Journal article
Familial Adenomatous Polyposis-Associated Thyroid Cancer: A Clinical, Pathological, and Molecular Genetics Study
The American journal of pathology, Vol.154(1), pp.127-135
01/01/1999
DOI: 10.1016/S0002-9440(10)65259-5
PMCID: PMC1853451
PMID: 9916927
Abstract
We report two familial adenomatous polyposis (FAP) kindreds with thyroid cancer, harboring two apparently novel germline
APC
mutations. The clinical phenotype in the first kindred was typical of classical adenomatous polyposis, whereas the second kindred exhibited an attenuated adenomatous polyposis phenotype. There was a female predominance with a mean age of 34 years (range, 23–49) at cancer diagnosis. Multiple sections of four thyroid tumors from three FAP patients were analyzed in detail. Histological examination of thyroid tumors showed a range of morphological features. Some tumors exhibited typical papillary architecture and were associated with multifocal carcinoma; in others, there were unusual areas of cribriform morphology, and spindle-cell components with whorled architecture. Immunoreactivity for thyroglobulin and high molecular weight keratins was strong. Somatic
APC
mutation analysis revealed an insertion of a novel long interspersed nuclear element-1-like sequence in one tumor sample, suggesting disruption of
APC
. In three FAP patients,
ret
/PTC-1 and
ret
/PTC-3 were expressed in thyroid cancers. No positivity was observed for
ret
/PTC-2. p53 immunohistochemistry was positive in only one section of a recurrent thyroid tumor sample. Our data suggest that genetic alterations in FAP- associated thyroid cancer involve loss of function of
APC
along with the gain of function of
ret
/PTC, while alterations of
p53
do not appear to be an early event in thyroid tumorigenesis.
Details
- Title: Subtitle
- Familial Adenomatous Polyposis-Associated Thyroid Cancer: A Clinical, Pathological, and Molecular Genetics Study
- Creators
- Claudio Soravia - Mount Sinai HospitalSonia L. Sugg - Mount Sinai HospitalTerri Berk - Mount Sinai HospitalAngela Mitri - University of TorontoHong Cheng - University of TorontoSteven Gallinger - Mount Sinai HospitalZane Cohen - Mount Sinai HospitalSylvia L. Asa - University of TorontoBharati V. Bapat - University of Toronto
- Resource Type
- Journal article
- Publication Details
- The American journal of pathology, Vol.154(1), pp.127-135
- DOI
- 10.1016/S0002-9440(10)65259-5
- PMID
- 9916927
- PMCID
- PMC1853451
- NLM abbreviation
- Am J Pathol
- ISSN
- 0002-9440
- eISSN
- 1525-2191
- Publisher
- American Society for Investigative Pathology
- Language
- English
- Date published
- 01/01/1999
- Academic Unit
- Surgery
- Record Identifier
- 9984322825202771
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