التفاصيل البيبلوغرافية
| العنوان: |
Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing. |
| المؤلفون: |
de Mestier, Louis, Pasmant, Eric, Fleury, Clémence, Brixi, Hedia, Sohier, Pierre, Féron, Thomas, Diebold, Marie-Danièle, Clauser, Eric, Cadiot, Guillaume |
| المصدر: |
Digestive & Liver Disease; Jan2017, Vol. 49 Issue 1, p98-102, 5p |
| مستخلص: |
Background Familial small-intestine neuroendocrine tumors (SI-NETs) are an exceptional inherited entity. Underlying predisposing mechanisms are unelucidated, but inositol polyphosphate multikinase ( IPMK ) gene alterations might promote their tumorigenesis. Methods A retrospective-prospective nationwide cohort was constituted, by including patients with proven SI-NETs and at least one relative with the same disease. We performed constitutional and somatic IPMK sequencing, and somatic DNA comparative genomic hybridization (CGH). Results We included 17 patients from 8 families, who were characterized by high prevalence (57%) of multiple SI-NETs, and high frequency of distant metastases (82%) and carcinoid syndrome (65%). No IPMK mutation was found in constitutional or tumor DNA. CGH array revealed recurrent chromosome-18 deletions but no alteration in the IPMK region. Conclusion We report here the first European series of patients with familial SI-NETs. Predisposing mechanisms may not involve the IPMK -encoding sequence or chromosomal region and might not differ from those of sporadic SI-NETs. [ABSTRACT FROM AUTHOR] |
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