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Desmoid‐type fibromatosis of the head and neck region in the paediatric population: a clinicopathological and genetic study of seven cases
Author(s) -
Flucke Uta,
Tops Bastiaan B J,
Diest Paul J,
Slootweg Pieter J
Publication year - 2014
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12323
Subject(s) - fibromatosis , medicine , lesion , head and neck , pathology , aggressive fibromatosis , soft tissue , fibroma , surgery
Aims Desmoid‐type fibromatosis (desmoid) is a locally aggressive (myo)fibroblastic lesion. It represents one of the more common fibrous tumours in children and adolescents. The head and neck region is more often involved than in adults. Methods and results We investigated the clinicopathological and genetic characteristics of seven paediatric desmoids at this anatomical site, including two cases of desmoplastic fibroma located in the mandible. There were two females and five males with an age range of 1.5–8 years. The sites of the soft tissue lesions were sinonasal ( n = 4) and paramandibular ( n = 1). All cases showed typical morphology and nuclear β‐catenin expression. CTNNB1 gene sequencing, performed successfully in five cases, revealed mutations in three cases with one p. T 41 A (bone lesion), one p.S37 A and one novel mutation, p. D 32 V (sinonasal soft tissue lesions). Six patients were treated by excision with positive margins in five cases. Follow‐up, available for six patients (median 4 years), showed no evidence of disease in four cases, slow progression in one case, and recurrence with stable disease in the last case. Conclusions Our study provides evidence of genetic similarities in desmoid and desmoplastic fibroma. Additionally, we expanded the spectrum of mutations in CTNNB1 with one novel desmoid mutation.