{"title":"琥珀酸脱氢酶相关的PPGL：来自印度研究的临床和遗传见解。","authors":"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","doi":"10.1530/EC-25-0500","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Design, patients, and measurements: </strong>A retrospective review of SDHx PPGL patients was performed for clinical, imaging, genetic, and treatment details.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>In this largest Indian cohort of SDHx PPGL, a high metastatic burden, SDHB dominance, and novel gene variants were noted.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.\",\"authors\":\"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\",\"doi\":\"10.1530/EC-25-0500\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Design, patients, and measurements: </strong>A retrospective review of SDHx PPGL patients was performed for clinical, imaging, genetic, and treatment details.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>In this largest Indian cohort of SDHx PPGL, a high metastatic burden, SDHB dominance, and novel gene variants were noted.</p>\",\"PeriodicalId\":11634,\"journal\":{\"name\":\"Endocrine Connections\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-10-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Endocrine Connections\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1530/EC-25-0500\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/10/1 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine Connections","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1530/EC-25-0500","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/10/1 0:00:00","PubModel":"Print","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.
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.
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.
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