Cutaneous desmoid‐type fibromatosis: A rare case with molecular profiling

Fibromatoses encompass a broad group of histopathologically similar fibroblastic/myofibroblastic proliferations with divergent clinical manifestations and behavior. Deep (desmoid‐type) fibromatoses are typically large, rapidly growing, and locally aggressive tumors that occur in the abdominal wall,...

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Bibliographic Details
Published in:Journal of cutaneous pathology 2021-09, Vol.48 (9), p.1185-1188
Main Authors: Aghighi, Maryam, Cloutier, Jeffrey M., Hoover, William D., Roy, Katherine, Lo, Amy A., Brown, Ryanne A.
Format: Article
Language:English
Subjects:
Abdominal wall
Adenomatous polyposis coli
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - pathology
Adenomatous Polyposis Coli Protein
Aged
APC
beta Catenin - metabolism
beta‐catenin
Connective tissue diseases
CTNNB1
Dermis
Dermis - pathology
desmoid
Diagnosis, Differential
Familial adenomatous polyposis
fibromatosis
Fibromatosis, Aggressive - diagnosis
Fibromatosis, Aggressive - genetics
Fibromatosis, Aggressive - surgery
Gardner Syndrome - genetics
Gardner Syndrome - pathology
Humans
Male
Mesentery
Mutation
Treatment Outcome
Tumors
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Summary:Fibromatoses encompass a broad group of histopathologically similar fibroblastic/myofibroblastic proliferations with divergent clinical manifestations and behavior. Deep (desmoid‐type) fibromatoses are typically large, rapidly growing, and locally aggressive tumors that occur in the abdominal wall, mesentery, and extra‐abdominal soft tissue, principally the musculature of the trunk and extremities. Most sporadic cases of desmoid fibromatosis harbor inactivating mutations in CTNNB1, the gene encoding beta‐catenin. Tumors occurring in the context of familial adenomatous polyposis and Gardner syndrome bear inactivating mutations in APC. By contrast, mutations in CTNNB1 or APC have not been identified in cases of superficial fibromatosis. Cutaneous involvement by desmoid fibromatosis is exceedingly rare. Here we present a 78‐year‐old male with desmoid‐type fibromatosis arising in the dermis of the right medial calf with a pathogenic mutation in CTNNB1 and a variant of unknown significance in APC.
ISSN:0303-6987
1600-0560
DOI:10.1111/cup.14058