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(Sipple syndrome)
1,781 results
  • Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma. [Journal Article]
    Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3)Crawford KA, Berlow NE, … Keller C
  • In this case report we evaluate the genetics of and scientific basis of therapeutic options for a 14-yr-old male patient diagnosed with metastatic PAX3-FOXO1 fusion positive alveolar rhabdomyosarcoma. A distinguishing genetic feature of this patient was a germline RET C634F mutation, which is a known driver of multiple endocrine neoplasia type 2A (MEN2A) cancer. Through sequential DNA and RNA seq…
  • Early thyroidectomy in multiple endocrine neoplasia: a four decade experience. [Review]
    Endocr Relat Cancer. 2020 May 01 [Online ahead of print]Grubbs EG, Lechan RM, … Gagel RF
  • Forty years ago, physicians caring for the J-kindred, a 100+ member family with multiple endocrine neoplasia type 2A (MEN2A), hypothesized that early thyroidectomy based on measurement of the biomarker calcitonin could cure patients at risk for development of medullary thyroid carcinoma (MTC). We re-evaluated 22 family members with proven RET proto-oncogene mutations (C634G) who underwent thyroid…
  • Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients. [Case Reports]
    Front Endocrinol (Lausanne). 2020; 11:251.Mathiesen JS, Nielsen SG, … Rossing M
  • CONCLUSIONS: We could not confirm the previously reported finding of a somatic RET variant as likely responsible for the early onset and aggressiveness of MTC in a RET germline mutation carrier. Also, we found no RET germline variants that could explain the MTC variability among our index patients. We did, however, identify a somatic FLT3 R387Q variant with an unknown potential as genetic modifier. Further large-scale studies are needed to investigate genetic modifiers in RET L790F carriers.
  • Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study. [Journal Article]
    Endocr Connect. 2020 Jun; 9(6):489-497.Larsen LV, Mirebeau-Prunier D, … Mathiesen JS
  • CONCLUSIONS: Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.
  • Update on the Treatment of Medullary Thyroid Carcinoma in Patients with Multiple Endocrine Neoplasia Type 2. [Journal Article]
    Horm Metab Res. 2020 Apr 16 [Online ahead of print]Ilanchezhian M, Khan S, … Del Rivero J
  • Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine cancer that accounts for 1-2% of thyroid cancers in the United States (U.S.). While most cases are sporadic, 25% of MTC cases are hereditary. These hereditary cases occur in the setting of Multiple Endocrine Neoplasia Type 2A (MEN2A) or 2B (MEN2B) driven by mutations in the Rearranged during Transfection RET proto-oncogene. This article d…
  • Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations. [Case Reports]
    J Endocr Soc. 2020 Apr 01; 4(4):bvaa020.Brown SJ, Riconda DL, … Robbins RJ
  • The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel MEN1 loss-of-function mutation, c0.525_5…
  • [Multiple endocrine neoplasia type 2A in a family]. [Journal Article]
    Orv Hetil. 2020 Jan; 161(2):75-79.Hircsu I, Gazdag A, … Erdei A
  • The authors present the case of a multiplex endocrine neoplasia type 2A (MEN2A). The 55-year-old woman underwent detailed examinations for abdominal complaints. Bilateral adrenal masses and thyroid nodular goiter were found. Based on metanephrine excretion and MIBG imaging, bilateral phaeochromocytomas were diagnosed. The thyroid nodules were confirmed by thyroidectomy as bilateral medullary thyr…
  • A primer on the genetics of medullary thyroid cancer. [Review]
    Curr Oncol. 2019 12; 26(6):389-394.Larouche V, Akirov A, … Ezzat S
  • Medullary thyroid cancer is a rare type of neuroendocrine tumour that arises from the parafollicular cells (C cells) of the thyroid gland. It accounts for 3%-5% of thyroid cancer cases. Close to 25% of cases are familial, and 75% are considered sporadic. Familial cases are associated with a germline RET mutation; 43%-65% of sporadic cases harbour a somatic event in the gene. Germline RET mutation…
  • StatPearls: Paraganglioma [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Ikram Asad A University of New Mexico Rehman Anis A Southern Illinois University BOOK
  • Paragangliomas are rare, catecholamine (norepinephrine) secreting neuroendocrine tumors commonly located in pre-aortic and paravertebral sympathetic plexus or skull base. Head-and-neck paragangliomas in the jugular foramen, ear, or carotid body are less differentiated tumors. They secrete norepinephrine as compared to more differentiated intraabdominal adrenal medulla tumors like neuroblastoma an…
  • Pheochromocytoma arising from an ectopic adrenal tissue in multiple endocrine neoplasia type 2A. [Journal Article]
    Endocrinol Diabetes Metab Case Rep. 2019 Oct 12; 2019Ohsugi H, Takizawa N, … Matsuda T
  • A 21-year-old woman was referred to our hospital to treat bilateral pheochromocytomas (PCCs) after a diagnosis of multiple endocrine neoplasia type 2A (MEN2A). We performed bilateral laparoscopic adrenalectomy. One year after the operation, urinary fractionated metanephrines in 24-h urine increased. MRI showed a 30 mm tumor on the interaortocaval region and 123I-MIBG concentrated in this area. We…
  • GeneReviews®: Multiple Endocrine Neoplasia Type 2 [BOOK]
    . University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AEng CBOOK
  • Multiple endocrine neoplasia type 2 (MEN 2) includes the following phenotypes: MEN 2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN 2A), and MEN 2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B involve an increased risk for pheochromocytoma; MEN 2A involves an increased risk for parathyroid adeno…
  • Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder? [Review]
    Curr Cardiol Rep. 2019 07 31; 21(9):104.Fishbein L
  • Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review…
  • RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma. [Journal Article]
    Thyroid. 2019 10; 29(10):1447-1456.Qi XP, Jin BY, … Zhao JQ
  • CONCLUSIONS: This study demonstrates that the novel germline RET S409Y variant is likely pathogenic and is associated with lower penetrance of MTC than that for the C618Y and C634Y mutations. Individuals with S409Y should be managed using a personalized approach, and additionally, "at-risk" family members should be evaluated. Additional studies are needed to elucidate the correlation between the S409Y mutation and multiple endocrine neoplasia type 2-specific tumors.
  • Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience. [Clinical Trial]
    J Pediatr Endocrinol Metab. 2019 Aug 27; 32(8):889-893.Garcés Visier C, Espinoza Vega M, … Alonso Calderón JL
  • Background To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American Thyroid Association (ATA). Methods A retrospective study of 14 patients with MEN 2A thyroidectomized between 2000 and 2017. We reviewed demographic, clinical, an…
  • Surgical Management of Multiple Endocrine Neoplasia 1 and Multiple Endocrine Neoplasia 2. [Review]
    Surg Clin North Am. 2019 Aug; 99(4):693-709.Kiernan CM, Grubbs EG
  • This article summarizes the surgical management of tumors associated with multiple endocrine neoplasia 1 (MEN1) and multiple endocrine neoplasia 2 (MEN2) and includes discussion of the preoperative planning, the goals, and extent of surgery, as well as the intraoperative considerations and the management of recurrent disease.
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