Desmoid Fibromatosis (DES) in Childhood and Adolescence: An Analysis of 65 Patients in the First Two Decades of Life
CM Coffin, RL Randall, L Million, H Zhou. Vanderbilt University, Nashville, TN; University of Utah, Salt Lake City, UT
Background: DES is an intermediate soft tissue neoplasm that recurs, can be associated with APC mutation, and may be preceded by Gardner fibroma (GAF). We investigated clinicopathologic features, associated conditions, and outcome in young patients.
Design: 65 patients newborn to 20 years with DES were identified from surgical pathology and consultation files (7 reported previously, AJSP, 2007). Pathology materials and medical records were reviewed. Immunohistochemistry for beta-catenin was performed.
Results: 65 patients ranged from 2 months to 20 years at first diagnosis of DES; they had 74 separate DES, including 8 with multifocal DES, 13 with one or more GAF. There were 32 males and 33 females. At first diagnosis of DES, 3 (4%) were less than 1 year old, 22 (34%) were 1-9 years old, and 40 (62%) were 10-20 years old. Among the 74 DES, 36 (49%) arose on the trunk, 26 (35%) on the extremities, and 12 (16%) in the head and neck. Tumor diameter ranged from 2 to 25 cm. The circumscribed masses had a fleshy, whorled, white-tan cut surface. Sweeping fascicles of spindle cells displayed low to moderate cellularity, focal myxoid change, focal prominent collagen, a sparse mast cell infiltrate, and elongated, thin-walled perifascicular blood vessels. Nuclei had fine chromatin, without atypia or atypical mitoses. Variations included prominent stellate myofibroblasts, hypercellularity, peripheral lymphoid aggregates, and contiguous GAF. 87% had nuclear beta-catenin positivity. All were treated with surgery; 5 also had chemotherapy. Followup in 24 patients revealed 13 with local recurrences (rate 54%), 6 with known APC, 1 with previous colon polyp, 1 with tuberous sclerosis, 1 with previous liver transplant. None had died of DES at last followup.
Conclusions: This large series of DES in young patients confirms its occurrence throughout childhood and especially in adolescence, documents an association with GAF and APC, reveals a recurrence rate of 54%, and confirms a predilection for the extremities and trunk, including the abdomen, mesentery, and pelvis. Among the patients with recurrent DES, 62% had GAF and/or APC and/or colon polyps. These observations emphasize the risk of recurrence, multifocality, and potential for associated APC in young patients with DES. The frequency of APC in this series is very likely to be underestimated due to incomplete clinical information and family history. Children and adolescents with DES could benefit from clinical evaluation for potential APC.
Monday, March 22, 2010 1:00 PM
Poster Session II # 196, Monday Afternoon