A large undifferentiated sarcoma of the liver in a 13-year-old girl treated with anatomical resection: a case report and review of the literature

Background Undifferentiated embryonal sarcoma of the liver (UESL) is a rare liver tumor accounting for 6–13% of primary liver tumors. Accurate preoperative diagnosis is difficult, with a rather high misdiagnosis rate. Herein, we reported a very large UESL treated with anatomical resection. Our case is amongst the largest pediatric UESLs in the literature. Case presentation Herein, we report a 13-year-old girl presenting with right upper quadrant abdominal pain, postprandial vomiting, and abdominal distention, in which radiographic imaging demonstrated a huge UESL (28 × 20 × 12 cm). The patient was treated with partial hepatectomy and the 5 kg tumor was removed. The patient was discharged in good condition, with no significant complaints in her follow-up. Conclusions Although different treatment strategies have been reported for UESL cases, anatomical resection is still the main treatment approach, especially for large tumors.

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A SINGLE BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY CONFERS SIGNIFICANT EPIGENETIC ALTERATIONS

Undifferentiated soft tissue sarcomas (UDSTS ) are a group of mesenchymal tumors that remain a diagnostic challenge due to their morphologic heterogeneity and unclear histologic origin (Peters et al. 2015b). In this case report, we present the first multi-omics molecular signature for a BCOR-CCNB3 sarcoma (BCS) that includes mutation analysis, gene expression, DNA methylation, and mi-RNA expression. We identify a paucity of additional mutations in this tumor and detail that there is significant dysregulation of gene expression of epigeneic remodeling agents including key members of the PRC, Sin3A/3b, NuRD, and NcoR/SMRT complexes and the DNA methyltransferases DNMT1, DNMT3a, and DNMT3b. This is accompanied by significant DNA methylation changes and dysregulation of multiple miRNA with known links to tumorigenesis. This study significantly increases our understanding of the BCOR effects on fusion positive undifferentiated sarcomas at both the genomic and epigenomic level and suggests that as better-tailored and more refined treatment algorithms continue to evolve, epigenetic modifying agents should be further evaluated for their efficacy against these tumors.

New Aspects of Sarcomas of Uterine Corpus—A Brief Narrative Review

Sarcomas of the uterine corpus are rare malignant neoplasms, which are further classified into mesenchymal tumors, and mixed (epithelial plus mesenchymal) tumors. The main issues concerning these neoplasms are the small number of clinical trials, insufficient data from evidence-based medicine, insignificant interest from the pharmaceutical industry, all of which close a vicious circle. The low frequency of these malignancies implies insufficient experience in the diagnosis, hence incomplete surgical and complex treatment. Additionally, the rarity of these sarcomas makes it very difficult to develop clinical practice guidelines. Preoperative diagnosis, neoadjuvant and adjuvant chemoradiation, target and hormone therapies still raise many controversies. Disagreements about the role and type of surgical treatment are also often observed in medical literature. There are still insufficient data about the role of pelvic lymph node dissection and fertility-sparing surgery. Pathologists’ experience is of paramount importance for an accurate diagnosis. Additionally, genetics examinations become part of diagnosis in some sarcomas of the uterine corpus. Some gene mutations observed in uterine sarcomas are associated with different outcomes. Therefore, a development of molecular classification of uterine sarcomas should be considered in the future. In this review, we focus on the epidemiology, pathogenesis, pathology, diagnosis and treatment of the following sarcomas of the uterine corpus: leiomyosarcoma, low- and high-grade endometrial stromal sarcomas, undifferentiated sarcoma and adenosarcoma. Uterine carcinosarcomas are excluded as they represent an epithelial tumor rather than a true sarcoma.

Correlation of Clinical, Histopathological and Histomorphometric Features of Canine Soft Tissue Sarcomas

Soft-tissue sarcomas (STS) represent a heterogeneous group of tumours with similar histological characteristics and biological behaviour. This study aimed to describe the correlation between clinical, histopathological and histomorphometric features of STS in dogs. Medical records were reviewed to identify all dogs in which an STS was diagnosed between 2006-2017. Thirty cases were included, and tumour samples and medical records were recovered. Most of the dogs were mixed breed (40%) and 80% of the STS were located in the subcutaneous connective tissue. Histopathological classification showed that undifferentiated sarcoma (17%) and peripheral nerve sheath tumour (30%) were the most common STS. Grade I STS were obtained in 50% of cases (15/30), and grade II or III tumours compromised 43% (13/30) and 7% (2/30) respectively. The mitotic index ranged from zero to 26 (5.8 ± 7.5). Increased nucleus:cytoplasm ratio was moderately associated with higher tumour grade (p = 0.05; rS = 0.361) and mitotic index (p = 0.05; rS = 0.355), while the number of microvessels was positively correlated with degree of differentiation (p = 0.05; rS = 0.362) and nuclear pleomorphism (p = 0.036; rS = 0.384). Histomorphometry proved to be useful in the evaluation of STS, representing an additional tool correlated with well-established prognostic factors (histopathological grade, degree of differentiation, nuclear pleomorphism).

Primary Renal BCOR-CCNB3 Fusion Sarcoma: A Case Report and Review of the Literature

<i>BCOR-CCNB3</i> fusion sarcoma is a recently described undifferentiated sarcoma with a novel recurrent inversion of 2 nearby genes <i>BCOR</i> and <i>CCNB3</i>. It typically affects bone and soft tissues of the pelvis, extremity, and paraspinal region and pursues variable clinical course. Primary renal <i>BCOR-CCNB3</i> fusion sarcoma is very rare, and only a small number of cases have been documented. Accurate diagnosis is often challenging, and there is not any agreement for the treatment of this entity due to its rarity. We report findings of primary renal <i>BCOR-CCNB3</i> fusion sarcoma in a 16-year-old boy with a brief review of the literature.

Rapidly fatal SMARCA4-deficient undifferentiated sarcoma originating from hybrid hemosiderotic fibrolipomatous tumor/pleomorphic hyalinizing angiectatic tumor of the foot

Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts and hemosiderotic fibrolipomatous tumor (HFLT) are two rare low-grade locally recurring neoplasms with predilection for the foot/ankle. Recent studies support a close link between the two entities, and origin of PHAT from HFLT and occurrence of hybrid HFLT/PHAT have been documented. Both lesions often harbor TGFBR3 or MGEA5 rearrangements. Rare sarcomas originating from HFLT/PHAT have been reported, typically resembling myxofibrosarcoma or myxoinflammatory fibroblastic sarcoma. We describe a novel SMARCA4-deficient undifferentiated sarcoma with rhabdoid features originating from hybrid HFLT/PHAT in the foot of a 54-year-old male. The tumor pursued a highly aggressive course with rapid regrowth after resection and multiple metastases resulting in patient’s death within 5 months, despite systemic chemotherapy. Immunohistochemistry revealed SMARCA4 loss in the undifferentiated sarcoma, but not in the HFLT/PHAT. Molecular testing confirmed TGFBR3/MGEA5 rearrangements. This report expands the phenotypes of sarcomas developing from pre-existing PHAT/HFLT.

Pleuropneumonectomy as Salvage Therapy in Children Suffering from Primary or Metastatic Sarcomas with Pleural Localizations

Pediatric sarcoma patients with pleuropulmonary lesions have a dismal prognosis because the impossibility to obtain local control. The aim of this study was to determine if pleuropneumonectomy (PP) could be a therapeutic option. We retrospectively reviewed nine patients who underwent salvage PP for pleuropulmonary localization of primary localized sarcoma or metastatic recurrence. Surgery and complications were analyzed, pulmonary function tests were conducted, and quality of life was determined with EORTC-QLQ-C30 questionnaire. At the time of PP age was between 9–17 years. Underlying disease included metastatic osteosarcoma (n = 5), Ewing sarcoma (two metastatic, one primary), and one primary undifferentiated sarcoma. Early complications occurred in three patients. Mean postoperative hospitalization stay was 14.5 days. Pulmonary function test showed 19–66% reduction of total lung capacity which led to mild exercise intolerance but did not affect daily life. Four patients died of multi-metastatic relapse <14 months after PP, one patient had a local recurrence, and four patients are in complete remission between 1.5 and 12 years after PP. In conclusion, in this small patient group treated with a pleuropneumonectomy for primary or metastatic lesions, outcome is variable; however, this extended surgical technique was generally quite well tolerated. Postoperative lung function seems well preserved, and it seems to lead to at least an extension of life with good quality and therefor can be considered as salvage therapy.

Oral histiocytic sarcoma in a cat with mandibular invasion and regional lymph node metastasis

Case summary An 11-year-old female spayed domestic medium-hair cat presented for dental prophylaxis, at which time no oral mass was appreciated. Fifteen days after a dental cleaning, a mass expanding the oral mucosa of the rostral mandible was identified. An incisional biopsy revealed that the oral mucosa was infiltrated by neoplastic round-to-spindloid mesenchymal cells arranged in streams and small, dense aggregates consistent with an undifferentiated sarcoma. The patient was managed medically for approximately 6 months following the diagnosis, but, owing to declining health, euthanasia was elected and a post-mortem examination was performed. On post-mortem examination, the previously described neoplastic cells were infiltrating the rostral mandible and had metastasized to the right submandibular lymph node. Immunohistochemistry performed during the postmortem examination found that neoplastic cells were positive for Iba-1, CD18 and CD204, and negative for MUM-1, S100, Melan-A and E-cadherin, favoring a diagnosis of oral histiocytic sarcoma. Although recently recognized in cats, feline oral histiocytic sarcoma is rare, the tumor’s immunohistochemical profile is unstandardized, and the tumor’s behavior and prognosis are unclear. The diagnosis is challenging if small incisional biopsies are submitted and the neoplasm is poorly differentiated. This case report discusses the clinical, macroscopic, microscopic and immunohistochemical features of oral histiocytic sarcoma in a cat with mandibular invasion and submandibular lymph node metastasis. Relevance and novel information Feline primary oral histiocytic sarcoma is rare and tumor behavior and prognosis are unclear. This report broadens the immunohistochemical features of the tumor and recognizes mandibular invasion and submandibular lymph node metastasis.