Genetics of Pancreatic Neuroendocrine Tumors
Pancreatic neuroendocrine tumors (pNETs) represent a relatively rare disease; however, the incidence has been increasing during the last 2 decades. Next generation sequencing has greatly increased our understanding of driver mutations in pNETs. Sporadic pNETs have consistently presented with mutations in MEN1, DAXX/ATRX, and genes related to the mammalian target of rapamycin pathway. Inherited pNETs have traditionally been associated with multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis complex. The current review expands on the existing knowledge and the rel...
Source: Hematology/Oncology Clinics of North America - September 22, 2022 Category: Cancer & Oncology Authors: Chirayu Mohindroo, Florencia McAllister, Ana De Jesus-Acosta Source Type: research

Medullary thyroid cancer with RET V804M mutation: more indolent than expected?
Significant genotype-phenotype variability among multiple endocrine neoplasia type 2A patients with a RET V804M mutation has been reported. (Source: Surgery)
Source: Surgery - September 20, 2022 Category: Surgery Authors: Nicholas A. Frisco, Alexander H. Gunn, Samantha M. Thomas, Michael T. Stang, Randall P. Scheri, Hadiza S. Kazaure Source Type: research

ASO Visual Abstract: Long-Term Outcomes of Patients with Multiple Endocrine Neoplasia Type 1 and Duodenopancreatic Neuroendocrine Neoplasms
Ann Surg Oncol. 2022 Sep 15. doi: 10.1245/s10434-022-12423-1. Online ahead of print.NO ABSTRACTPMID:36109415 | DOI:10.1245/s10434-022-12423-1 (Source: Ann Oncol)
Source: Ann Oncol - September 15, 2022 Category: Cancer & Oncology Authors: Jason B Liu Jinman Cai Mashaal Dhir Alessandro Paniccia Amer H Zureikat Kimberly M Ramonell Kelly L McCoy Sally E Carty Linwah Yip Source Type: research

Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients
Oncology. 2022 Sep 14. doi: 10.1159/000526775. Online ahead of print.ABSTRACTMalignant thymic carcinoids are uncommon tumours among patients with multiple-endocrine-neoplasia type-1 (MEN-1). Current guidelines advise performance of a preventative, routine transcervical thymectomy (TCT) during parathyroidectomy, although data on the yield is scarce. In this review we aimed to revisit available literature to investigate and summarize the efficacy of routine TCT for the prevention of thymic carcinoid tumours among MEN-1 patients after searching four databases (PubMed, Embase, Medline and Cochrane Library). Summary Seven eligi...
Source: Oncology - September 14, 2022 Category: Cancer & Oncology Authors: Mechteld Christine De Jong Rajeev Parameswaran Source Type: research

Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients
Oncology. 2022 Sep 14. doi: 10.1159/000526775. Online ahead of print.ABSTRACTMalignant thymic carcinoids are uncommon tumours among patients with multiple-endocrine-neoplasia type-1 (MEN-1). Current guidelines advise performance of a preventative, routine transcervical thymectomy (TCT) during parathyroidectomy, although data on the yield is scarce. In this review we aimed to revisit available literature to investigate and summarize the efficacy of routine TCT for the prevention of thymic carcinoid tumours among MEN-1 patients after searching four databases (PubMed, Embase, Medline and Cochrane Library). Summary Seven eligi...
Source: Oncology - September 14, 2022 Category: Cancer & Oncology Authors: Mechteld Christine De Jong Rajeev Parameswaran Source Type: research

Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients
Oncology. 2022 Sep 14. doi: 10.1159/000526775. Online ahead of print.ABSTRACTMalignant thymic carcinoids are uncommon tumours among patients with multiple-endocrine-neoplasia type-1 (MEN-1). Current guidelines advise performance of a preventative, routine transcervical thymectomy (TCT) during parathyroidectomy, although data on the yield is scarce. In this review we aimed to revisit available literature to investigate and summarize the efficacy of routine TCT for the prevention of thymic carcinoid tumours among MEN-1 patients after searching four databases (PubMed, Embase, Medline and Cochrane Library). Summary Seven eligi...
Source: Oncology - September 14, 2022 Category: Cancer & Oncology Authors: Mechteld Christine De Jong Rajeev Parameswaran Source Type: research

Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients
Oncology. 2022 Sep 14. doi: 10.1159/000526775. Online ahead of print.ABSTRACTMalignant thymic carcinoids are uncommon tumours among patients with multiple-endocrine-neoplasia type-1 (MEN-1). Current guidelines advise performance of a preventative, routine transcervical thymectomy (TCT) during parathyroidectomy, although data on the yield is scarce. In this review we aimed to revisit available literature to investigate and summarize the efficacy of routine TCT for the prevention of thymic carcinoid tumours among MEN-1 patients after searching four databases (PubMed, Embase, Medline and Cochrane Library). Summary Seven eligi...
Source: Oncology - September 14, 2022 Category: Cancer & Oncology Authors: Mechteld Christine De Jong Rajeev Parameswaran Source Type: research

Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients
Background: Malignant thymic carcinoids are uncommon tumours among patients with multiple-endocrine-neoplasia type-1 (MEN-1). Current guidelines advise performance of a preventative, routine transcervical thymectomy (TCT) during parathyroidectomy, although data on the yield is scarce. In this review we aimed to revisit available literature to investigate and summarize the efficacy of routine TCT for the prevention of thymic carcinoid tumours among MEN-1 patients after searching four databases (PubMed, Embase, Medline and Cochrane Library). Summary Seven eligible studies were identified: retrospective observational studi...
Source: Oncology - September 14, 2022 Category: Cancer & Oncology Source Type: research

Fracture Risk in Pediatric Patients with MEN2B
CONCLUSION: In this group of patients with MEN2B, there was an increased overall risk of fracture compared to general pediatric cohorts in the United States. Less common sites of fracture were also observed. This suggests a possible impact of an activating RET mutation on bone physiology and warrants further investigation.PMID:36056624 | DOI:10.1210/clinem/dgac500 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - September 3, 2022 Category: Endocrinology Authors: Iris Li Iris R Hartley Joanna Klubo-Gwiedzdzinska James C Reynolds Barbara J Thomas Julie Hogan Mahider M Enyew Eva Dombi Alexander Ling Srivandana Akshintala David J Venzon Jaydira Del Rivero Michael Collins John W Glod Source Type: research

Fracture Risk in Pediatric Patients with MEN2B
CONCLUSION: In this group of patients with MEN2B, there was an increased overall risk of fracture compared to general pediatric cohorts in the United States. Less common sites of fracture were also observed. This suggests a possible impact of an activating RET mutation on bone physiology and warrants further investigation.PMID:36056624 | DOI:10.1210/clinem/dgac500 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - September 3, 2022 Category: Endocrinology Authors: Iris Li Iris R Hartley Joanna Klubo-Gwiedzdzinska James C Reynolds Barbara J Thomas Julie Hogan Mahider M Enyew Eva Dombi Alexander Ling Srivandana Akshintala David J Venzon Jaydira Del Rivero Michael Collins John W Glod Source Type: research

Adrenal pheochromocytoma: Keys to radiologic diagnosis
Radiologia (Engl Ed). 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002.ABSTRACTPheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is th...
Source: Radiologia - August 27, 2022 Category: Radiology Authors: M A Corral de la Calle J Encinas de la Iglesia G C Fern ández-Pérez M Repoll és Cobaleda A Fraino Source Type: research

Adrenal pheochromocytoma: Keys to radiologic diagnosis
Radiologia (Engl Ed). 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002.ABSTRACTPheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is th...
Source: Radiologia - August 27, 2022 Category: Radiology Authors: M A Corral de la Calle J Encinas de la Iglesia G C Fern ández-Pérez M Repoll és Cobaleda A Fraino Source Type: research

Adrenal pheochromocytoma: Keys to radiologic diagnosis
Radiologia (Engl Ed). 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002.ABSTRACTPheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is th...
Source: Radiologia - August 27, 2022 Category: Radiology Authors: M A Corral de la Calle J Encinas de la Iglesia G C Fern ández-Pérez M Repoll és Cobaleda A Fraino Source Type: research

Adrenal pheochromocytoma: Keys to radiologic diagnosis
Radiologia (Engl Ed). 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002.ABSTRACTPheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is th...
Source: Radiologia - August 27, 2022 Category: Radiology Authors: M A Corral de la Calle J Encinas de la Iglesia G C Fern ández-Pérez M Repoll és Cobaleda A Fraino Source Type: research

Adrenal pheochromocytoma: Keys to radiologic diagnosis
Radiologia (Engl Ed). 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002.ABSTRACTPheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is th...
Source: Radiologia - August 27, 2022 Category: Radiology Authors: M A Corral de la Calle J Encinas de la Iglesia G C Fern ández-Pérez M Repoll és Cobaleda A Fraino Source Type: research