MEN 2A family--prophylactic thyroidectomy for asymptomatic siblings with positive 634 codon mutation.
نویسندگان
چکیده
Multiple endocrine neoplasia 2a (MEN2a) syndrome is one of the rare genetic disorder where prophylactic thyroidectomy is recommended for RET mutation carriers due to increased risk for developing MTC during lifetime. We present a case report of prophylactic total thyroidectomy in a family based on genetic screening that proved to be MTC on histopathology. This is the first reported case in India where siblings underwent codon oriented prophylactic total thyroidectomy based solely on genetic analysis for MEN2a syndrome.
منابع مشابه
Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).
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) w...
متن کاملProphylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing.
OBJECTIVE To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. DESIGN Retrospective study. SETTING University teaching hospital, Hong Kong. PATIENTS Twenty-two patients from eight multiple endocrine neoplasia 2A families underwent prophylactic total thyroidectomy based on a positive RET mutation genetic testing. All mutations we...
متن کاملMultiple endocrine neoplasia type 2A in a kindred with C634Y mutation.
Multiple endocrine neoplasia type 2A (MEN 2A) is most frequently caused by codon 634 activating mutations. Medullary thyroid carcinoma has occurred before the age of 2, with pheochromocytomas and primary hyperparathyroidism occurring later in childhood. We report cases of 4 siblings with C634Y-positive MEN 2A (all <11 years old): 3 with medullary thyroid carcinoma (1 had nodal metastasis, and a...
متن کاملTiming and criteria for prophylactic thyroidectomy in asymptomatic RET carriers – the role of Ct serum level
Authors summarize in this brief review results of European discussion, held on ETA-CRN Meeting in Lisbon, 2009, on the American Thyroid Association Medullary Thyroid Cancer (MTC) Guidelines published in the same year and focus on the timing of prophylactic thyroidectomy. ATA 2009 guidelines classified RET protooncogene mutation carriers into 4 levels: A, B, C, D. ATA for prophylactic thyroidect...
متن کاملBiological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
We investigated the transforming activity of the ret proto-oncogene with a mutation in cysteine 609, 611, 618, 620, 630, or 634 detected in patients with multiple endocrine neoplasia type 2A (MEN 2A), familial medullary thyroid carcinoma (FMTC), or Hirschsprung's disease. Of these cysteine mutations, codon 634 mutations are known to be correlated with the development of MEN 2A, whereas codon 60...
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 60 شماره
صفحات -
تاریخ انتشار 2012