Skin adnexal carcinoma with BRD3-NUTM2B fusion Journal Article
| Authors: | Rubio Gonzalez, B.; Ortiz, M. V.; Ross, D. S.; Busam, K. J. |
| Article Title: | Skin adnexal carcinoma with BRD3-NUTM2B fusion |
| Abstract: | NUT carcinomas are genetically defined epithelial neoplasms. Most tumors harbor fusions of NUTM1 with BRD4 or BRD3. Their histopathologic features have been predominantly reported as undifferentiated or poorly differentiated squamous cell carcinoma, and clinically they tend to be aggressive cancers. However, recent studies have revealed a broader spectrum of NUTM1-rearranged neoplasms with several new fusion partners and associated variable histopathologic phenotypes and clinical behaviors, including benign and malignant cutaneous poroid tumors. We report herein a primary invasive carcinoma of skin adnexal origin with a previously undescribed fusion between BRD3 and NUTM2B. The tumor occurred on the shoulder of a 7-year-old girl and was excised with negative margins. A sentinel lymph node was positive. After follow-up of 23 months, and without systemic treatment, the child remains free of tumor. This case expands the spectrum of NUT carcinomas by including a skin adnexal variant with follicular infundibular differentiation, a novel genomic aberration, and preliminary evidence of a less aggressive clinical course. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Keywords: | gene fusion; carcinoma; nut; adnexal; brd3 |
| Journal Title: | Journal of Cutaneous Pathology |
| Volume: | 48 |
| Issue: | 12 |
| ISSN: | 0303-6987 |
| Publisher: | John Wiley & Sons |
| Date Published: | 2021-12-01 |
| Start Page: | 1508 |
| End Page: | 1513 |
| Language: | English |
| DOI: | 10.1111/cup.14107 |
| PROVIDER: | scopus |
| PUBMED: | 34296453 |
| PMCID: | PMC10392614 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 December 2021 -- Source: Scopus |
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