TY - JOUR
T1 - A non-catecholamine-producing sympathetic paraganglioma of the spermatic cord
T2 - The importance of performing candidate gene mutation analysis
AU - Alataki, Despoina
AU - Triantafyllidis, A.
AU - Gaal, José
AU - Rodiou, C.
AU - Vouros, J.
AU - Papathanasiou, A.
AU - Papanicolaou, A.
AU - Rombis, V.
AU - De Krijger, Ronald R.
PY - 2010/11/1
Y1 - 2010/11/1
N2 - Background: Catecholamine-producing tumours are called pheochromocytomas when they are located in the adrenal gland and sympathetic paragangliomas when they are located elsewhere in the abdomen. Rarely these tumours do not produce catecholamines and even more rarely they arise in the spermatic cord. Over the past decade, systematic mutation analysis of apparently sporadic cases of pheochromocytomas and paragangliomas has elucidated the frequent presence of germ line mutations in one of five candidate genes, including RET, VHL, SDHB, SDHC, and SDHD. Clinical history and methods: We describe a 45-year-old man with a non catecholamine-producing paraganglioma of the spermatic cord. We performed SDHB immunohistochemistry and performed mutation analysis of the SDHB, SDHC, and SDHD genes. Results: There was no staining of tumour cells with SDHB immunohistochemistry, indicative of an SDH mutation. Mutation analysis demonstrated a germ line SDHD mutation (p.Val147Met). Conclusions: Systematic mutation analysis is required in paraganglioma patients for the detection of germ line mutations. This should be preceded by SDHB immunohistochemistry to limit the number of genes to be tested.
AB - Background: Catecholamine-producing tumours are called pheochromocytomas when they are located in the adrenal gland and sympathetic paragangliomas when they are located elsewhere in the abdomen. Rarely these tumours do not produce catecholamines and even more rarely they arise in the spermatic cord. Over the past decade, systematic mutation analysis of apparently sporadic cases of pheochromocytomas and paragangliomas has elucidated the frequent presence of germ line mutations in one of five candidate genes, including RET, VHL, SDHB, SDHC, and SDHD. Clinical history and methods: We describe a 45-year-old man with a non catecholamine-producing paraganglioma of the spermatic cord. We performed SDHB immunohistochemistry and performed mutation analysis of the SDHB, SDHC, and SDHD genes. Results: There was no staining of tumour cells with SDHB immunohistochemistry, indicative of an SDH mutation. Mutation analysis demonstrated a germ line SDHD mutation (p.Val147Met). Conclusions: Systematic mutation analysis is required in paraganglioma patients for the detection of germ line mutations. This should be preceded by SDHB immunohistochemistry to limit the number of genes to be tested.
KW - Immunohistochemistry
KW - SDHD
KW - Spermatic cord
KW - Sympathetic paraganglioma
UR - http://www.scopus.com/inward/record.url?scp=78149469912&partnerID=8YFLogxK
U2 - 10.1007/s00428-010-0966-9
DO - 10.1007/s00428-010-0966-9
M3 - Article
C2 - 20842377
AN - SCOPUS:78149469912
SN - 0945-6317
VL - 457
SP - 619
EP - 622
JO - Virchows Archiv
JF - Virchows Archiv
IS - 5
ER -