Primary Desmoid Tumor of the Small Bowel: A Case Report and Literature Review

We present one case of a 59-year-old man presenting with three months of abdominal distension secondary to a small bowel desmoid. Computed tomography of the abdomen showed an 18-cm mass in the mid-abdomen without obvious vital structure encasement. Percutaneous biopsy of the mass indicated a desmoid tumor. The patient underwent a successful elective exploratory laparotomy with resection and primary enteric anastomosis. Final pathology revealed the mass to be a primary desmoid of the small bowel. His post-operative course was uneventful. At two years after surgery, he is symptom free, and there is no evidence of disease recurrence. Due to the rare nature of primary small bowel desmoids, there are few specific care pathways outlined. This is a challenging pathology to treat that often requires a multidisciplinary team of surgical and medical oncologists.

Rupture of a superior mesenteric artery pseudoaneurysm is a rare but potentially lethal complication in patients with familial adenomatous polyposis and desmoid disease. This is a descriptive study of a small series of patients. Data were obtained from their medical charts and from the Cologene Database of the David G. Jagelman Polyposis Registry in the Sanford R. Weiss, M.D., Center for Hereditary Colorectal Cancer at the Cleveland Clinic Foundation. Of 227 patients with mesenteric desmoid disease, there were 4 cases of superior mesenteric artery pseudoaneurysm rupture. We reviewed the patients with mesenteric desmoid tumors in our desmoid registry. The patients were young (aged from 22 to 28 y at presentation), with otherwise minimal comorbidities. Two patients had a previous proctocolectomy and J-pouch, and 2 had a total colectomy and ileorectal anastomosis. Two patients had preemptive endoluminal stenting and fared better than the 2 who had damage control embolization. One patient died and, in the others, recovery was prolonged and complicated. Two of the 4 patients have ended up with a reasonable quality of life. We acknowledge that this is a rare complication of an uncommon disease and, as such, any case series will be limited by small numbers; therefore, a tailored approach is warranted when managing such complex patients. We advocate an increased awareness of the possibility of visceral pseudoaneurysms in patients with familial adenomatous polyposis who have desmoid disease encasing the superior mesenteric artery.

We here report the case of a 63-year-old woman who underwent a tumorectomy for left breast cancer and developed six years later a large desmoid tumor in the same breast. First medically treated with selective estrogen receptor modulators and non-steroidal anti-inflammatory drugs, it progressed to an ulcerative exophytic and necrotic tumor requiring surgery. To our knowledge, this is the first description of such a spectacular evolution in the literature. After reporting on this uncommon evolution of a rare disease, we will provide a short review of current treatment options.

The aim of this study was to reveal the clinical outcome of low-dose chemotherapy with methotrexate (MTX) + vinblastine (VBL), and determine the useful factors to predict the efficacy including CTNNB1 mutation status. Since 2003, 167 cases were histologically diagnosed as DF. Among them, 36 cases were treated with MTX (30mg/M2) +VBL (6mg/M2) chemotherapy. Treatment interval was basically 2 weeks according to our previous study. Effectiveness was evaluated with MRI and/or CT every 3 months according to Response Evaluation Criteria in Solid Tumors (RECIST). Frozen or FFPE (Formalin-Fixed Paraffin-Embedded) specimens obtained at biopsy or previous surgery were subjected to the analyses for CTNNB1 mutation status by Sanger method. Clinical outcome and factors correlating with the efficacy were analyzed. Among 36 cases with this chemotherapy, male was 13, mean age at the treatment was 36±18 years. Mean maximum diameter of tumor was 15±18 cm. Twenty-nine cases (81%) harbored CTNNB1 or APC mutation. Mean treatment duration and cycles of MTX+VBL were 20 months and 29 cycles, respectively. According to RECIST, PD in 2, PR 1n 15, and SD in 19. According to CTCAE, Grade 3 or more adverse events were observed in only one case. CTNNB1 mutation status, gender, age, size, and location did not affect the outcome of RECIST. Longer treatment duration and cycles of chemotherapy were significantly associated with the outcome (P = 0.002 and 0.004, respectively). In 15 cases of PR, recurrent tumors significantly took longer time to get efficacy (P = 0.027), and tumors arising in trunk and extremities tended to take longer time (P = 0.1). Low-dose MTX+VBL chemotherapy is effective and feasible treatment for refractory DF regardless of CTNNB1 mutation status. Occasionally it takes time to obtain objective response.

The incidence of DT is steadily increasing in pts affected by familial adenomatous polyposis (FAP) and represents the first cause of death for pts who underwent preventive proctocolectomy. Currently, there is no standard therapy for DT and Tamoxifen (20 mg once daily) + Meloxicam (15 mg once daily) (TM) is the most commonly used regimen in clinical routine. We sought to evaluate the efficacy of Su, the most active PDGFR TKI, as first-line therapy for pts with DT. In this phase II IRB approved prospective study, pts with progressive, symptomatic, or recurrent DT were randomized to receive either Su (52 mg once daily) or TM. The primary end point was progression-free survival, defined as time from treatment start to clinical or radiological progression, whichever came first, at 2 years (2yr-PFS). Of the 32 pts enrolled, 22 received Su and 10 TM. In both groups, median age at diagnosis was 43.5 years. No OR was observed in the TM group. In the Su group, 17 pts had a partial response and 5 stable disease and the ORR was 75% (95% CI, 50 to 100). At a median follow-up of 27 months, the 2yr-PFS was 81% (95% CI, 69-96) and 36% (95% CI, 22-57) in the Su cohort and TM cohort, respectively (HR = 0.13; 95% CI, 0.05- 0.31; P<0.001). The median ttOR among pts who had an OR was 24 months. In the TM group, no toxicity was observed. The most frequently reported AE in the Su group were grade 1 or 2 hypothyroidism (73%), fatigue (67%), hypertension (55%), and diarrhea (51%). (HR: 0.260; p = 0.0035). All AE responded to dose reduction (37.5 mg). In a cohort of pts with progressive, recurrent, or symptomatic DT, Su seems to be well tolerated and improve 2yr-PFS and OR rate compared with TM therapy. Further prospective studies with larger samples are needed to verify these results.

The purpose of this study to investigate the expression of PD-L1 and its clinic-pathological feature in soft tissue sarcomas (STS). We collected Paraffin embedded tissue of 50 Patients with STS retrospectively from the archives of Pathology and Oncology Department, Ain Shams University Hospitals from 2011-2017, then we correlated between PD-L1 expression and the clinico-pathological features. PD-L1 expression was found in 12 (24%) of cases. Of all sarcoma subtypes, desmoid tumors had the highest prevalence of PD-L1 expression noted in 2/3 (66%) of samples followed by GIST 2/4(50%), then liposarcoma 3/11(27%). We found that STS patients with PD-L1 expression have shorter survival with a median OS 11 vs 19 months (p-value = 0.1) as well as a mean PFS 6 vs 11 months (p-value = 0.1) in PD-L1 positive and negative respectively; this finding considered as clinically significant, but not reached to statistical significant. We report here that PD-L1 expression is as prognostic factor for poorer outcome. This finding may be clinically significant but does not reach the statistically significant levels due to small number of samples included. Its role beyond that of a prognostic biomarker remains to be established in the context of larger clinical trials.