Deletion (5q) in a desmoid tumor of a patient with Gardner's syndrome

Astrid Dangel; Aurelia M. Meloni; Henry T. Lynch; Avery A. Sandberg

doi:10.1016/0165-4608(94)90053-1

Deletion (5q) in a desmoid tumor of a patient with Gardner's syndrome

Astrid Dangel, Aurelia M. Meloni, Henry T. Lynch, Avery A. Sandberg

Department of Preventive Medicine

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

Abstract

Desmoid tumors are associated with as many as 20% of cases of familial adenomatous polyposis (FAP) and Gardner's syndrome. In the present study, four specimens from different regions of a massive intraabdominal desmoid tumor from a 23-year-old white male with Gardner's syndrome were analyzed cytogenetically. Two different clonal abnormalities were observed. Two of the four specimens analyzed showed a del(5)(q14q31), which involves the region q21→22 where the familial adenomatous polyposis gene is localized. In the two other specimens, a balanced translocation involving chromosomes 3 and 4 and an inv(4) was detected. Our findings confirm previous reports about the importance of chromosome defects on 5q in development of desmoid tumors, particularly in patients with Gardner's syndrome.

Original language	English (US)
Pages (from-to)	94-98
Number of pages	5
Journal	Cancer Genetics and Cytogenetics
Volume	78
Issue number	1
DOIs	https://doi.org/10.1016/0165-4608(94)90053-1
State	Published - Nov 1994

All Science Journal Classification (ASJC) codes

Molecular Biology
Genetics
Cancer Research

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title = "Deletion (5q) in a desmoid tumor of a patient with Gardner's syndrome",

abstract = "Desmoid tumors are associated with as many as 20% of cases of familial adenomatous polyposis (FAP) and Gardner's syndrome. In the present study, four specimens from different regions of a massive intraabdominal desmoid tumor from a 23-year-old white male with Gardner's syndrome were analyzed cytogenetically. Two different clonal abnormalities were observed. Two of the four specimens analyzed showed a del(5)(q14q31), which involves the region q21→22 where the familial adenomatous polyposis gene is localized. In the two other specimens, a balanced translocation involving chromosomes 3 and 4 and an inv(4) was detected. Our findings confirm previous reports about the importance of chromosome defects on 5q in development of desmoid tumors, particularly in patients with Gardner's syndrome.",

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AU - Dangel, Astrid

AU - Meloni, Aurelia M.

AU - Lynch, Henry T.

AU - Sandberg, Avery A.

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AB - Desmoid tumors are associated with as many as 20% of cases of familial adenomatous polyposis (FAP) and Gardner's syndrome. In the present study, four specimens from different regions of a massive intraabdominal desmoid tumor from a 23-year-old white male with Gardner's syndrome were analyzed cytogenetically. Two different clonal abnormalities were observed. Two of the four specimens analyzed showed a del(5)(q14q31), which involves the region q21→22 where the familial adenomatous polyposis gene is localized. In the two other specimens, a balanced translocation involving chromosomes 3 and 4 and an inv(4) was detected. Our findings confirm previous reports about the importance of chromosome defects on 5q in development of desmoid tumors, particularly in patients with Gardner's syndrome.

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