Literature DB >> 31701221

Update on selected advances in the immunohistochemical and molecular genetic analysis of soft tissue tumors.

Khin Thway1, Andrew L Folpe2.   

Abstract

Although traditional morphological evaluation remains the cornerstone for the diagnosis of soft tissue tumors, ancillary diagnostic modalities such as immunohistochemistry and molecular genetic analysis are of ever-increasing importance in this field. New insights into the molecular pathogenesis of soft tissue tumors, often obtained from high-throughput sequencing technologies, has enabled significant progress in the characterization and biologic stratification of mesenchymal neoplasms, expanding the spectrum of immunohistochemical tests (often aimed towards recently discovered genetic events) and molecular genetic assays (most often fluorescence in situ hybridization and reverse transcription-polymerase chain reaction). This review discusses selected novel molecular and immunohistochemical assays with diagnostic applicability in mesenchymal neoplasms, with emphasis on diagnosis, refinement of tumor classification, and treatment stratification.

Entities:  

Keywords:  BCOR; CIC-DUX4; EWSR1; Genetics; Immunohistochemistry; Molecular diagnosis; NTRK; Pathology; SMARCA4; SMARCB1; Sarcoma; Soft tissue tumors; Targeted therapy

Mesh:

Substances:

Year:  2019        PMID: 31701221     DOI: 10.1007/s00428-019-02678-7

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


  85 in total

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Authors:  Jaclyn F Hechtman; Ryma Benayed; David M Hyman; Alexander Drilon; Ahmet Zehir; Denise Frosina; Maria E Arcila; Snjezana Dogan; David S Klimstra; Marc Ladanyi; Achim A Jungbluth
Journal:  Am J Surg Pathol       Date:  2017-11       Impact factor: 6.394

2.  EWSR1-SMAD3-rearranged Fibroblastic Tumor: An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofibroblastic Neoplasms.

Authors:  Michael Michal; Ryan S Berry; Brian P Rubin; Scott E Kilpatrick; Abbas Agaimy; Dmitry V Kazakov; Petr Steiner; Nikola Ptakova; Petr Martinek; Ladislav Hadravsky; Kvetoslava Michalova; Zoltan Szep; Michal Michal
Journal:  Am J Surg Pathol       Date:  2018-10       Impact factor: 6.394

3.  Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

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Journal:  Cancer Res       Date:  1999-01-01       Impact factor: 12.701

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Journal:  Nouv Presse Med       Date:  1973-01-20

5.  Penile pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma with a novel pattern of SERPINE1-FOSB fusion detected by RT-PCR--report of a case.

Authors:  Yoshi-Hiro Ide; Yoshitane Tsukamoto; Takaaki Ito; Takahiro Watanabe; Noboru Nakagawa; Takashi Haneda; Makoto Nagai; Kiyofumi Yamanishi; Seiichi Hirota
Journal:  Pathol Res Pract       Date:  2015-02-17       Impact factor: 3.250

6.  A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites.

Authors:  Costantino Errani; Lei Zhang; Yun Shao Sung; Mihai Hajdu; Samuel Singer; Robert G Maki; John H Healey; Cristina R Antonescu
Journal:  Genes Chromosomes Cancer       Date:  2011-05-16       Impact factor: 5.006

7.  SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior.

Authors:  Jennifer L Sauter; Rondell P Graham; Brandon T Larsen; Sarah M Jenkins; Anja C Roden; Jennifer M Boland
Journal:  Mod Pathol       Date:  2017-06-23       Impact factor: 7.842

8.  Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.

Authors:  Sushama Patil; Arie Perry; Mia Maccollin; Shumin Dong; Rebecca A Betensky; Tu-Hsueh Yeh; David H Gutmann; Anat O Stemmer-Rachamimov
Journal:  Brain Pathol       Date:  2008-04-15       Impact factor: 6.508

Review 9.  Oncogenic roles of SMARCB1/INI1 and its deficient tumors.

Authors:  Kenichi Kohashi; Yoshinao Oda
Journal:  Cancer Sci       Date:  2017-04-12       Impact factor: 6.716

10.  Diagnostic utility of FOSB immunohistochemistry in pseudomyogenic hemangioendothelioma and its histological mimics.

Authors:  Shintaro Sugita; Hiroshi Hirano; Noriaki Kikuchi; Terufumi Kubo; Hiroko Asanuma; Tomoyuki Aoyama; Makoto Emori; Tadashi Hasegawa
Journal:  Diagn Pathol       Date:  2016-08-11       Impact factor: 2.644

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  4 in total

Review 1.  Complex Elucidation of Cells-of-Origin in Pediatric Soft Tissue Sarcoma: From Concepts to Real Life, Hide-and-Seek through Epigenetic and Transcriptional Reprogramming.

Authors:  Clara Savary; Cécile Picard; Nadège Corradini; Marie Castets
Journal:  Int J Mol Sci       Date:  2022-06-04       Impact factor: 6.208

2.  Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene.

Authors:  Yuta Kubota; Kazuhiro Tanaka; Masanori Hisaoka; Tsutomu Daa; Tatsuya Iwasaki; Masanori Kawano; Ichiro Itonaga; Hiroshi Tsumura
Journal:  BMC Musculoskelet Disord       Date:  2021-01-21       Impact factor: 2.362

3.  EWSR1-ATF1 dependent 3D connectivity regulates oncogenic and differentiation programs in Clear Cell Sarcoma.

Authors:  Emely Möller; Viviane Praz; Sanalkumar Rajendran; Rui Dong; Alexandra Cauderay; Yu-Hang Xing; Lukuo Lee; Carlo Fusco; Liliane C Broye; Luisa Cironi; Sowmya Iyer; Shruthi Rengarajan; Mary E Awad; Beverly Naigles; Igor Letovanec; Nicola Ormas; Giovanna Finzi; Stefano La Rosa; Fausto Sessa; Ivan Chebib; G Petur Nielsen; Antonia Digklia; Dimitrios Spentzos; Gregory M Cote; Edwin Choy; Martin Aryee; Ivan Stamenkovic; Gaylor Boulay; Miguel N Rivera; Nicolò Riggi
Journal:  Nat Commun       Date:  2022-04-27       Impact factor: 17.694

Review 4.  The epigenomics of sarcoma.

Authors:  Benjamin A Nacev; Kevin B Jones; Andrew M Intlekofer; Jamie S E Yu; C David Allis; William D Tap; Marc Ladanyi; Torsten O Nielsen
Journal:  Nat Rev Cancer       Date:  2020-08-11       Impact factor: 69.800

  4 in total

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