Endocrine Pathology

, Volume 24, Issue 3, pp 144–148

A Novel Mutation (P236S) in the Succinate Dehydrogenase Subunit B Gene in a Japanese Patient with a Posterior Mediastinal Paraganglioma

  • Haruhiro Sato
  • Sunao Shoji
  • Hiroshi Kajiwara
  • Johbu Itoh
  • Robert Yoshiyuki Osamura
Article

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 69-year-old Japanese woman with a posterior mediastinal PGL. We summarize the clinical presentation, diagnostic work-up, 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 (c.843 C > T) mutation in SDHB. The P236S germline mutation in SDHB was associated with posterior mediastinal PGL. Strict follow-up of the patient is necessary because the SDHB mutation may be related to malignancy.

Keywords

Paraganglioma SDHB Mutation P236S 

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Haruhiro Sato
    • 1
  • Sunao Shoji
    • 2
  • Hiroshi Kajiwara
    • 3
  • Johbu Itoh
    • 3
  • Robert Yoshiyuki Osamura
    • 4
  1. 1.Department of MedicineTokai University School of MedicineIseharaJapan
  2. 2.Department of SurgeryTokai University School of MedicineIseharaJapan
  3. 3.Department of PathologyTokai University School of MedicineIseharaJapan
  4. 4.Department of Pathology, Mita HospitalInternational University of Health and WelfareTokyoJapan

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