Malignant female genital tract smooth muscle tumors with adipocytic differentiation: A morphologic, immunohistochemical, MDM2 fluorescence in situ hybridization and molecular genetic study of 6 lipoleiomyosarcomas.

Autor: Swanson AA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Michal M; Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic; Bioptical Laboratory, Ltd., Pilsen, Czech Republic., Xing D; Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA., Dashti NK; Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA., Židlík V; Department of Pathology, University of Ostrava, Faculty of Medicine, Ostrava, Czech Republic., Cheek-Norgan EH; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Keeney ME; Department of Pathology, Northwestern Medicine Central DuPage Hospital, Winfield, Il, USA., Keeney GL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Sukov WR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Gupta S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nucci MR; Department of Pathology, Division of Women's and Perinatal Pathology, Brigham and Women's Hospital, Boston, MA, USA., Schoolmeester JK; Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: schoolmeester.j@mayo.edu.
Jazyk: angličtina
Zdroj: Human pathology [Hum Pathol] 2024 Jan; Vol. 143, pp. 24-32. Date of Electronic Publication: 2023 Nov 23.
DOI: 10.1016/j.humpath.2023.11.008
Abstrakt: Leiomyosarcoma with adipocytic differentiation or lipoleiomyosarcoma is an uncommon sarcoma of the female genital tract with only a few individual reports in the literature. We therefore performed a morphologic, immunohistochemical, MDM2 gene amplification and RNA and DNA sequencing analysis of a series of gynecologic lipoleiomyosarcoma to better define the clinicopathologic spectrum. Six tumors from 6 patients were identified and classified as spindled lipoleiomyosarcoma (n = 2), mixed spindled and myxoid lipoleiomyosarcoma (n = 1), epithelioid lipoleiomyosarcoma with focal myxoid features (n = 1) and mixed spindled and epithelioid lipoleiomyosarcoma (n = 2). Patient age ranged from 41 to 64 years (mean: 49; median: 50). Primary location included uterine corpus (3), uterine corpus/cervix (2) and broad ligament (1). Tumor size ranged from 4.5 to 22 cm (mean: 11.2; median: 9.8). Four patients had metastasis at presentation or subsequently developed recurrent or distant disease. Patient status was known for 5: 2 dead of disease, 2 alive with disease and 1 alive without evidence of disease. Immunohistochemical expression of smooth muscle markers, ER, PR and WT-1 showed patterns similar to non-adipocytic gynecologic leiomyosarcomas. MDM2 amplification fluorescence in situ hybridization performed on 2 tumors was negative in 1 and equivocal in 1. Sequencing studies performed on 3 tumors found TP53 mutations in 3, with 1 tumor also having an ATRX alteration. No gene fusions were identified. Although lipoleiomyosarcomas have a diverse morphologic spectrum, our findings suggest the smooth muscle component shares morphologic and immunohistochemical features with female genital tract non-adipocytic leiomyosarcomas. Lipoleiomyosarcomas also have genetic alterations associated with non-adipocytic gynecologic leiomyosarcomas.
(Copyright © 2023 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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