Desmoid Fibromatosis in Pediatric Patients: Management Based on a Retrospective Analysis of 59 Patients and a Review of the Literature

Abstract

Background. Only limited data are available concerning desmoid tumor in children. Methods. Fifty-nine children and adolescents with desmoid tumor treated in 2 French cancer centers with a very long followup were retrospectively reviewed. Results. Median age was 6 years (range, 0–15). Tumors mainly involved the limbs (42%). Five cases occurred in a context of genetic disorder. Surgery was first-line treatment in 80% of cases. Resection was microscopically complete in 3 patients (pts), with a microscopic residue in 19 pts and a macroscopic residue in 35 cases. Various adjuvant therapies were used. Overall response to all systemic therapies was 33%. Thirty-eight patients developed one or more recurrences or progressions. After a median followup of 8.5 years, 34 patients were alive in complete remission (CR), including 16 first CR. Seven patients died, 6 from refractory disease and 1 from colorectal carcinoma in a genetic context. Ten-year progression-free survival (PFS) and overall survival were 31% and 88%, respectively. In univariate analysis, age less than 10 years and head-neck site were favorable prognostic factors for PFS. Conclusions. When surgery is required, surgical margins must be negative. Low-dose chemotherapy can be proposed as adjuvant therapy. Prospective trials must be developed to evaluate long-term response and side effects.

Desmoid‐type fibromatosis of the head and neck region in the paediatric population: a clinicopathological and genetic study of seven cases

“…Therefore, surgery as the mainstay is under debate and a wait‐and‐see policy as initial strategy in a none‐life‐threatening site and in the absence of marked progression is being adopted. Furthermore, function‐sparing intervention should be preferred to aggressive surgery aiming at negative margins …”

“…Whether or not age has a prognostic impact is controversial . Two studies of the paediatric population showed that younger age (<10 years) was a favourable prognostic factor .…”

“…Although more frequent in (young) adults, it represents one of the more common fibrous tumours in children and adolescents . In this age group, the head and neck region is more often involved when compared to adults …”

“…1 In this age group, the head and neck region is more often involved when compared to adults. [1][2][3][4][5] Desmoplastic fibroma, supposed to be the morphological bone counterpart, also arise in the head and neck region of young patients, mainly within the mandible. [6][7][8] Activating CTNNB1 gene mutations (location 3p21) are found in approximately 85% of all sporadic desmoids, with p.T41A (threonine to alanine), p.S45F (serine to phenylalanine) and p.S45P (serine to proline) being the most frequent.…”

A Systematic Review of Active Treatment Options in Patients with Desmoid Tumours

“…In the twenty-four comparative studies, the patients in the control group were selected from the same hospital in which the study was performed. Four studies included patients with primary desmoid tumours 8,12,17,32 . Only one retrospective study compared the main clinical characteristics of the patients at baseline, showing no significant differences between the intervention groups 25 ; however, five studies conducted a multivariate analysis to control for potential confounders at baseline [9][10][11]17,22 .…”