Satgé Daniel, Nishi Motoi, Sirvent Nicolas, Vekemans Michel, Chenard Marie-Pierre, Barnes Ann
Oncodéfi and University Institute for Clinical Research, Epidemiology and Biostatistics Department (EA 2415), Montpellier, France.
Department of Fundamental Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan.
Am J Med Genet A. 2017 Aug;173(8):2088-2096. doi: 10.1002/ajmg.a.38294. Epub 2017 May 25.
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome. These comprised eight embryonic tumors, three leukemias, two malignant germ cell tumors, two carcinomas, a malignant brain tumor, and a sarcoma. Benign tumors were mainly extragonadal teratomas. The small number of reported malignant tumors suggests that there is not an increased risk of cancer in the context of trisomy 13. The tumor profile in Patau syndrome differs from that observed in Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations. No general and direct relationships of tumor occurrence with organ weight, congenital malformations, histological changes, or presence of tumor suppressor genes on chromosome 13 were observed. However, some tumors were found in tissues whose growth and development are controlled by genes mapping to chromosome 13. Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau syndrome.
患有唐氏综合征和爱德华兹综合征等三体疾病的个体易患某些类型的恶性肿瘤。然而，对于帕陶综合征（13号染色体三体），其发病率为1/10000 - 1/20000活产儿，其肿瘤谱尚未得到充分描述。了解对恶性肿瘤的易感性可以改善对受影响个体的护理，并增进我们对三体在致癌过程中作用的理解。因此，我们对文献进行了广泛综述；我们发现有17种恶性肿瘤在帕陶综合征患者中被报道。这些包括8种胚胎性肿瘤、3种白血病、2种恶性生殖细胞肿瘤、2种癌、1种恶性脑肿瘤和1种肉瘤。良性肿瘤主要是性腺外畸胎瘤。报道的恶性肿瘤数量较少表明在13号染色体三体的情况下癌症风险并未增加。帕陶综合征的肿瘤谱与在爱德华兹综合征（18号染色体三体）和唐氏综合征（21号染色体三体）中观察到的不同，这表明额外的13号染色体可能像它导致特定畸形一样促进特定肿瘤的形成。未观察到肿瘤发生与器官重量、先天性畸形、组织学变化或13号染色体上肿瘤抑制基因的存在之间存在普遍且直接的关系。然而，在一些其生长和发育受定位于13号染色体的基因控制的组织中发现了一些肿瘤。近期关于手术治疗和适应性化疗取得成功结果的报道表明帕陶综合征患者的癌症是可以治疗的。
