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Dig Liver Dis. 2017 Jan;49(1):98-102. doi: 10.1016/j.dld.2016.10.007. Epub 2016 Oct 20.

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.

Author information

1
Department of Hepato-Gastroenterology and Digestive Oncology, Robert-Debré University Hospital, Reims, France.
2
Department of Genetic and Molecular Biology, Cochin University Hospital, APHP, Paris, France; EA7331, Paris Descartes University, Paris, France.
3
Department of Pathology, Robert-Debré University Hospital, Reims, France.
4
Department of Genetic and Molecular Biology, Cochin University Hospital, APHP, Paris, France; INSERM U970, Paris Descartes University, Paris, France.
5
Department of Hepato-Gastroenterology and Digestive Oncology, Robert-Debré University Hospital, Reims, France. Electronic address: gcadiot@chu-reims.fr.

Abstract

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.

KEYWORDS:

Carcinoid tumors; Familial; Neuroendocrine tumors; Small intestine

PMID:
27825921
DOI:
10.1016/j.dld.2016.10.007
[Indexed for MEDLINE]

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