A potential conundrum in dermatopathology: molecularly confirmed superficial ossifying fibromyxoid tumors with unusual histomorphologic findings and a novel fusion

Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain histogenesis, primarily arising in subcutaneous tissues of the extremities, head and neck, or trunk. Most cases present as well-circumscribed masses with a characteristic morphologic appearance, comprising cytologically b...

Full description

Saved in:
Bibliographic Details
Published in:Virchows Archiv : an international journal of pathology 2024-12, Vol.485 (6), p.1063-1073
Main Authors: Syrnioti, Antonia, Chatzopoulos, Kyriakos, Kerr, Darcy A., Torrence, Dianne E., Hameed, Meera, Agaram, Narasimhan P., Antonescu, Cristina, Linos, Konstantinos
Format: Article
Language:English
Subjects:
Biomarkers, Tumor - analysis
Biomarkers, Tumor - genetics
Bone tumors
Cell differentiation
Cell fusion
Cell morphology
Diagnosis
Entrapment
Erythrocytes
Extravasation
Extremities
Fibroma, Ossifying - diagnosis
Fibroma, Ossifying - genetics
Fibroma, Ossifying - pathology
Gene fusion
Histogenesis
Humans
Medicine
Medicine & Public Health
Original Article
Pathology
Soft Tissue Neoplasms - genetics
Soft Tissue Neoplasms - pathology
Soft tissues
Stroma
Tumors
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain histogenesis, primarily arising in subcutaneous tissues of the extremities, head and neck, or trunk. Most cases present as well-circumscribed masses with a characteristic morphologic appearance, comprising cytologically bland ovoid cells with fibromyxoid stroma, a peripheral rim of metaplastic bone, and lobulated architecture. Nevertheless, tumors displaying unusual morphologic characteristics pose significant diagnostic challenges, requiring the detection of a pathogenic fusion for a definitive diagnosis. The majority of OFMTs exhibits PHF1 gene rearrangements. Herein, we present six cases of molecularly confirmed OFMTs with uncommon histomorphologic features, including the absence of myxoid stroma, extensive chondroid differentiation, prominent clear cell morphology, collagen entrapment, interdigitating fibrocollagenous and fibromyxoid stromal elements, and conspicuous red blood cell extravasation. One case harbored a novel fusion ( EPC1::SUZ12 ) . This study emphasizes the broad range of morphologic manifestations that can be encountered in OFMT and the crucial role of molecular testing in establishing a conclusive diagnosis in such cases.
ISSN:0945-6317
1432-2307
1432-2307
DOI:10.1007/s00428-024-03895-5