TY - JOUR
AU - Sirohi, Deepika
AB - Sir: Composite pheochromocytoma/paraganglioma–ganglioneuroma (composite‐PPG) is a rare adrenal tumour with overlapping histological features of both pheochromocytoma/paraganglioma and ganglioneuroma. In 2014 the Endocrine Society recommended succinate dehydrogenase (SDH) testing of all pheochromocytoma/paragangliomas because at least a third of patients carry germline mutations, SDHB mutations suggest more aggressive behaviour, and for consideration of familial testing/early diagnosis of family members.1 Succinate dehydrogenase B (SDHB) immunohistochemistry (IHC) has been identified as an accurate and cost‐effective screening tool to satisfy this recommendation, as it will identify most SDHx mutations, with subsequent referral to medical genetics for further confirmatory testing and determination of specific subunit (A, B, C, D or SDHAF2).2SDH‐deficient composite‐PPG tumour is not yet well characterised in the literature, given its rarity; however, a small study (n = 8) found that all tested cases of composite‐PPG demonstrated retained IHC expression of SDHB.3 We report here the first case, to the best of our knowledge, of a composite‐PPG tumour with germline SDH mutation.A 40‐year‐old male was diagnosed with hypertension with associated gastrointestinal disturbances and extreme thirst, and during work‐up elevated 24‐hour urine metanephrines were identified (~1.5 to 2.5× normal). Abdominal magnetic resonance imaging (MRI) revealed a 7.3‐cm right adrenal mass with no evidence of metastasis. Of note, the patient reported 
TI - Composite pheochromocytoma/paraganglioma‐ganglioneuroma with a germline SDHC mutation: a first of its kind case report
JO - Histopathology
DO - 10.1111/his.14776
DA - 2022-11-01
UR - https://www.deepdyve.com/lp/wiley/composite-pheochromocytoma-paraganglioma-ganglioneuroma-with-a-AcPEnmuo9P
SP - 682
EP - 685
VL - 81
IS - 5
DP - DeepDyve
ER -