Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

IF 2.8 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Endocrine Connections Pub Date : 2025-10-06 Print Date: 2025-10-01 DOI:10.1530/EC-25-0500

Ketki Sunil Ambulkar, Anima Sharma, Vijaya Sarathi, Saba Samad Memon, Anurag Ranjan Lila, Rohit Barnabas, Manjiri Karlekar, Virendra Patil, Samiksha Hegisthe, Gwendolyn Fernandes, Sameer Rege, Gaurav Malhotra, Hemangini Thakkar, Nalini S Shah, Tushar R Bandgar

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引用次数: 0

Abstract

Objective: Data on succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx PPGL) in India are limited. We describe the clinical and genetic characteristics of SDHx PPGL from a single center in western India.

Design, patients, and measurements: A retrospective review of SDHx PPGL patients was performed for clinical, imaging, genetic, and treatment details.

Results: Among 46 patients (39 probands, 24 males), the median age at diagnosis was 32.5 (IQR: 23-41) years. We report the youngest patient with SDHC (age 8 years). SDHB mutations were the most prevalent (24/39 probands), followed by SDHD, SDHC, SDHA, and SDHAF2. We report the first Indian family with the SDHAF2 c.232G>A mutation (paternal inheritance) and the index patient with metastasis. Paraganglioma (PGL) (single or multiple) was common (80%), followed by pheochromocytoma (11%) and multifocal PPGL (9%). sPGL predominated in the SDHB cohort (80.6%), whereas multiple/multifocal PPGLs were common in others. Biochemically silent tumors were noted in 26% patients. 68Ga-DOTATATE PET/CT was the most sensitive imaging modality. The prevalence of metastasis was high in patients with SDHB variants (51.7%) but was also substantial in those with other SDHx genes (29.4%). Most probands harbored unique variants, and we report ten novel SDHx gene mutations. Surgical treatment was performed in 67.3% cases, and systemic radiotherapy was utilized in advanced cases, achieving stable disease in most cases.

Conclusion: In this largest Indian cohort of SDHx PPGL, a high metastatic burden, SDHB dominance, and novel gene variants were noted.

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琥珀酸脱氢酶相关的PPGL：来自印度研究的临床和遗传见解。

目的：印度琥珀酸脱氢酶相关嗜铬细胞瘤和副神经节瘤（SDHx PPGL）的数据有限。我们描述了来自印度西部单一中心的SDHx PPGL的临床和遗传特征。设计、患者和测量：对SDHx PPGL患者的临床、影像学、遗传学和治疗细节进行回顾性回顾。结果：46例患者（先证者39例，男性24例），诊断时中位年龄为32.5岁（IQR: 23-41）。我们报告了最年轻的SDHC患者（8岁）。SDHB突变最为普遍（24/39先证者），其次是SDHD、SDHC、SDHA和sdhf2。我们报告了第一个印度家族与SDHAF2 c.232G>突变（父系遗传），并索引患者转移。副神经节瘤（PGL）（单发或多发）最常见（80%），其次是嗜铬细胞瘤（11%）和多灶性PPGL（9%）。sPGL在SDHB队列中占主导地位（80.6%），而多发性/多灶性ppgl在其他人群中很常见。26%的患者存在生物化学沉默的肿瘤。68Ga-DOTATATE PET/CT是最敏感的成像方式。SDHB变异患者的转移率很高（51.7%），但其他SDHx基因患者的转移率也很高（29.4%）。大多数先证者都有独特的变异，我们报告了10个新的SDHx基因突变。67.3%的病例行手术治疗，晚期患者行全身放疗，多数病例病情稳定。结论：在这个最大的印度SDHx PPGL队列中，注意到高转移负担，SDHB优势和新的基因变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrine Connections Medicine-Internal Medicine

CiteScore

5.00

自引率

3.40%

发文量

361

审稿时长

6 weeks

期刊介绍： Endocrine Connections publishes original quality research and reviews in all areas of endocrinology, including papers that deal with non-classical tissues as source or targets of hormones and endocrine papers that have relevance to endocrine-related and intersecting disciplines and the wider biomedical community.