Journal article
Myxofibrosarcoma with epithelioid morphology: A clinicopathological study of 44 cases with emphasis on differential diagnosis
Histopathology, Vol.86(5), pp.694-703
04/2025
DOI: 10.1111/his.15373
PMID: 39610041
Abstract
Epithelioid myxofibrosarcoma (eMFS) is an aggressive morphological variant associated with high rates of local recurrence and metastatic disease. The clinicopathological understanding of this disease is currently limited to a few small case-series.
We reviewed 44 cases of eMFS and classified them based on the presence of focal (< 50%) or diffuse (> 50%) epithelioid morphology and Fédération Nationale des Centres de Lutte Contre le Cancer (FNCLCC) grade. The patients (28 males; 16 females) had a median age of 71 years (range = 14-90 years). The proximal extremity was the most common site (n = 21), followed by the trunk (n = 11), distal extremity (n = nine) and head/neck (n = two). Of cases with known depth of involvement (n = 41), 39 involved the subcutis, one was limited to the dermis and one limited to the skeletal muscle. Most cases (n = 34, 77%) demonstrated diffuse (> 50%) epithelioid morphology and were FNCLCC grade 3 (n = 29, 66%). Follow-up data were available for 22 patients. Two developed local recurrence and 10 developed metastases, frequently to regional lymph nodes. All metastatic tumours had a primary lesion with diffuse epithelioid morphology (P = 0.09). There was no association between grade and recurrent or metastatic disease (P = 0.67 and 0.90, respectively). Three cases initially diagnosed as eMFS, one in the neck and two in the axilla, were found to have NRAS Q61R mutations and a high tumour mutation burden and/or ultraviolet (UV)-light DNA mutational signature.
These findings suggest that UV-driven malignancies (including melanoma or sarcomatoid squamous cell carcinoma) may histologically mimic eMFS and should be considered in cases of eMFS presenting at atypical anatomical sites.
Details
- Title: Subtitle
- Myxofibrosarcoma with epithelioid morphology: A clinicopathological study of 44 cases with emphasis on differential diagnosis
- Creators
- Alexandra L Isaacson - Cleveland ClinicRyan S Berry - Cleveland ClinicVeronica Ulici - Cleveland ClinicSusan M Armstrong - Cleveland ClinicJames Bena - Cleveland ClinicIvy John - University of Pittsburgh Medical CenterArivarasan Karunamurthy - University of Pittsburgh Medical CenterSteven D Billings - Cleveland ClinicJosephine K Dermawan - Cleveland ClinicJohn Goldblum - Cleveland ClinicScott E Kilpatrick - Cleveland ClinicBrian P Rubin - Cleveland ClinicKaren J Fritchie - Cleveland Clinic
- Resource Type
- Journal article
- Publication Details
- Histopathology, Vol.86(5), pp.694-703
- Publisher
- WILEY
- DOI
- 10.1111/his.15373
- PMID
- 39610041
- ISSN
- 1365-2559
- eISSN
- 1365-2559
- Language
- English
- Electronic publication date
- 11/28/2024
- Date published
- 04/2025
- Academic Unit
- Pathology
- Record Identifier
- 9984752746102771
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