| Title: |
Atypical cellular neurothekeoma: a case report with a novel NF1 mutation |
| Authors: |
Valli de la Guardia, Edgardo Castro-Pérez, Ana I. Porcell, Sara González de Tena-Dávila, Marina Pacheco |
| Source: |
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-9 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Pathology |
| Subject Terms: |
Atypical cellular neurothekeoma, Whole exome sequencing, NF1, Pathology, RB1-214 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1746-1596 |
| Relation: |
https://doaj.org/toc/1746-1596 |
| DOI: |
10.1186/s13000-024-01578-y |
| Access URL: |
https://doaj.org/article/acd3fdd53a0c4437845cb632e0599b9c |
| Accession Number: |
edsdoj.3fdd53a0c4437845cb632e0599b9c |
| Database: |
Directory of Open Access Journals |
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