scholarly journals MON-906 MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A: Familiar Case Report

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Barbara K P Sousa ◽  
Camila R Calasans ◽  
Deborah F Scardua ◽  
Potira A G Azevedo ◽  
Gustavo P Ricardo ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Thyroid Nodule ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Mibg Scintigraphy ◽  
Endocrine Neoplasia ◽  
Bilateral Pheochromocytoma ◽  
Endocrine Neoplasia Type ◽  
Plasma Metanephrines ◽  
Men 2A

Abstract Introduction: Multiple endocrine neoplasia type 2A (MEN 2A) is a autosomal dominant transmission inherited syndrome which oncogenesis is based on germline mutations with RET proto-oncogene function gain. Patients have medullary thyroid carcinoma (CMT) and some develop unilateral or bilateral pheochromocytoma and/or primary hyperparathyroidism, its frequency depends on the inherited RET mutation. We present a case of a mother and daughter with marfanoid habitus and MEN 2A syndrome confirmed by genetic analysis that identified mutation in the RET gene, codon 634.Clinical cases: 35-year-old woman with weight loss, sweating, nausea, hypertensive peaks, syncope episodes and marfanoid habitus, with plasma metanephrines 9.1nmol/L (RV<0.5), bilateral adrenal tumors on MRI (4.7x4.5x3.3 cm left adrenal and 7.4x7.3x6.3 cm) and MIBG scintigraphy high uptake bilateral, with diagnosis of bilateral pheochromocytoma. She also had calcitonin 49.40pg/mL (RV<6.4), calcium 11.9mg/dL (RV 8.6-10.2), PTH 372.7pg/mL (RV15-65) and cervical ultrasound (USG) with solid and hypoechogenic thyroid nodule, diagnosed with CMT and primary hyperparathyroidism with 6 possible parathyroid glands by SPECT CT scintigraphy. Genetic panel by NGS identify germline mutation in RET códon 634 - minsense mutation: c.1900T>C. The patient denied prior family history. In the familiar screening, her 18-year-old daughter has a marfanoid habitus, serum calcitonin 48.8pg /mL (RV<9.8), CEA 3.8ng/mL(RV<3.0), cervical USG shows a thyroid nodule of 0.7x0.5x0.5cm, solid, hypoechoic, with microcalcifications and a central compartiment lymph node, whose puncture calcitonin > 2000pg/mL and 118pg/mL, respectively. She features plasma metanephrines 0.5mmol/L (RV<0.5), normal plasma normetanephrines, MIBG scintigraphy and adrenal MRI without alterations and absence of primary hyperparathyroidism. She has the same mutation as her mother.Conclusion: Although rare, it is essential to know the clinical and laboratory changes in MEN 2A in order to enable early diagnosis and treatment. Also, investigate every first-degree relative is important so complications and mortality of this syndrome can be reduced.

scholarly journals Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

2020 ◽  
Vol 9 (6) ◽  
pp. 489-497 ◽  
Author(s):  
Louise Vølund Larsen ◽  
Delphine Mirebeau-Prunier ◽  
Tsuneo Imai ◽  
Cristina Alvarez-Escola ◽  
Kornelia Hasse-Lazar ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multicenter Study ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Parathyroid Surgery ◽  
Node Positive ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Index Cases ◽  
Men 2A

Objective Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases. Design and methods An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017. Results Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4–1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis. 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.

scholarly journals Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
María Posada-González ◽  
Joaquín Gómez-Ramírez ◽  
Manuel Luque-Ramírez ◽  
Mercedes Guijarro ◽  
Elena Martín-Pérez ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Rare Malignancy ◽  
Men 2A

Parathyroid carcinoma is a very rare malignancy. It has been associated with hyperparathyroidism-jaw tumour syndrome, familial isolated primary hyperparathyroidism, and multiple endocrine neoplasia type 1 (MEN-1) and 2A (MEN-2A) syndromes. We report a 54-year-old man with a MEN-2A which presents with a nonfunctional metastatic parathyroid carcinoma and a pheochromocytoma in the absence of medullary thyroid carcinoma. Only a few cases of parathyroid carcinoma have been reported in the literature associated with this syndrome.

Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure

2015 ◽  
Vol 23 (2) ◽  
pp. 416-423 ◽  
Author(s):  
Naris Nilubol ◽  
Lee S. Weinstein ◽  
William F. Simonds ◽  
Robert T. Jensen ◽  
Stephen J. Marx ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634)

2014 ◽  
Vol 142 (1-2) ◽  
pp. 72-74 ◽  
Author(s):  
Maja Jesic ◽  
Milina Tancic-Gajic ◽  
Milos Jesic ◽  
Vladan Zivaljevic ◽  
Silvija Sajic ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Prophylactic Thyroidectomy ◽  
Urinary Catecholamines ◽  
Serum Calcitonin ◽  
Long Term Outcome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Men 2A

Introduction. The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. Case Outline. This is a case report of 3-year-old boy from the MEN 2A family (the boy?s father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is <2 pg/ml (normal <13 pg/ml), has normal serum calcium and parathyroid hormone levels and negative urinary catecholamines. Long-term follow-up of this patient is required to determine whether very early thyroidectomy improves the long-term outcome of PHPT. Conclusion. Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.

scholarly journals Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

2019 ◽  
Vol 104 (9) ◽  
pp. 3637-3646 ◽  
Author(s):  
Anja Frederiksen ◽  
Maria Rossing ◽  
Pernille Hermann ◽  
Charlotte Ejersted ◽  
Rajesh V Thakker ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Current Knowledge ◽  
Pituitary Tumors ◽  
Pathogenic Variant ◽  
Endocrine Tumors ◽  
Disease Manifestation ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Context The clinical phenotype of multiple endocrine neoplasia type 4 (MEN4) is undefined due to a limited number of published cases. Knowledge on disease manifestation in MEN4 is essential for developing prevention programs and treatment. Objective To expand current knowledge of the MEN4 phenotype including assessment of penetrance. Design This is a case report and a brief review of previously published MEN4 cases. Patients We report a large Danish family with multiple cases of endocrine tumors that segregated with a pathogenic variant in the CDKN1B gene. Main Outcome/Result The medical history of the proband included primary hyperparathyroidism and Cushing disease. Genetic analysis identified a pathogenic variant in CDKN1B (c.121_122delTT, p.Leu41Asnfs*83). Among the family members, another 12 individuals were identified as carriers of the same variant, which segregated with development of endocrine tumors. Hypercalcemia due to primary hyperparathyroidism occurred in all 13 of the available carriers of the genetic variant, and 4 patients also had functioning or nonfunctioning pituitary adenomas, whereas 1 patient had a metastatic neuroendocrine tumor (carcinoid). Loss-of-heterozygosity was detected in two of five parathyroid adenomas, supporting that CDKN1B acts as a tumor suppressor gene. Thirty cases representing 16 different CDKN1B variants have previously been reported, and these cases presented primarily with primary hyperparathyroidism and functioning and nonfunctioning pituitary tumors. Conclusion Hypercalcemia due to primary hyperparathyroidism and pituitary tumors are common in MEN4. Gastrointestinal neuroendocrine tumors appear to be less prevalent in MEN4 than in MEN1.

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