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01-07-2021 | Hyperparathyroidism | Original Article

Hereditary medullary thyroid carcinoma syndromes: experience from western India

Authors: Chakra Diwaker, Vijaya Sarathi, Sanjeet Kumar Jaiswal, Ravikumar Shah, Anuja Deshmukh, Anand Ebin Thomas, Gagan Prakash, Gaurav Malhotra, Virendra Patil, Anurag Lila, Nalini Shah, Tushar Bandgar

Published in: Familial Cancer | Issue 3/2021

Abstract

The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Primary hyperparathyroidism (PHPT)] and compared with apparently sporadic MTC. The records of 97 (51 sporadic and 46 hereditary) consecutive MTC patients were retrospectively analyzed. RET mutation was available in 38 HMTC patients. HMTC group was subclassified into Multiple endocrine neoplasia (MEN) 2A index (n = 25), MEN2B index (n = 8), and MEN2A detected by familial screening (n = 12). Patients with HMTC and MEN2B index were younger at presentation than sporadic MTC. MEN2A patients detected by familial screening, but not MEN2A index and MEN2B index patients, had significantly lower serum calcitonin, smaller thyroid nodule size, more frequent early stage presentation (AJCC Stage ≤ II), and higher cure rate than sporadic MTC, which emphasizes the need for early diagnosis. RET (REarranged during Transfection) 634 mutations were the most common cause of HMTC and more frequently associated with PCC (overall 54% and 100% in those aged ≥ 35 years). Patients in ATA-Highest (HST) group had a universal presentation in stage IV with no cure. In contrast, the cure rate and postoperative disease progression (calcitonin doubling time) were similar between ATA-High (H) and ATA- Moderate (MOD) groups, suggesting the need for similar follow-up strategies for the latter two groups. Increased awareness of endocrine (PCC/PHPT) and non endocrine components may facilitate early diagnosis and management.

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Title: Hereditary medullary thyroid carcinoma syndromes: experience from western India
Authors: Chakra Diwaker
Vijaya Sarathi
Sanjeet Kumar Jaiswal
Ravikumar Shah
Anuja Deshmukh
Anand Ebin Thomas
Gagan Prakash
Gaurav Malhotra
Virendra Patil
Anurag Lila
Nalini Shah
Tushar Bandgar
Publication date: 01-07-2021
Publisher: Springer Netherlands
Keyword: Hyperparathyroidism
Published in: Familial Cancer / Issue 3/2021
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-020-00219-9

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