■一名55岁的男性患者在左腹股沟区出现肿块,并伴有左下肢肿胀,3个月前因疼痛未缓解而首次去当地医院就诊。MRI扫描提示左侧耻骨上支和左侧髋臼骨破坏,左髂骨前缘髂腰肌的软组织信号异常,左髂窝和左腹股沟区淋巴结肿大。患者随后接受了左盆腔病变开放活检和腹股沟淋巴结切除活检。根据病理报告,左侧腹股沟肿块被认为是皮肤附件起源的恶性肿瘤(毛发癌),伴有广泛的玻璃体改变。耻骨上支肿块被认为是骨转移的毛发肿瘤癌。免疫组织化学(IHC)显示PDL1组合阳性评分(CPS)为8。DNA下一代测序(NGS)显示CDKN2AL65Rfs*53突变。患者接受了三个周期的吉西他滨和奈达铂。然而,病变进展。
■化疗对治疗毛囊癌无效。PDL1抗体和CDK4/6抑制剂可能是治疗毛发上皮癌的选择。
UNASSIGNED: A 55-year-old male patient developed a mass in the left inguinal area with left lower limb swelling and first visited a local hospital 3 months earlier because of unrelieved pain. An MRI scan suggested left suprapubic branch and left acetabular bone destruction, abnormal soft tissue signals within the iliopsoas muscle of the anterior edge of the left iliac bone, and enlarged lymph nodes in the left iliac fossa and left inguinal region. The patient subsequently underwent left pelvic lesion open biopsy and inguinal lymph node resection biopsy. According to pathological reports, the left inguinal mass was considered to be a malignant tumor of cutaneous accessory origin (pilomatrix carcinoma) with extensive vitreous changes. The suprapupubis branch mass was considered to be a bone metastatic pilomatrix carcinoma. Immunohistochemistry (IHC) revealed a PDL1 combined positive score (CPS) of 8. DNA next-generation sequencing (NGS) showed CDKN2A L65Rfs*53 mutation. The patient received three cycles of gemcitabine and nedaplatin. However, the lesion progressed.
UNASSIGNED: Chemotherapy is not effective for treating pilomatrix carcinoma. PDL1 antibodies and CDK4/6 inhibitors might be treatment options for pilomatrix carcinoma.