Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: A case report

被引：1
作者：
Thurtle D.P. [1 ]
Huck M.B. [2 ]
Zeller K.A. [1 ]
Jewett T. [1 ]
机构：
[1] Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, 27157, NC
[2] Lehigh Valley Health Network, 1200 S Cedar Crest Blvd, Allentown, 18103, PA
来源：
Journal of Medical Case Reports | / 12卷 / 1期
关键词：
Adenocarcinoma; Colorectal Cancer; Patau syndrome; Polyposis; Trisomy; 13;
D O I：
10.1186/s13256-018-1600-8
中图分类号：
学科分类号：
摘要：
Background: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. Case presentation: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon. Genetics of pathology specimens revealed 47(XX) + 13 without other mutations. She underwent prophylactic completion colectomy due to presumed risk of colorectal cancers given underlying adenomatous polyposis. She has recovered well without evidence of recurrence. Conclusions: The presence of colonic polyposis and colorectal cancer without family history or known mutations for polyposis syndrome suggests an intrinsic predisposition toward colorectal cancer in this patient with Trisomy 13. Recent research into colorectal cancer oncogenes supports that aneuploidy or increased copy number of certain genes on chromosome 13 may increase the risk of malignant transformation. This is an important correlation for researchers studying these topics and clinicians caring for patients with Trisomy 13 as they age. © 2018 The Author(s).
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  • [11] Dohner H., Arthur D.C., Ball E.D., Sobol R.E., Davey F.R., Lawrence D., Et al., Trisomy 13: A new recurring chromosome abnormality in acute leukemia, Blood, 76, pp. 1614-1621, (1990)
  • [12] Herold T., Metzeler K.H., Vosberg S., Hartmann L., Rollig C., Stolzel F., Et al., Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis, Blood, 124, pp. 1304-1311, (2014)
  • [13] Longy M., Saura R., Dumas F., Leseve J.-F., Taine L., Goussot J.-F., Et al., Chromosome analysis of adenomatous polyps of the colon, Cancer Genet Cytogenet, 67, pp. 7-13, (1993)
  • [14] Longy M., Saura R., Schouler L., Mauhin C., Goussot J.-F., Grison O., Et al., Chromosomal analysis of colonic adenomatous polyps, Cancer Genet Cytogenet, 49, pp. 249-257, (1990)
  • [15] Griffin C.A., Lazar S., Hamilton S.R., Giardiello F.M., Long P., Krush A.J., Et al., Cytogenetic analysis of intestinal polyps in polyposis syndromes: Comparison with sporadic colorectal adenomas, Cancer Genet Cytogenet, 67, pp. 14-20, (1993)
  • [16] Sun Y., Shi N., Lu H., Zhang J., Ma Y., Qiao Y., Et al., ABCC4 copy number variation is associated with susceptibility to esophageal squamous cell carcinoma, Carcinogenesis, 35, pp. 1941-1950, (2014)
  • [17] Firestein R., Bass A.J., Kim S.Y., Dunn I.F., Silver S.J., Guney I., Et al., CDK8 is a colorectal cancer oncogene that regulates beta-catenin activity, Nature, 455, pp. 547-551, (2008)
  • [18] He S.-B., Yuan Y., Wang L., Yu M.-J., Zhu Y.-B., Zhu X.-G., Effects of cyclin-dependent kinase 8 specific siRNA on the proliferation and apoptosis of colon cancer cells, J Exp Clin Cancer Res, 30, (2011)
  • [19] Seo J.-O., Han S.I., Lim S.-C., Role of CDK8 and beta-catenin in colorectal adenocarcinoma, Oncol Rep, 24, pp. 285-291, (2010)
  • [20] Online Mendelian Inheritance in Man
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