naa a22 4500 510773427 CHVBK 20180411083222.0 cr unu---uuuuu 180411e20130901xx s 000 0 eng 10.1007/s12022-013-9252-0 doi (NATIONALLICENCE)springer-10.1007/s12022-013-9252-0 A Novel Mutation (P236S) in the Succinate Dehydrogenase Subunit B Gene in a Japanese Patient with a Posterior Mediastinal Paraganglioma [Elektronische Daten] [Haruhiro Sato, Sunao Shoji, Hiroshi Kajiwara, Johbu Itoh, Robert Osamura] 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 38years, 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 5years. 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. Springer Science+Business Media New York, 2013 Paraganglioma nationallicence SDHB nationallicence Mutation nationallicence P236S nationallicence Sato Haruhiro Department of Medicine, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut Shoji Sunao Department of Surgery, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut Kajiwara Hiroshi Department of Pathology, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut Itoh Johbu Department of Pathology, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut Osamura Robert Department of Pathology, Mita Hospital, International University of Health and Welfare, Mita, 1-4-3, Minato-ku, 108-8329, Tokyo, Japan aut Endocrine Pathology Springer US; http://www.springer-ny.com 24/3(2013-09-01), 144-148 1046-3976 24:3<144 2013 24 12022 https://doi.org/10.1007/s12022-013-9252-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12022-013-9252-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sato Haruhiro Department of Medicine, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut NATIONALLICENCE 700 1- Shoji Sunao Department of Surgery, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut NATIONALLICENCE 700 1- Kajiwara Hiroshi Department of Pathology, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut NATIONALLICENCE 700 1- Itoh Johbu Department of Pathology, Tokai University School of Medicine, Shimokasuya 143, 259-1193, Isehara, Kanagawa, Japan aut NATIONALLICENCE 700 1- Osamura Robert Department of Pathology, Mita Hospital, International University of Health and Welfare, Mita, 1-4-3, Minato-ku, 108-8329, Tokyo, Japan aut NATIONALLICENCE 773 0- Endocrine Pathology Springer US; http://www.springer-ny.com 24/3(2013-09-01), 144-148 1046-3976 24:3<144 2013 24 12022 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer