scholarly journals Colonic Adenocarcinoma at Advanced Stage in Adolescence: Report of 2 Cases

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Divya S. Vundamati ◽  
Xiuxu Chen ◽  
Vivekanand Singh
Keyword(s):  
Mismatch Repair ◽  
Pediatric Patients ◽  
Familial Polyposis ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Advanced Stage ◽  
Repair Gene ◽  
Polyposis Syndromes ◽  
Carcinoma Of Colon ◽  
Work Up

Background. Carcinoma of colon is rare in children and adolescents. The staging criteria of the carcinoma is the same as those for adults. However, the pathogenetic background in pediatric cases is different from adults and usually involves mismatch repair gene mutations or familial polyposis syndromes. Case report. We describe two adolescents diagnosed with advanced stage colon carcinoma and discuss the histological appearance, testing for mismatch repair genes and contrast- it with carcinoma occurring in the setting of familial polyposis syndrome. Conclusion. Colonic carcinoma occurring in pediatric patients should prompt a work-up for mismatch repair gene mutation status. Despite higher stage of presentation, some of the pediatric patients may respond favorably to chemotherapy and surgical resection.

scholarly journals Mismatch Repair Gene Mutations in Renal Cell Carcinoma

2002 ◽  
Vol 1 (5) ◽  
pp. 530-536 ◽  
Author(s):  
Fredrick S. Leach ◽  
Moon S. Koh ◽  
Kirti Sharma ◽  
Glenn McWilliams ◽  
LaTonia Talifero-Smith ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Renal Cell ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome

2017 ◽  
Vol 212-213 ◽  
pp. 1-7 ◽  
Author(s):  
Annette Y. Sunga ◽  
Charité Ricker ◽  
Carin R. Espenschied ◽  
Danielle Castillo ◽  
Marilena Melas ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Clinical Presentation ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred

2011 ◽  
Vol 59 (4) ◽  
pp. 652-656 ◽  
Author(s):  
Carol A. Durno ◽  
Melyssa Aronson ◽  
Uri Tabori ◽  
David Malkin ◽  
Steven Gallinger ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

Genetic profiles of hereditary nonpolyposis colorectal cancer.

2011 ◽  
Vol 29 (4_suppl) ◽  
pp. 469-469
Author(s):  
C. Therklidsen ◽  
G. Jonsson ◽  
I. Bernstein ◽  
M. Nilbert
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Gene Mutations ◽  
Comparative Genomic ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Gains And Losses ◽  
Mismatch Repair Gene Mutations

469 Background: With the aim to identify genetic markers of hereditary nonpolyposis colorectal cancer (HNPCC), we applied tiling BAC array-based comparative genomic hybridization (aCGH) to 46 HNPCC-associated colorectal cancer. Methods: 32 k iling BAC arrays were used to generate high-density genomic profiles. Tumors were selected through a case-control design with half of the tumors derived from individuals with disease-predisposing mismatch repair gene mutations and the reminder from phenotypic HNPCC families without identified mutations. In addition, an equal number of sporadic tumors were used for comparison. Results: Tumors with disease-predisposing germline mutations showed frequent gains of chromosomes 1p (39%), 17 (43%), 19 (57%) and 22q (30%). HNPCC associated tumors without mutations did as a group have more complex alterations with the most frequent changes being gains of 20q (70%), 19 (35%), 17 (26%) and loss of 18 (39%). Gains of 1p and 20q and loss of chromosome 18 were identified as significant discriminators between HNPCC tumors with/without germline MMR gene mutations. Conclusions: The aCGH profiles of HNPCC-associated colorectal cancer suggest that specific gains and losses may be used to distinguish between tumors with/without germline mismatch repair gene mutations. No significant financial relationships to disclose.

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