Thurtle Danielle P, Huck Michael B, Zeller Kristen A, Jewett Tamison
Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, NC, 27157, USA.
Lehigh Valley Health Network, 1200 S Cedar Crest Blvd, Allentown, PA, 18103, USA.
J Med Case Rep. 2018 Mar 4;12(1):56. doi: 10.1186/s13256-018-1600-8.
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.
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.
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.
13三体综合征是最常见的常染色体三体综合征之一，尽管其数量在增加，但存活至新生儿期后的患者仍然罕见。随着这些患者年龄的增长，其自然病史和预期并发症仍然未知。尽管这种疾病罕见，但几十年来医学文献中已有不寻常恶性肿瘤的报道。显然，医疗服务提供者应该怀疑这些患者存在不寻常的恶性肿瘤，尤其是随着他们年龄的增长。
我们报告一名患有13三体综合征的20岁白人女性，她因结肠扭转就诊，被发现患有结肠息肉病和结肠癌。病理标本的基因检测显示为47(XX)+13，无其他突变。鉴于潜在的腺瘤性息肉病，她因推测的患结直肠癌风险接受了预防性全结肠切除术。她恢复良好，无复发迹象。
该患者无家族病史或已知的息肉病综合征突变却存在结肠息肉病和结直肠癌，提示该13三体综合征患者本身易患结直肠癌。最近对结直肠癌致癌基因的研究支持，13号染色体上某些基因的非整倍体或拷贝数增加可能会增加恶性转化的风险。对于研究这些课题的研究人员以及照顾随着年龄增长的13三体综合征患者的临床医生而言，这是一个重要的关联。
