皮脂腺癌是一种罕见但进行性恶性皮肤癌,移植后患者的发病率约为未接受肾脏移植的患者的五倍。皮脂腺癌有时与内脏癌和遗传异常同时发现。Muir-Torre综合征.我们报告了移植后10年患有皮脂腺癌并发结肠癌的女性肾移植受者的病例。
一名43岁的女性因头部肿瘤快速进展而入院。组织学上,肿瘤被诊断为皮脂腺癌。我们根据以下证据诊断她患有Muir-Torre综合征:1)基因位点测定中微卫星不稳定性的高患病率,2)在皮脂腺癌中缺乏错配修复蛋白的免疫组织化学分析,和3)通过DNA测序分析检测到的病变中MSH2外显子7中的1226_1227delAG的基因突变。一些报道显示免疫抑制剂与潜伏的Muir-Torre综合征进展之间存在关联。因此,在这种情况下,结肠癌的进展源于她的Muir-Torre综合征基因突变和长期使用免疫抑制剂。
本病例报告不仅强调了充分诊断和治疗Muir-Torre综合征的重要性,同时也提示进一步预防肾移植受者恶性肿瘤的发展。医生应注意,肾移植受者的皮脂腺癌与Muir-Torre综合征高度并发。
Sebaceous carcinoma is a rare but progressive malignant skin cancer, and the incidence is approximately five times higher in post-transplant patients than in people who have not received kidney transplants. Sebaceous carcinoma is sometimes found concurrently with visceral cancers and a genetic abnormality, Muir-Torre syndrome. We report the
case of a female kidney transplant recipient with sebaceous carcinoma concurrent with colon cancer 10 years after transplantation.
A 43-year-old woman was admitted due to a rapidly progressive tumor on her head. Histologically, the tumor was diagnosed as sebaceous carcinoma. We diagnosed her with Muir-Torre syndrome based on the following evidence: 1) high prevalence of microsatellite instability in gene locus assay, 2) absence of mismatch repair proteins in the sebaceous carcinoma on immunohistochemical analysis, and 3) a genetic mutation of 1226_1227delAG in the MSH2 exon 7 in the lesion detected by DNA sequencing analysis. Several
reports have shown an association between immunosuppressive agents and latent Muir-Torre syndrome progression. Therefore, the progression of colon cancer in this
case originated from her genetic mutation for Muir-Torre syndrome and long-term use of immunosuppressive agents.
This
case report not only highlights the importance of adequate diagnosis and therapy for Muir-Torre syndrome, but also suggests the further prevention of the development of malignant tumors in kidney transplant recipients. Physicians should be mindful that sebaceous carcinoma in kidney transplant recipients is highly concurrent with Muir-Torre syndrome.