TY - JOUR
T1 - Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women
T2 - Syndrome or coincidence
AU - Perry, Colin G.
AU - Young, William F.
AU - McWhinney, Sarah R.
AU - Bei, Thalia
AU - Stergiopoulos, Sotirios
AU - Knudson, Ryan A.
AU - Ketterling, Rhett P.
AU - Eng, Charis
AU - Stratakis, Constantine A.
AU - Carney, J. Aidan
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2006/1
Y1 - 2006/1
N2 - Functioning paraganglioma and gastrointestinal stromal tumor (GIST) are uncommon tumors that occur mostly in a sporadic and isolated form, occasionally as components of multiple neoplasia syndromes, either separately or together. Separately, they occur in several inherited syndromes including multiple endocrine neoplasia 2, and the GIST, lentigines, and mast cell tumor syndrome. Together, they are variably prominent components of three syndromes: the familial paraganglioma and gastric GIST syndrome, neurofibromatosis type 1, and the Carney triad. The two former conditions are inherited as autosomal dominant traits; the latter does not appear to be inherited and affects young women predominantly. This article reports the nonfamilial occurrence of functioning paraganglioma and GIST of the jejunum in 3 women, 1 young (22 years) at initial presentation. The occurrences were unexpected because of the infrequency of the tumors. The neoplasms, respectively, did not show germline SDHA, SDHB, SDHC, and SDHD, and KIT mutations associated with familial paraganglioma and familial GIST. The paraganglioma-jejunal GIST combination may be the harbinger of a rare genetic syndrome, a variant of the Carney triad or the paraganglioma-gastric stromal sarcoma syndrome, or be coincidental.
AB - Functioning paraganglioma and gastrointestinal stromal tumor (GIST) are uncommon tumors that occur mostly in a sporadic and isolated form, occasionally as components of multiple neoplasia syndromes, either separately or together. Separately, they occur in several inherited syndromes including multiple endocrine neoplasia 2, and the GIST, lentigines, and mast cell tumor syndrome. Together, they are variably prominent components of three syndromes: the familial paraganglioma and gastric GIST syndrome, neurofibromatosis type 1, and the Carney triad. The two former conditions are inherited as autosomal dominant traits; the latter does not appear to be inherited and affects young women predominantly. This article reports the nonfamilial occurrence of functioning paraganglioma and GIST of the jejunum in 3 women, 1 young (22 years) at initial presentation. The occurrences were unexpected because of the infrequency of the tumors. The neoplasms, respectively, did not show germline SDHA, SDHB, SDHC, and SDHD, and KIT mutations associated with familial paraganglioma and familial GIST. The paraganglioma-jejunal GIST combination may be the harbinger of a rare genetic syndrome, a variant of the Carney triad or the paraganglioma-gastric stromal sarcoma syndrome, or be coincidental.
KW - Carney triad
KW - GIST
KW - Genetics
KW - Jejunum
KW - Multiple neoplasia syndrome
KW - Paraganglioma
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U2 - 10.1097/01.pas.0000178087.69394.9f
DO - 10.1097/01.pas.0000178087.69394.9f
M3 - Article
C2 - 16330941
AN - SCOPUS:33645074971
SN - 0147-5185
VL - 30
SP - 42
EP - 49
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 1
ER -