MTC were excluded to minimize selection bias). We evaluated age at thyroidectomy or last evaluation if no thyroidectomy, preoperative calcitonin level (elevated or not), the mutated codon, and outcome (MTC vs. no MTC after thyroidectomy or no clinical evidence of MTC if thyroid intact). Data were used to estimate the cumulative prevalence of MTC and/or assess likelihood of MTC stratified by codon. After exclusion of cases with missing data or small representation, 503 patients with mutations in codons 533, 609, 611, 618, 620, 791, and 804 were analyzed. 236 patients had MTC. Cumulative prevalence and median time to MTC varied by codon and within ATA risk levels (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;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). Patients with a codon 620 mutation were 2.8-6.9 times more likely to have MTC than other level B mutation carriers, and 5.1-21.7 times more likely than level A mutation carriers included in our focus population. The youngest median time to MTC was 19 years for codon 620 and the oldest was 56 years for codon 611. Cumulative prevalence of MTC by age 20 was 10% or lower for codons 533, 609, 611, 791, and 804. By age 50, it ranged from 18% for codon 791 to 95% for codon 620. An elevated preoperative calcitonin level strongly predicted MTC on final pathology, though false-negative rates varied by codon (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;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). Positive predictive values ranged from 76% to 100% by codon with an overall positive predictive value of 87% across codons. This study offers a better understanding of the age-related development of MTC in lower risk RET mutation carriers, provides evidence of further distinctions between lower risk mutations within ATA subgroups, and clarifies the clinical significance of codon 791 mutations. The data support individualized &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;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;quot;codon-based&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;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;quot; management approaches coupled with clinical data such as calcitonin levels.
Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are... more Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are rare but important endocrine diseases that are increasingly managed by pediatric providers. MTC is generally associated with a favorable prognosis when diagnosed during childhood, where it frequently occurs secondary to activating mutations in the RET proto-oncogene and arises from pre-existing C-cell hyperplasia. MEN2A accounts for 90-95% of childhood MTC cases and is most commonly due to mutations in codon 634 of RET. MEN2B is associated with the most aggressive clinical presentation of MTC and is almost always due to the Met918Thr mutation of RET. Surgery is the primary treatment and only chance of cure, although the advent of targeted therapies seems to be improving progression-free survival in advanced cases. Since the discovery of the role of RET in MEN2A, considerable advances in the management of this syndrome have occurred, and most of the children with MEN2A who have undergone early thyroidectomy will now lead full, productive lives. Strong genotype-phenotype correlations have facilitated the development of guidelines for interventions. Contemporary approaches for deciding the appropriate age at which surgery should take place incorporate data from ultrasonography and calcitonin measurements in addition to the results of genotyping. To optimize care and to facilitate ongoing research, children with MTC and the MEN2 syndromes are optimally treated at tertiary centers with multidisciplinary expertise.
25 Adrenal Imaging Elizabeth G. Grubbs, Rodolfo F. Nunez, Revathy B. Iyer and Nancy D. Perrier I... more 25 Adrenal Imaging Elizabeth G. Grubbs, Rodolfo F. Nunez, Revathy B. Iyer and Nancy D. Perrier Introduction ... Adrenal imaging now has a role in determining the nat-ure functioning or nonfunctioning, benign or malignant of these incidentally discovered adrenal lesions. ...
While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic... more While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic resection of adrenal tumors that may be adrenal cortical carcinoma (ACC) remains controversial. The records of all patients with ACC evaluated at a single institution from 1991 through 2004 were reviewed retrospectively. Among 170 patients with ACC, 153 patients underwent open anterior adrenalectomy, 6 underwent laparoscopic adrenalectomy, 1 was treated via an open flank approach, and 10 had no operation. At a median follow-up of 28 months, 115 (86%) of 133 patients who had undergone open anterior resection of primary ACC had had a recurrence. Local recurrence and peritoneal carcinomatosis were components of initial failure in 46 (35%) and 11 patients (8%), respectively. In contrast, all 6 patients who underwent laparoscopic resection of ACC had recurrences, and peritoneal carcinomatosis was a component of initial failure in 5 (83%) of them (open vs laparoscopic resection, Fisher exact test P = .0001). Laparoscopic resection of ACC is associated with a high risk of peritoneal carcinomatosis. Open adrenalectomy remains the standard of care for patients presenting with an adrenal cortical tumor for which ACC is in the differential diagnosis.
While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic... more While laparoscopic removal of small, benign, functioning adrenal tumors is accepted, laparoscopic resection of adrenal tumors that may be adrenal cortical carcinoma (ACC) remains controversial. The records of all patients with ACC evaluated at a single institution from 1991 through 2004 were reviewed retrospectively. Among 170 patients with ACC, 153 patients underwent open anterior adrenalectomy, 6 underwent laparoscopic adrenalectomy, 1 was treated via an open flank approach, and 10 had no operation. At a median follow-up of 28 months, 115 (86%) of 133 patients who had undergone open anterior resection of primary ACC had had a recurrence. Local recurrence and peritoneal carcinomatosis were components of initial failure in 46 (35%) and 11 patients (8%), respectively. In contrast, all 6 patients who underwent laparoscopic resection of ACC had recurrences, and peritoneal carcinomatosis was a component of initial failure in 5 (83%) of them (open vs laparoscopic resection, Fisher exact test P = .0001). Laparoscopic resection of ACC is associated with a high risk of peritoneal carcinomatosis. Open adrenalectomy remains the standard of care for patients presenting with an adrenal cortical tumor for which ACC is in the differential diagnosis.
A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The... more A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. He had no family history of carotid body tumors or pheochromocytoma. Measurements of plasma free metanephrines and chromogranin A; radiographic evaluations with CT, (18)F-fluorodeoxyglucose PET and (123)I-labeled metaiodobenzylguanidine scan; gene analysis for mutations in the SDHD and the KIT gene. Paraganglioma syndrome type 1 in a patient with a paraganglioma, bilateral pheochromocytomas and a gastrointestinal stromal tumor with a somatic Asp579del KIT mutation. The patient underwent surgical excision of all tumors after adequate preparation with alpha and beta blockers. Blood pressure normalized after surgery. The patient is examined regularly with biochemical and radiographic studies, and his follow-up is expected to last throughout life.
Whole-exome sequencing studies have not established definitive somatic mutation patterns among pa... more Whole-exome sequencing studies have not established definitive somatic mutation patterns among patients with sporadic hyperparathyroidism (HPT). No sequencing has evaluated multiple endocrine neoplasia type 1 (MEN1)-related HPT. We sought to perform whole-exome sequencing in HPT patients to identify somatic mutations and associated biological pathways and tumorigenic networks. Whole-exome sequencing was performed on blood and tissue from HPT patients (MEN1 and sporadic) and somatic single nucleotide variants (SNVs) were identified. Stop-gain and stop-loss SNVs were analyzed with Ingenuity Pathways Analysis (IPA). Loss of heterozygosity (LOH) was also assessed. Sequencing was performed on 4 MEN1 and 10 sporadic cases. Eighteen stop-gain/stop-loss SNV mutations were identified in 3 MEN1 patients. One complex network was identified on IPA: Cellular function and maintenance, tumor morphology, and cardiovascular disease (IPA score = 49). A nonsynonymous SNV of TP53 (lysine-to-glutamic acid change at codon 81) identified in a MEN1 patient was suggested to be a driver mutation (Cancer-specific High-throughput Annotation of Somatic Mutations; P = .002). All MEN1 and 3/10 sporadic specimens demonstrated LOH of chromosome 11. Whole-exome sequencing revealed somatic mutations in MEN1 associated with a single tumorigenic network, whereas sporadic pathogenesis seemed to be more diverse. A somatic TP53 mutation was also identified. LOH of chromosome 11 was seen in all MEN1 and 3 of 10 sporadic patients.
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