Total: 3 |
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PMID (PMCID) | ||
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25324480 |
MALE | Adult |
A large deletion of chromosome 5q22.1-22.2 associated with sparse type of familial adenomatous polyposis: report of a case. | ||
Yamaguchi T, Koizumi K, Arai M, Tamura K, Iijima T, Horiguchi S, Miyaki M. Jpn J Clin Oncol. 2014;44(12):1243-7. |
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The proband was a 32-year-old man with sparse type of familial adenomatous polyposis with fundic gland and duodenal polyps and congenital hypertrophy of the retinal pigment epithelium without osteoma, dental abnormalities and desmoid tumors. | ||
23268029 |
MALE | Young Adult |
[Hepatocellular adenocarcinoma with fundic gland polyposis in adolescents associated with ileal J -pouch anal anastomosis for familial adenomatous polyposis]. | ||
Tomita R, Fujisaki S, Sakurai K, Park E, Shibata M. Gan To Kagaku Ryoho. 2012;39(12):2219-21. |
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Familial adenomatous polyposis(FAP) is characterized by colonic polyps that undergo malignant change, and benign and malignant extracolonic lesions such as upper gastrointestinal polyps, osteoma, desmoids tumor, and papillary cancer of thyroid. | ||
20063100 |
MIXED_SAMPLE | Adult |
[Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. | ||
Lanckohr C, Debiec-Rychter M, Muller O, Homann HH, Lehnhardt M, Herter P, Kuhnen C. Pathologe. 2010;31(2):97-105. |
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The case of a 13-year-old male patient with Gardner fibroma and osteoma and multicentric desmoid type fibromatosis in his mother is presented with detection of a (heterozygotic) germline mutation of the APC gene leading to a de novo stop codon (deletion of base pairs 5033-5036). |