Department of Plastic and Reconstructive Surgery, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.
Department of Pathology, Seoul National University Hospital, Seoul, Korea.
BMC Cancer. 2020 Jun 3;20(1):516. doi: 10.1186/s12885-020-07009-7.
Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis.
Data from patients diagnosed with TC within a 12-year period were retrospectively reviewed. Genomic DNA isolated from a formalin-fixed paraffin-embedded (FFPE) tumor tissue block was sequenced and explored for a panel of cancer genes.
DNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5 years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient. TP53 mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients (TACC3-FGFR3 and ROS1-GOPC fusions). Other mutations found included NF1-truncating mutation (Arg1362*), NRAS mutation (p.Gln61Lys), TOP1 amplification, and PTEN deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with TP53 mutations had aggressive clinical course, two who died (OS 93 and 36 months), and one who experienced recurrent relapse.
We reported the genomic variations found in TC, which may give insight into the molecular pathogenesis. Overall, genetic changes found in TC resembled that of other skin cancers, suggesting similar pathogenesis. TP53 mutations was were identified in patients who had an aggressive clinical course. Genetic alterations identified may further suggest the potential treatment options of TC.
毛母质瘤（TC）是一种极为罕见的毛囊肿瘤。我们旨在探讨 TC 中涉及的遗传异常，以深入了解其分子发病机制。
回顾性分析了 12 年内诊断为 TC 的患者数据。从福尔马林固定石蜡包埋（FFPE）肿瘤组织块中提取基因组 DNA，并对一组癌症基因进行测序和探索。
从 4 名（50%为女性；平均年龄 51.5 岁）诊断为 TC 的患者的 FFPE 组织中提取 DNA 进行分析。肿瘤位于 3 名患者的头颈部和 1 名患者的肩部。在 3 名患者中发现 TP53 突变（p.Arg213*、p.Arg249Trp 和 p.Arg248Gln）。在 2 名患者中检测到先前在黑色素瘤中发现的融合（TACC3-FGFR3 和 ROS1-GOPC 融合）。其他发现的突变包括 NF1 截断突变（Arg1362*）、NRAS 突变（p.Gln61Lys）、TOP1 扩增和 PTEN 缺失。总体而言，TC 中发现的遗传变化与其他皮肤癌相似，提示发病机制相似。所有携带 TP53 突变的患者均具有侵袭性临床病程，2 例死亡（OS 分别为 93 和 36 个月），1 例复发。
我们报告了 TC 中发现的基因组变异，这可能有助于深入了解其分子发病机制。总体而言，TC 中发现的遗传变化与其他皮肤癌相似，提示发病机制相似。在具有侵袭性临床病程的患者中鉴定出 TP53 突变。鉴定出的遗传改变可能进一步提示 TC 的潜在治疗选择。
