Pesce Florian, Devouassoux-Shisheboran Mojgan
Institut multisite des hospices civils de Lyon, centre hospitalier Lyon Sud, 165, chemin du Grand-Revoyet, 69495 Pierre Bénite cedex, France.
Institut multisite des hospices civils de Lyon, centre hospitalier Lyon Sud, 165, chemin du Grand-Revoyet, 69495 Pierre Bénite cedex, France.
Ann Pathol. 2020 Apr;40(2):85-94. doi: 10.1016/j.annpat.2020.02.015. Epub 2020 Mar 13.
About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch syndrome, responsible of epithelial tumors. However, the pathologist should be aware of rare hereditary syndromes responsible of non-epithelial ovarian tumors. Ovarian tumors associated with germline mutation of BRCA genes are essentially high-grade serous carcinomas of tubal origin, while those seen in Lynch syndrome are most often endometrioid or clear cell carcinomas. Sex-cord tumors associated with a familial predisposition are Sertoli-Leydig cell tumors in DICER syndrome and sex-cord tumors with annular tubules in Peutz-Jeghers syndrome. Small cell carcinoma of hypercalcemic type may be associated with a rhabdoid tumor predisposition syndrome 2. Finally, rare germ cell tumors have been reported related to ataxia telangiectasia. The recognition of these entities by pathologists is crucial. Even though the morphologic features pointing toward an inherited mutation may vary depending on the syndrome, the diagnosis may contribute to refer the patient for genetic counselling, modifying the management and follow-up of the patient and her family.
约23%的附件肿瘤与遗传综合征相关，最常见的是遗传性乳腺癌和卵巢癌综合征或林奇综合征，这些综合征是上皮性肿瘤的病因。然而，病理学家应了解导致非上皮性卵巢肿瘤的罕见遗传综合征。与BRCA基因种系突变相关的卵巢肿瘤主要是输卵管起源的高级别浆液性癌，而林奇综合征中所见的肿瘤最常见的是子宫内膜样癌或透明细胞癌。与家族易感性相关的性索肿瘤在DICER综合征中为支持-莱迪希细胞瘤，在黑斑息肉综合征中为伴有环状小管的性索肿瘤。高钙血症型小细胞癌可能与横纹肌瘤易感综合征2相关。最后，有报道称罕见的生殖细胞肿瘤与共济失调毛细血管扩张症有关。病理学家对这些实体的识别至关重要。尽管指向遗传突变的形态学特征可能因综合征而异，但该诊断有助于将患者转诊进行遗传咨询，从而改变患者及其家族的管理和随访方式。
