Ancillary immunohistochemical and molecular testing in the classification of cutaneous sweat gland/duct neoplasms: A validation study with emphasis on histomorphologic correlation and pathological diagnosis.

Autor: Nguyen AJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Johnson E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Camilleri M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Wieland C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Lehman JS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Agrawal S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Comfere N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Department of Dermatology, Mayo Clinic, Rochester, MN, 55905, USA., Fadra N; Division of Computational Biology, Mayo Clinic, Rochester, MN, 55905, USA., Knudson RA; Cytogenetics Core Laboratory, Mayo Clinic, Rochester, MN, 55905, USA., Greipp P; Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Halling K; Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Ray Guo R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL, 32224, USA. Electronic address: Guo.Ruifeng@mayo.edu.
Jazyk: angličtina
Zdroj: Human pathology [Hum Pathol] 2024 Aug; Vol. 150, pp. 1-8. Date of Electronic Publication: 2024 Jun 12.
DOI: 10.1016/j.humpath.2024.06.006
Abstrakt: Sweat gland neoplasms represent a challenging area of dermatopathology, as they are relatively uncommon and often histopathologically complex. Recent studies have uncovered distinct immunohistochemical and molecular profiles in several sweat gland neoplasms, including digital papillary adenocarcinoma (DPA), papillary eccrine adenoma/tubular apocrine adenoma (PEA/TAA), poroid family tumors (PFT)/porocarcinoma, and clear cell hidradenoma (CCH)/clear cell hidradenocarcinoma (CCHCa). To further evaluate the diagnostic utility of ancillary studies in various sweat gland neoplasms, we performed an independent validation study in a cohort of patients with acral and non-acral tumors (9 DPA, 8 PEA/TAA, 13 PFT, 5 porocarcinoma, 23 CCH, 7 CCHCa, 6 sweat gland carcinoma not otherwise specified). p63 immunohistochemistry (IHC) demonstrated a myoepithelial pattern in 8/8 DPA and 4 of 4 tested PEA/TAA cases, and showed a ductal pattern in all tested PFT/porocarcinoma and CCH/CCHCa cases (42/42). All PEA/TAA (8/8) cases were positive for BRAF V600E IHC. 5 of 12 tested PFT and 5/5 porocarcinoma cases showed either positive staining with NUT IHC or harbored YAP1::NUTM1 fusion gene by RNA sequencing. MAML2 fluorescence in situ hybridization (FISH) was positive in all CCH and CCHCa cases (23/23 and 7/7, respectively). Our results further support the usefulness of appropriate ancillary studies in precise classification of sweat gland tumors, which may be routinely applied in diagnostic pathology practice when morphologic evaluation is in doubt.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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