Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases.
Mod Pathol
; 33(12): 2520-2533, 2020 12.
Article
in En
| MEDLINE
| ID: mdl-32514165
ABSTRACT
Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade soft tissue neoplasm preferentially arising in the extremities of young to middle-aged adults characterized histologically by a variegated appearance and absence of a distinctive immunophenotype. Herein we have evaluated a series of 73 cases of MIFS to define potential features and markers that may facilitate diagnosis. An immunohistochemical study with a large panel of antibodies showed strong positivity of the tumor cells for bcl-1 (94.5%), FXIIIa (89%), CD10 (80%), and D2-40 (56%). FISH and array comparative genomic hybridization (aCGH) were performed in a large subset of cases to investigate the utility for detecting the TGFBR3 and OGA t(1;10) rearrangement and BRAF abnormalities. Using a combination of FISH and/or aCGH, t(1;10) was detected in only 3 of 54 cases (5.5%). The aCGH study also demonstrated amplification of VGLL3 on chromosome 3 that was detected in 8 of 20 cases (40%). BRAF alterations were observed by FISH in 4 of 70 cases (5.7%) and correlated with gain of chromosome 3p12 (VGLL3). A novel fusion transcript involving exon 6 of ZNF335 and exon 10 of BRAF was identified in one case. Demonstration of amplification of VGLL3 on chromosome 3 in combination with expression of bcl-1 and FXIIIa may help support the diagnosis, however, due to their low specificity these markers are not sufficient for a definitive diagnosis in the absence of the appropriate clinical-pathological context. Until a more robust genetic or immunohistochemical signature is identified, the diagnosis of MIFS rests on its characteristic clinicopathological features.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Soft Tissue Neoplasms
/
Immunohistochemistry
/
Biomarkers, Tumor
/
Molecular Diagnostic Techniques
/
Fibroblasts
/
Fibrosarcoma
Type of study:
Clinical_trials
/
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
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Male
/
Middle aged
Country/Region as subject:
America do norte
/
Europa
Language:
En
Journal:
Mod Pathol
Journal subject:
PATOLOGIA
Year:
2020
Document type:
Article
Affiliation country:
United States