A Novel Mutation P236S in the Succinate Dehydrog

Authors: Haruhiro Sato Sunao Shoji Hiroshi Kajiwara Johbu Itoh Robert Yoshiyuki Osamura

Publish Date: 2013/06/19

Volume: 24, Issue: 3, Pages: 144-148

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Abstract

Succinate dehydrogenase subunit B gene SDHB is associated with the development of hereditary paraganglioma PGL and pheochromocytoma PCC Here we describe a novel germline mutation in SDHB in a 69yearold Japanese woman with a posterior mediastinal PGL We summarize the clinical presentation diagnostic workup and pathological features of a patient with a posterior mediastinal PGL and review the pertinent literature Direct sequencing of SDHB and SDHD was performed The patient presented with a posterior mediastinal tumor and was normotensive She underwent abdominal tumor resection at the age of 38 years but clinical and pathological diagnoses were unknown She had no family history of hypertension PGL or PCC Imaging studies suggested that the tumor was neurogenic Endocrinological examinations showed normal plasma catecholamine levels The tumor was completely removed without metastasis Pathological findings confirmed PGL Immunohistochemical staining showed that the tumor cells were positive for chromogranin A synaptophysin and CD56 and the Ki67 index was low 1  The patient has not experienced recurrence or metastasis for the last 5 years DNA sequencing revealed a novel P236S c843 C T mutation in SDHB The P236S germline mutation in SDHB was associated with posterior mediastinal PGL Strict followup of the patient is necessary because the SDHB mutation may be related to malignancy

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