Atypical cellular neurothekeoma: a case report with a novel NF1 mutation

• Main Authors: Valli de la Guardia (Author), Edgardo Castro-Pérez (Author), Ana I. Porcell (Author), Sara González de Tena-Dávila (Author), Marina Pacheco (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s13000-024-01578-y; 1746-1596
• Keywords: Atypical cellular neurothekeoma; Whole exome sequencing; NF1; Pathology; RB1-214
• Source: Diagnostic Pathology, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Atypical cellular neurothekeoma is a rare benign soft-tissue tumour that usually arises in the head and neck region, shoulder girdles, and proximal extremities, predominantly in young women. This dermal neoplasm is under-reported in the literature and is not uncommonly misdiagnosed as a malignant tumour due to its worrisome histologic characteristics. Currently, the diagnosis of cellular neurothekeoma relies on a panel of non-specific immunohistochemical markers and its etiopathogenesis is unknown. Herein, we present the case of an atypical cellular neurothekeoma in the arm of a 49-year-old woman, describing its microscopic features and immunohistochemical profile. Additionally, we present a novel heterozygous predicted inactivating NF1 mutation, not previously reported, which was identified using high-throughput molecular techniques. Such finding might provide insights into the pathogenesis of neurothekeoma, potentially contributing to future refinements in diagnosis, which would enable more precise identification of this neoplasm.