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Literature DB >> 31686193

What is new in epithelioid soft tissue tumors?

Abstract

Epithelioid cell features mimicking carcinomas characterize a variety of histogenetically, phenotypically, and molecularly distinct subsets of mesenchymal neoplasms. In a pathogenetic sense, epithelioid soft tissue tumors basically fall into three main genetic categories: (1) switch/sucrose non-fermenting (SWI/SNF) complex-deficient tumors (with epithelioid sarcoma as their prototype); (2) epithelioid neoplasms driven by specific rare gene fusions (such as sclerosing epithelioid fibrosarcoma with EWSR1 fusions and GLI1-related malignant epithelioid soft tissue neoplasms); and (3) a heterogeneous group encompassing epithelioid variants of diverse other entities. Notably, lesions in the first and third groups may display variable, occasionally prominent, rhabdoid cell morphology, thus further complicating their differential diagnosis. This review summarizes the main clinicopathological, phenotypic, and genotypic features of these diseases and discusses their pertinent differential diagnostic considerations.

Entities: Chemical Disease Gene

Keywords: Epithelioid sarcoma; GLI1 amplification; GLI1 translocation; KMT2A-YAP1 fusions; NUT malignancies; Rhabdoid; SMARCB1; SWI/SNF complex; Sclerosing epithelioid fibrosarcoma

Mesh：

Substances：

Year: 2019 PMID： 31686193 DOI： 10.1007/s00428-019-02677-8

Source DB: PubMed Journal: Virchows Arch ISSN： 0945-6317 Impact factor: 4.064

58 in total

1. SWI/SNF Chromatin-remodeling Complex Status in SMARCB1/INI1-preserved Epithelioid Sarcoma.

Authors: Kenichi Kohashi; Hidetaka Yamamoto; Yuichi Yamada; Izumi Kinoshita; Tomoaki Taguchi; Yukihide Iwamoto; Yoshinao Oda
Journal: Am J Surg Pathol Date: 2018-03 Impact factor: 6.394

2. Dedifferentiated liposarcoma composed predominantly of rhabdoid/epithelioid cells: a frequently misdiagnosed highly aggressive variant.

Authors: Abbas Agaimy; Michael Michal; Ladislav Hadravsky; Michal Michal
Journal: Hum Pathol Date: 2018-01-05 Impact factor: 3.466

3. Rhabdoid and Undifferentiated Phenotype in Renal Cell Carcinoma: Analysis of 32 Cases Indicating a Distinctive Common Pathway of Dedifferentiation Frequently Associated With SWI/SNF Complex Deficiency.

Authors: Abbas Agaimy; Liang Cheng; Lars Egevad; Bernd Feyerabend; Ondřej Hes; Bastian Keck; Stefano Pizzolitto; Stefano Sioletic; Bernd Wullich; Arndt Hartmann
Journal: Am J Surg Pathol Date: 2017-02 Impact factor: 6.394

4. [Fate of patients with chronic nonspecific respiratory tract disease with decreased ventilatory capacity of the lungs 5 years after treatment at a clinic].

Authors: E Kalarus; J Pudelski
Journal: Pneumonol Pol Date: 1984 Nov-Dec

5. NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors.

Authors: Brendan C Dickson; Yun-Shao Sung; Marc K Rosenblum; Victor E Reuter; Mohammed Harb; Jay S Wunder; David Swanson; Cristina R Antonescu
Journal: Am J Surg Pathol Date: 2018-05 Impact factor: 6.394

6. MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement.

Authors: Leona A Doyle; Wei-Lien Wang; Paola Dal Cin; Dolores Lopez-Terrada; Fredrik Mertens; Alexander J F Lazar; Christopher D M Fletcher; Jason L Hornick
Journal: Am J Surg Pathol Date: 2012-10 Impact factor: 6.394

7. Concurrent loss of INI1, PBRM1, and BRM expression in epithelioid sarcoma: implications for the cocontributions of multiple SWI/SNF complex members to pathogenesis.

Authors: Li Li; Xiang-Shan Fan; Qiu-Yuan Xia; Qiu Rao; Biao Liu; Bo Yu; Qun-Li Shi; Zhen-Feng Lu; Xiao-Jun Zhou
Journal: Hum Pathol Date: 2014-08-05 Impact factor: 3.466

8. Epigenetic regulation of SMARCB1 By miR-206, -381 and -671-5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR-765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas.

Authors: Zoltán Sápi; Gergő Papp; Miklós Szendrői; Zsuzsanna Pápai; Vanda Plótár; Thomas Krausz; Christopher D M Fletcher
Journal: Genes Chromosomes Cancer Date: 2016-06-24 Impact factor: 5.006

5. Epithelioid Malignant Peripheral Nerve Sheath Tumor in the Liver: Report of a Rare Unusual Case with Rhabdoid Morphology and Review of the Literature.

Authors: Benjamin J Van Treeck; Samar Said; Saba Yasir
Journal: Case Rep Pathol Date: 2022-02-18

5 in total

What is new in epithelioid soft tissue tumors?

1. SWI/SNF Chromatin-remodeling Complex Status in SMARCB1/INI1-preserved Epithelioid Sarcoma.

2. Dedifferentiated liposarcoma composed predominantly of rhabdoid/epithelioid cells: a frequently misdiagnosed highly aggressive variant.

3. Rhabdoid and Undifferentiated Phenotype in Renal Cell Carcinoma: Analysis of 32 Cases Indicating a Distinctive Common Pathway of Dedifferentiation Frequently Associated With SWI/SNF Complex Deficiency.

4. [Fate of patients with chronic nonspecific respiratory tract disease with decreased ventilatory capacity of the lungs 5 years after treatment at a clinic].

5. NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors.

6. MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement.

7. Concurrent loss of INI1, PBRM1, and BRM expression in epithelioid sarcoma: implications for the cocontributions of multiple SWI/SNF complex members to pathogenesis.

8. Epigenetic regulation of SMARCB1 By miR-206, -381 and -671-5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR-765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas.

Review 9. NUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment.

10. Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions.

1. SWI/SNF complex-deficient soft tissue neoplasms: An update.

2. Expanding the spectrum of mesenchymal neoplasms with NR1D1-rearrangement.

3. Cytomorphologic Spectrum of SMARCB1-Deficient Soft Tissue Neoplasms.

Review 4. Epithelioid Cutaneous Mesenchymal Neoplasms: A Practical Diagnostic Approach.

5. Epithelioid Malignant Peripheral Nerve Sheath Tumor in the Liver: Report of a Rare Unusual Case with Rhabdoid Morphology and Review of the Literature.