Kamil Zaid Saeed, Sachdeva Muskaan, Kwapis Jessica, Ghazarian Danny
Drs. Kamil and Ghazarian and Mr. Sachdeva are from the University of Toronto, Ontario, Canada. Drs. Kamil and Ghazarian are from the Department of Laboratory Medicine and Pathobiology. Drs. Kamil and Ghazarian also are from the Department of Laboratory Medicine and Pathobiology, University Health Network, Toronto. Dr. Kwapis is from Sensenbrenner Hospital, Kapuskasing, Ontario, and McMaster University, Hamilton, Ontario.
Cutis. 2021 Oct;108(4):E24-E28. doi: 10.12788/cutis.0393.
Pilomatrix carcinoma is a rare adnexal tumor with origin from the germinative matrical cells of the hair follicle. Clinically, it presents as a solitary lesion commonly found in the head and neck region and upper back. The tumors cannot be distinguished by their clinical appearance only and frequently are mistaken for cysts. Histopathologic examination provides the definitive diagnosis in most cases. Such carcinomas are aggressive neoplasms with a high probability of local recurrence and distant metastasis. Assessment of the Wnt signaling pathway components such as β-catenin, lymphoid enhancer-binding factor 1 (LEF-1) and caudal-related homeobox transcription factor 2 (CDX-2) potentially can be used for diagnostic purposes and targeted therapy. Herein, we report a rare and unique case of early pilomatrix carcinoma with intralesional melanocytes. We also review the molecular pathology and pathogenesis of these carcinomas as well as the significance of early diagnosis in their management.
毛母质癌是一种罕见的附属器肿瘤，起源于毛囊的生发基质细胞。临床上，它表现为单个病变，常见于头颈部和上背部。仅通过临床表现无法区分这些肿瘤，它们常被误诊为囊肿。大多数情况下，组织病理学检查可提供明确诊断。此类癌是侵袭性肿瘤，局部复发和远处转移的可能性很高。评估Wnt信号通路成分，如β-连环蛋白、淋巴细胞增强因子1（LEF-1）和尾相关同源框转录因子2（CDX-2），可能可用于诊断目的和靶向治疗。在此，我们报告一例罕见且独特的早期毛母质癌伴瘤内黑素细胞的病例。我们还回顾了这些癌的分子病理学和发病机制，以及早期诊断在其治疗中的意义。
