Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China

Abstract

IntroductionPrimary intrathoracic liposarcoma is extremely rare, and most published series lack genetic analyses. The aim of our study is to better understand the clinicopathologic and genetic features of these rare lesions.Materials and methodsForty-three primary intrathoracic liposarcomas were identified and most cases were analyzed by systematic genetic studies, including fluorescence in situ hybridization (FISH), whole-exome sequencing (WES), and Sanger sequencing.ResultsThis series included 27 males and 16 females (ratios, 1.68:1) aged 24-73 years (median, 53 years). Tumors mainly occurred in the mediastinum (n=23, 53.5%), followed by pleural cavity (n=16, 37.2%) and lung (n=4, 9.3%). The study included 21 well-differentiated liposarcomas (WDLs), 19 dedifferentiated liposarcomas (DDLs), 2 myxoid pleomorphic liposarcomas (MPLs) and 1 pleomorphic liposarcoma (PL), without identification of myxoid liposarcoma. FISH analysis identified MDM2 amplification in 17 of 18 WDLs (94.4%) and all DDLs (16/16, 100.0%). The MDM2-nonamplified WDL was CDK4-nonamplified but FRS2-amplified. WES and Sanger sequencing found somatic TP53 mutation in the 2 MPLs. Follow-up information was available for 33 of 38 cases (86.8%). Thirteen patients (39.4%) showed no evidence of disease, 10 patients (30.3%) were alive with disease, and 8 patients (24.2%) died of disease. Fourteen cases developed recurrence and 1 with metastasis.ConclusionsWDL/DDL was the overwhelming subtype in this location, followed by MPL and PL. Analysis of the FRS2 gene, in combination with MDM2 and other genes of 12q13-15, may more precisely characterize WDL/DDLs. MPL is the most fatal subtype of this site. Further studies are needed to explore the role of TP53 in the pathogenesis of MPL.

Giant primary liposarcoma of the mediastinum: A case report and review of the literature

“…11 Previous case reports or research on primary mediastinal DDL have shown that complete surgical excision was performed in almost all patients. 4,[11][12][13][14] As mentioned above, a total of 41 literature reported 95 cases of PMLs, Of them, histologic examination confirmed 21 cases of DDL, but only 3 cases of DDL in the posterior mediastinum had been reported, and as follows: Kentaro Miura et al 12 reported a 75-year-old man, who did not exhibit any symptoms, but chest CT showed a huge tumor (20 cm in diameter) in the posterior mediastinum, which projected on either side of the intrathoracic space, surgical resection was performed, pathology revealed DDL, and there was no recurrence at 3 months. Hejin P. Hahn et al 4 reported a 65-year-old man, whose chest CT showed a 17 cm huge tumor in the posterior mediastinum.…”

Primary myxoid pleomorphic liposarcoma in the anterior mediastinum a case report

“…CT and MRI (magnetic resonance imaging) are the main examination methods of the disease. On CT images is often characterized by uniform density or owe homogeneous low density lump, most do not appear calci cation, CT value between fat density, tumor border and clear, the shape is given priority to with class round, shallow part can present lobulated, locally connected with pleural basement, enhanced scan the margins or coated mild reinforcement, mass center usually without reinforcement, in addition, for large tumors, Local lesions such as hemorrhage, cystic degeneration and necrosis may occur, and some lesions may have invasive invasion of adjacent tissues [9,[13][14][15][16][17]. Although myxoid pleomorphic liposarcoma has many imaging features on CT ndings, it still lacks speci city.…”

Imaging features and literature review of rare primary giant liposarcoma of the esophagus

“…Primary esophageal liposarcoma is commonly observed in elderly individuals over the age of 60 [5], albeit sporadically seen in adolescents. It exhibits a higher incidence in males compared to females.…”