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Classic Kaposi's sarcoma presenting first with gastrointestinal tract involvement in a HIV-negative Inuit male - A case report and review of the literature.

https://arctichealth.org/en/permalink/ahliterature76072
Source
Pathol Res Pract. 2006 May 6;
Publication Type
Article
Date
May-6-2006
Author
Brinda Balachandra
Ellen Tunitsky
Shaheenah Dawood
Ingrid Hings
Victoria A Marcus
Author Affiliation
Department of Pathology McGill University Health Centre – Montreal General Hospital, 1650 Cedar Ave., Montreal, Quebec, Canada H3G 1A4.
Source
Pathol Res Pract. 2006 May 6;
Date
May-6-2006
Language
English
Publication Type
Article
Abstract
Kaposi's sarcoma (KS) is a multicentric low-grade vascular malignancy. In North America, it is usually seen in AIDS and solid organ transplant populations. Classic KS is a subtype that traditionally occurs in elderly HIV-negative males of Mediterranean, Eastern European, and Jewish descent. Patients with classic KS characteristically present with skin lesions in the distal extremities. Involvement of the viscera is uncommon in classic KS, but may occur in the late stages of the disease. We report the first case of classic KS presenting in the gastrointestinal tract of an elderly HIV-negative Inuit male from Northern Quebec, Canada.
PubMed ID
16682127 View in PubMed
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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

https://arctichealth.org/en/permalink/ahliterature260582
Source
J Med Genet. 2015 Feb 17;
Publication Type
Article
Date
Feb-17-2015
Author
Lili Li
Nancy Hamel
Kristi Baker
Michael J McGuffin
Martin Couillard
Adrian Gologan
Victoria A Marcus
Bernard Chodirker
Albert Chudley
Camelia Stefanovici
Anne Durandy
Robert A Hegele
Bing-Jian Feng
David E Goldgar
Jun Zhu
Marina De Rosa
Stephen B Gruber
Katharina Wimmer
Barbara Young
George Chong
Marc D Tischkowitz
William D Foulkes
Source
J Med Genet. 2015 Feb 17;
Date
Feb-17-2015
Language
English
Publication Type
Article
Abstract
Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2 displaying an attenuated phenotype identified by clinical genetic testing in seven Inuit families from Northern Quebec.
Pathogenic characteristics of the PMS2 mutation NM_000535.5:c.2002A>G were studied using genotype-phenotype correlation, single-molecule expression detection and single genome microsatellite instability analysis.
This PMS2 mutation generates a de novo splice site that competes with the authentic site. In homozygotes, expression of the full-length protein is reduced to a level barely detectable by conventional diagnostics. Median age at primary cancer diagnosis is 22 years among 13 NM_000535.5:c.2002A>G homozygotes, versus 8 years in individuals carrying bi-allelic truncating mutations. Residual expression of full-length PMS2 transcript was detected in normal tissues from homozygotes with cancers in their 20s.
Our genotype-phenotype study of c.2002A>G illustrates that an extremely low level of PMS2 expression likely delays cancer onset, a feature that could be exploited in cancer preventive intervention.
PubMed ID
25691505 View in PubMed
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