Angiomyolipomatous Lesions of the Nasal Cavity (Sinonasal Angioleiomyoma with Adipocytic Differentiation): A Multi-Institutional Immunohistochemical and Molecular Study.

Autor:	Jones VM; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Thompson LDR; Head and Neck Pathology Consultations, Woodland Hills, CA, USA., Pettus JR; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Green DC; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA., Lefferts JA; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Shah PS; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Tsongalis GJ; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Sajed DP; Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Guilmette JM; Department of Pathology, Hôpital Charles-Lemoyne, Faculty of Medicine and Health Sciences, University of Sherbrooke, Greenfield Park, QC, Canada., Lewis JS Jr; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ, USA., Fisch AS; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Tafe LJ; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Kerr DA; Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA. Darcy.A.Kerr@hitchcock.org.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA. Darcy.A.Kerr@hitchcock.org.
Jazyk:	angličtina
Zdroj:	Head and neck pathology [Head Neck Pathol] 2024 Oct 14; Vol. 18 (1), pp. 93. Date of Electronic Publication: 2024 Oct 14.
DOI:	10.1007/s12105-024-01700-y
Abstrakt:	Purpose: Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored. Methods: We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing. Results: Fifteen lesions (3-42 mm) were identified, predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88-12.4). Morphologically, 11 AML contained 30-80% smooth muscle, 10-25% vasculature, and 2-60% adipose tissue, while four AL contained 70-80% smooth muscle and 20-30% vasculature. Other histologic observations included ulceration, thrombosis, inflammation, myxoid change, senescent nuclei, and extramedullary hematopoiesis; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin, desmin, and/or caldesmon) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2. Conclusion: Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AML. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components. (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze:	MEDLINE
Externí odkaz:	Full text from SpringerLink