Donati Michele, Paolino Giovanni, Muscardin Luca, Panetta Chiara, Donati Pietro
From the Dermatopathological Laboratory "San Gallicano Institute of Rome"; the Via Elio Chianesi, 53, 00158, Roma, Italy.
Exp Clin Transplant. 2017 Feb;15(1):100-102. doi: 10.6002/ect.2014.0208. Epub 2015 Apr 28.
Nonmelanoma skin cancers are the most common malignancies in transplant recipients under immunosuppression; nevertheless, appendage tumors also may appear. The onset of several cutaneous neoplasms in transplant patients can cause deterioration in quality of life of these patients. A 62-year-old white woman patient developed several malignant and benign sebaceous neoplasms during an immunosuppressive treatment for a renal transplant. The genetic study showed a mutation in MSH6-eson 1 (c116G>A), without mutations in MLH1 gene and MSH2. A final diagnosis of multiple sebaceous tumors in an immunosuppressed patient without Muir -Torre syndrome was made. The spreading of further cutaneous neoplasms led to a change in immunosuppression: namely, that clinicians suspended tacrolimus and add everolimus. After 2 months, all tumor lesions on the face and on the limbs have disappeared, and no further lesions occurred. Everolimus could represent a valid therapeutical treatment for transplant patients at high risk for cutaneous tumors. A genetic consult and a consequent study of the genetic profile should be performed on each of these patients, to avoid risks of recurrent cutaneous tumors and negative effects on the quality of life.
非黑色素瘤皮肤癌是免疫抑制状态下移植受者中最常见的恶性肿瘤；然而，附属器肿瘤也可能出现。移植患者中几种皮肤肿瘤的发生会导致这些患者生活质量下降。一名62岁的白人女性患者在肾移植免疫抑制治疗期间出现了几种恶性和良性皮脂腺肿瘤。基因研究显示MSH6外显子1（c116G>A）发生突变，MLH1基因和MSH2未发生突变。最终诊断为一名无穆尔-托雷综合征的免疫抑制患者患有多发性皮脂腺肿瘤。进一步皮肤肿瘤的扩散导致免疫抑制方案的改变：即临床医生停用他克莫司并加用依维莫司。2个月后，面部和四肢的所有肿瘤病变均消失，且未再出现病变。依维莫司可能是皮肤肿瘤高危移植患者的一种有效治疗方法。应对每例此类患者进行基因咨询并随后研究其基因谱，以避免皮肤肿瘤复发风险及对生活质量产生负面影响。
