Molecular-genetic landscape of abdominal and retroperitoneal desmoid fibromatosis: a retrospective study

Background. Desmoid fibromatosis (DF) is a rare mesenchymal tumor with invasive growth, high relapse rate, and low incidence (24 cases per 1 million people year). Given the small number of patients DF and, as result, lack knowledge this disease, search for molecular predictors disease course individualization treatment prevention relevant.
 Aim. To study cells' genetic immunohistochemical profile determine their clinical significance in abdominal retroperitoneal DF.
 Materials methods. A comprehensive analysis laboratory data 31 DF, morphological samples was performed, including next-generation sequencing (NGS) using Onconetix oncology panel an antibodies to -catenin estrogen progesterone receptors.
 Results. NGS testing showed somatic mutations 28 (90%) samples. Somatic CTNNB1 gene were detected 26 (84%) samples: 21 (68%) had c.121AG (p.Thr41Ala, rs121913412), 3 (10%) c.134CT (p.Ser45Phe, rs121913409), (3%) patient c.133TC (p.Ser45Pro, rs121913407), c.122CT (p.Thr41Ile, rs121913413). Two (6%) APC gene: c.4381GT (p.Glu1461Ter, COSM30779) c.4634CA (p.Ser1545Ter, rs863225356). In (9%) patients, no studied genes. The expression cytoplasm nuclei cells 16 (51.6%) Nuclear receptors 6 (19%) (3.2%) samples, respectively. Of 10 established relapses, mutation rs121913412) 7; 2 samples.
 Conclusion. combination factors such presence gene, female gender, young age, can warrant assigning group unfavorable prognosis.