Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an F.A.P. kindred: a need for increased vigilance and intervention in at-risk AYAs

Desmoid tumors are a manifestation of familial adenomatous polyposis (F.A.P.), associated with mutation of the APC gene. Although considered benign tumors, desmoids can be aggressive and cause considerable morbidity. Known risk factors for desmoid tumor growth include location of mutations within the APC gene, family history of desmoid tumors, previous surgery, female gender, and pregnancy. Desmoids occur at diverse sites, commonly within the abdomen or at sites of previous surgery; thoracic desmoids are relatively uncommon. Reported here is a highly desmoid tumor-prone FAP family with a truncating mutation in the APC gene at codon 1550 (c.4648G>T) in which female siblings developed remarkably similar thoracic desmoids with highly aggressive tumor behavior during the onset of puberty, throughout adolescence, and in one sibling during and following pregnancy. Both siblings had a fatal outcome. This case underscores the potential for aggressive behavior of desmoids during adolescence and the need for close vigilance during the adolescent and young adult (AYA) age range in desmoid-prone FAP kindreds.

A 42-year-old female patient with a history of cervicothoracic junction meningioma World Health Organization grade I, resected in early 2011, was admitted to the hospital with intractable headache and lower extremity weakness. Magnetic resonance imaging (MRI) showed an epidural mass compressing the spinal cord at the prior surgical site, which was interpreted as recurrent meningioma. Following surgical resection, histopathological analysis revealed desmoid fibromatosis (desmoid tumor). In retrospect, dynamic contrast-enhanced magnetic resonance imaging performed prior to surgery should have allowed for prospective exclusion of meningioma as the recurrent mass and suggested an alternative diagnosis such as post-traumatic desmoid fibromatosis or the need for biopsy to confirm diagnosis.

A 36-year-old man was admitted to hospital for a right thyroid nodule incidentally discovered on a chest computed tomography scan for a rib fracture. He had no history of radiation to the head and neck, no known family history of endocrine disease, and no medical or surgical history. A 17 × 10?mm, well-demarcated, multinodular, whitish nodule with neither necrosis nor hemorrhage was found in the right thyroid. Microscopically, the tumor consisted of epithelial cell nests with oval, plasmacytoid or polygonal cells with speckled chromatin, inconspicuous nucleoli and granular cytoplasm. The surrounding stroma showed amyloid deposition and prominent spindle cell proliferation with myxoid substance. Epithelial cell nests showed an immunoreactive pattern for typical medullary thyroid carcinoma (MTC), and the spindle cell stroma showed nuclear expression of beta-catenin. This may be the first report on histopathologic findings of MTC with desmoid-type fibromatosis. Further studies are necessary to discover the clinicopathologic characteristics and pathogenesis of this rare type of tumor.

This systematic review aims to evaluate the efficacy of low-dose chemotherapy with methotrexate and vinblastine for patients with extra-abdominal desmoid-type fibromatosis. We searched the pertinent literature from January 1990 to August 2017. The search yielded 40 studies, 9 of which were included after the first and second screenings. There were three prospective case series but no randomized controlled trials among the nine studies. There was no case-control report (vs. no treatment). According to Response Evaluation Criteria in Solid Tumors criteria, the mean response rate (complete remission or partial response) was 36% (11-57%). Including stable disease, namely, clinical benefit was consistently as high as 85% (69-100%). Mean adverse event rate of G3 or G4 according to CTCAE was 31%. One study reported improvement of pain (87.5%) because of this chemotherapy. The efficacy of this chemotherapy was convincing. However, the overall evidence was weak, and this chemotherapy is not covered by insurance in Japan; we only weakly recommend low-dose chemotherapy with methotrexate and vinblastine in patients with extra-abdominal desmoid-type fibromatosis.

Desmoid type fibromatosis of the breasts is a rare stromal tumour of the breast that constitutes less than 0.2% of all breast tumours. Bilateral and multi-centric lesions are extremely rare, with only less than 10 cases reported in literatures. Although benign, it is locally aggressive with recurrence in up to almost one-third of the cases. This case of bilateral multi-centric breast fibromatosis was the first case in our centre. 19-year old woman, with a paternal aunt diagnosed with breast cancer at 30-year-old, presented to our institution with the chief complaint of retracted nipples for 1 year, she denied any history of trauma to her chest. Sonography showed bilateral suspicious hypoechoic masses. MRI was performed for further evaluation due to its extensive involvement of both breasts. The aim of this review is to illustrate the main clinical, radiological and histopathological characteristics of this rare disease to increase awareness of this entity and discuss the role of MRI.

Aggressive fibromatosis (AF) is a rare soft tissue tumor derived from mesenchymal tissue characterized by invasion into the surrounding muscle and soft tissue growth without distant metastasis. Although AF originates from the mesentery, omentum, and pelvis and has been described, primary AF originating from the colon has rarely been reported. In this case, an 18-year-old male patient with sudden left lower abdominal pain for 10 hours with nausea and vomiting was admitted to the hospital for an emergency medical examination. Imaging revealed a mass located near his sigmoid colon that was considered interstitial or malignant. The patient underwent urgent exploratory surgery, and perforation of the tumor was found. Histopathological examination showed that the tumor was colonic AF. Considering the patientÂ’s medical history of acute abdomen pain, we assume this to be a rare case of colonic AF with perforation.