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First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations

Jarhult, Johannes; Landerholm, Kalle; Falkmer, Sture; Nordenskjold, Magnus; Sundler, Frank LU and Wierup, Nils LU (2010) In Neuroendocrinology 91(4). p.318-323
Abstract
Background/Aims: There is an established association between the multiple endocrine neoplasia type 1 (MEN 1) syndrome and foregut carcinoids. Some registry studies also indicate that offspring to carcinoid patients run an increased risk of developing a carcinoid tumor themselves. However, there are only scattered reports of gastrointestinal carcinoids in two generations. The aim of this study was to describe the clinical characteristics as well as the histopathological, immunohistochemical (IHC) and genetic data of metastasizing ileal carcinoids in three consecutive first-degree relatives. Methods: The histopathological and IHC analyses were performed on newly cut sections of the tumor specimens and included growth pattern, proliferation... (More)
Background/Aims: There is an established association between the multiple endocrine neoplasia type 1 (MEN 1) syndrome and foregut carcinoids. Some registry studies also indicate that offspring to carcinoid patients run an increased risk of developing a carcinoid tumor themselves. However, there are only scattered reports of gastrointestinal carcinoids in two generations. The aim of this study was to describe the clinical characteristics as well as the histopathological, immunohistochemical (IHC) and genetic data of metastasizing ileal carcinoids in three consecutive first-degree relatives. Methods: The histopathological and IHC analyses were performed on newly cut sections of the tumor specimens and included growth pattern, proliferation index (Ki67) as well as expression of established neuroendocrine markers and recently introduced cocaine-amphetamine-regulated transcript (CART). The genetic analyses were focused on establishing whether a connection with the MEN 1 syndrome existed in this family, by means of mutation screening using polymerase chain reaction, multiple ligation-dependent probe amplification, and genotyping using fluorescent-labeled microsatellite markers. Results: Histopathology and IHC revealed that the tumors were virtually identical, with only minor differences in proliferation index and expression of CART. Genetic analyses indicated that the inheritance of the small bowel carcinoids in the family was not linked to the MEN1 gene. Conclusion: Metastasizing small bowel carcinoids have been found in first-degree relatives in three consecutive generations. All three tumors were very similar when characterized by histopathology and IHC. Based on clinical findings and genetic analyses, it seems unlikely, although not completely excluded, that inheritance was linked to the MEN 1 syndrome. Copyright (c) 2010 S. Karger AG, Basel (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Carcinoid tumors, Ileum, Neuroendocrine tumor
in
Neuroendocrinology
volume
91
issue
4
pages
318 - 323
publisher
Karger
external identifiers
  • wos:000278959700005
  • scopus:77954659220
ISSN
0028-3835
DOI
10.1159/000299790
language
English
LU publication?
yes
id
59ac858e-a5f5-4049-9f00-40f9f5ab7121 (old id 1630309)
date added to LUP
2010-07-22 14:55:34
date last changed
2018-05-29 12:15:50
@article{59ac858e-a5f5-4049-9f00-40f9f5ab7121,
  abstract     = {Background/Aims: There is an established association between the multiple endocrine neoplasia type 1 (MEN 1) syndrome and foregut carcinoids. Some registry studies also indicate that offspring to carcinoid patients run an increased risk of developing a carcinoid tumor themselves. However, there are only scattered reports of gastrointestinal carcinoids in two generations. The aim of this study was to describe the clinical characteristics as well as the histopathological, immunohistochemical (IHC) and genetic data of metastasizing ileal carcinoids in three consecutive first-degree relatives. Methods: The histopathological and IHC analyses were performed on newly cut sections of the tumor specimens and included growth pattern, proliferation index (Ki67) as well as expression of established neuroendocrine markers and recently introduced cocaine-amphetamine-regulated transcript (CART). The genetic analyses were focused on establishing whether a connection with the MEN 1 syndrome existed in this family, by means of mutation screening using polymerase chain reaction, multiple ligation-dependent probe amplification, and genotyping using fluorescent-labeled microsatellite markers. Results: Histopathology and IHC revealed that the tumors were virtually identical, with only minor differences in proliferation index and expression of CART. Genetic analyses indicated that the inheritance of the small bowel carcinoids in the family was not linked to the MEN1 gene. Conclusion: Metastasizing small bowel carcinoids have been found in first-degree relatives in three consecutive generations. All three tumors were very similar when characterized by histopathology and IHC. Based on clinical findings and genetic analyses, it seems unlikely, although not completely excluded, that inheritance was linked to the MEN 1 syndrome. Copyright (c) 2010 S. Karger AG, Basel},
  author       = {Jarhult, Johannes and Landerholm, Kalle and Falkmer, Sture and Nordenskjold, Magnus and Sundler, Frank and Wierup, Nils},
  issn         = {0028-3835},
  keyword      = {Carcinoid tumors,Ileum,Neuroendocrine tumor},
  language     = {eng},
  number       = {4},
  pages        = {318--323},
  publisher    = {Karger},
  series       = {Neuroendocrinology},
  title        = {First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations},
  url          = {http://dx.doi.org/10.1159/000299790},
  volume       = {91},
  year         = {2010},
}