A case of intrathoracic desmoid tumor with pulmonary Mycobacterium abscessus disease

A 68-year-old man who was on treatment for pulmonary Mycobacterium avium complex complained a worsening of sputum. Although he archived negative sputum culture two months ago, sputum culture tests revealed the newly isolation of Mycobacterium abscessus repeatedly. Chest computed tomography showed newly-appeared extra-pulmonary mass lesion in contact with a cyst at the bottom of his right lung. From the results of contrast-enhanced magnetic resonance imaging, we first suspected loculated pleural effusion due to Mycobacterium abscessus infection. A thoracoscopic examination was performed as the right pneumothorax developed, and the pleural lesion was successfully resected and diagnosed as an intrathoracic desmoid tumor. Intrathoracic desmoid tumor is very rare, and this is the first report of a case with pulmonary Mycobacterium abscessus disease.

Desmoid tumors of the small bowel wall are rare tumors of the gastrointestinal tract. The signs and symptoms ranging from non-specific to severe abdominal pain to the sensation of a mass and abdominal fullness. We present the case of a 48-year-old man who presented 3 years post-one-anastomosis gastric bypass (mini-gastric bypass) with vague abdominal pain and early satiety of one-month duration. A CT scan of the abdomen revealed a well-defined compressive mass in the left hypochondrium. A laparoscopic exploration was performed, but it was converted into a laparotomy due to the huge size of the mass. The desmoid tumor at the gastrojejunal anastomosis was resected, followed by a Roux-en-Y reconstruction. The patient’s postoperative course was uneventful, and he was discharged on the seventh day post-operation. He did not show any signs or symptoms suggestive of complications or recurrence during his follow-up.

The management of desmoid-type fibromatosis has considerably evolved these last years, toward first-line active surveillance then systemic or local symptomatic treatment in case of aggressive tumor. Magnetic resonance imaging is the modality of choice in each of these treatment settings. It needs multiparametric approach taking into account mainly the tumor size, and T2-weighted signal that is correlated with histological composition and clinical behavior. A volumetric approach should be favored for the evaluation of tumor size change. The interest of paramagnetic contrast injection and tumor enhancement requires further investigation.

We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular genetics, indications for an active treatment, and available systemic therapeutic options. This paper follows a one-day consensus meeting held in Milan, Italy, in June 2018 under the auspices of the European Reference Network for rare solid adult cancers, EURACAN, the European Organisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) as well as Sarcoma Patients EuroNet (SPAEN) and The Desmoid tumour Research Foundation (DTRF). The meeting brought together over 50 adult and pediatric sarcoma experts from different disciplines, patients and patient advocates from Europe, North America and Japan.

Desmoid tumour (DT) is a locally aggressive fibroblastic proliferative disease representing the most common extraintestinal manifestation of familial adenomatosis polyposis (FAP). As data on the activity of chemotherapy in these patients are limited, we examined the outcomes of patients treated with low-dose methotrexate (MTX) +vinca alkaloids (vinorelbine or vinblastine). We retrospectively reviewed clinical and outcome data from all patients with confirmed FAP-associated DTs treated with weekly MTX+vinca alkaloids in seven European sarcoma reference centres between January 2000 and December 2018. We identified 37 patients (median age 29 years, range 7-44). According to RECIST, 20/37 (54.1%) patients achieved partial response (PR), 15/37 (40.5%) patients had stable disease and 2/37 (5.4%) had progressive disease as best response. Overall, the median progression-free survival (PFS) was 6.5 years (range, 0.3-12.1 years). In the subset of patients achieving PR as best response, the median PFS was not reached. In a subset of 11 patients with progressive disease offered MTX+vinca alkaloids rechallenge (after chemotherapy withdrawal following prolonged disease control), the disease control rate was 100%, resulting in a median PFS after rechallenge of 5.8 years.This is the largest series on the activity of low-dose chemotherapy in patients with FAP-related DT. In this population, MTX+vinca alkaloids is an active combination, as already reported in patients with sporadic DT.