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Hereditary medullary thyroid carcinoma syndromes: experience from western India

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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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Authors and Affiliations

  1. Department of Endocrinology, Seth G.S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, 4000012, India

    Chakra Diwaker, Sanjeet Kumar Jaiswal, Ravikumar Shah, Virendra Patil, Anurag Lila, Nalini Shah & Tushar Bandgar

  2. Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru, Karnataka, India

    Vijaya Sarathi

  3. Department of Head & Neck Surgical Oncology, Tata Memorial Hospital, Mumbai, India

    Anuja Deshmukh

  4. Department of Surgical Oncology, Malabar Cancer Centre, Thalaserry, Kerala, India

    Anand Ebin Thomas

  5. Department of Uro-Oncology, Tata Memorial Hospital, Mumbai, India

    Gagan Prakash

  6. Department of Nuclear Medicine, Bhabha Atomic Research Centre, Mumbai, Maharashtra, India

    Gaurav Malhotra

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  1. Chakra Diwaker
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Diwaker, C., Sarathi, V., Jaiswal, S.K. et al. Hereditary medullary thyroid carcinoma syndromes: experience from western India. Familial Cancer 20, 241–251 (2021). https://doi.org/10.1007/s10689-020-00219-9

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