Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent.

The surgical closure of secundum atrial septal defect (ASD) is frequently performed. The minimally invasive approach, currently adopted by many centers as a way to preserve aesthetic appearance, particularly in female patients, seems to be safe. We describe the case of an adolescent who developed a desmoid tumor soon after a minimally invasive operation for surgical closure of a secundum ASD.

Real-time polymerase chain reaction was performed on frozen specimens of desmoid fibromatosis (n=6) and normal skin (n=2). All 15 desmoid tumors were positive for β-catenin (surrogate marker of Wnt/β-catenin pathway dysregulation) which was negative in control normal skin and scar samples. TGF-β and CTGF were negative in 9 of 10 normal skin controls. TGF-β and CTGF were positive in all cases of scar tissue. All 15 cases of desmoid tumors were positive for TGF-β and CTGF. The real-time polymerase chain reaction showed higher expression levels of TGF-β and CTGF in desmoidfibromatosis compared with normal skin. The high constitutive expression of β-catenin downstream effectors; TGF-β, CTGF has the potential for enabling targeted therapy.

A 59-year-old female patient was admitted with the complaint of right breast pain and a palpable mass. The patient had undergone a modified radical mastectomy surgical procedure of the right breast due to invasive breast carcinoma 10 years before. As a result of the pathological examination of the mass, the diagnosis was determined as desmoid tumor. Due to the closeness of the tumor to the surgical margin, the patient was administered radiotherapy and maintenance imatinib treatment was started.

There have been only a few case reports of the coexistence of mesenteric fibromatosis and Crohn’s disease. We present, to our knowledge, the first paediatric case of the coexistence of both conditions. A 15 -year -old boy was operated on due to an obstruction of the gastrointestinal tract. Intraoperatively, a tumour and a significant length of infiltrated ileum were resected. Histopathological examination confirmed a desmoid tumour in the course of mesenteric fibromatosis and Crohn’s disease. The patient has been treated pharmacologically since. Further research is needed to explain their origin and simultaneous appearance in children.

The aim of the present study was to identify the prognostic factors for the propensity for recurrence in sporadic desmoid tumors. The catenin (cadherin-associated protein) β1 (CTNNB1) genotypes and expression of Wnt pathway proteins and midkine (also termed neurite growth-promoting factor 2) were investigated in 159 patients with sporadic desmoid tumors. The multivariate analysis of recurrence demonstrated that an extra-abdominal tumor site [hazard ratio (HR), 2.625; P=0.001] and midkine expression (HR, 2.077; P<0.009) were independent prognostic factors of tumor recurrence. In conclusion, the present results suggest that the tumor site and midkine expression may be predictive markers for the recurrence of sporadic desmoid tumors.

In mesenchymal neoplasia, the role of β-catenin has been traditionally considered limited to desmoid-type fibromatosis. However, the spectrum of β-catenin-driven (β-catenin-altered) neoplasia of mesenchymal origin has been steadily widening to include, in addition to desmoid tumors, a variety of benign and intermediate-biology neoplasms of soft tissue (intranodal palisaded myofibroblastoma), head and neck (juvenile nasopharyngeal angiofibroma and sinonasal hemangiopericytoma/glomangiopericytoma), and ovarian (microcystic stromal tumor) origin. This review addresses the most relevant pathobiological and differential diagnostic aspects of β-catenin-altered neoplasms with emphasis on site-specific histologic and biological variations.