Literature DB >> 20978765

[Molecular methods in the diagnosis of sarcoma].

S Merkelbach-Bruse1, E Wardelmann, H Künstlinger, R Büttner, H-U Schildhaus.   

Abstract

The use of modern molecular techniques has gained importance in the diagnosis of sarcomas in recent years. Each of the analytical methods discussed here has its unique advantages and specific requirements. Cytogenetic screening methods which provide genome-wide information depend on the availability of fresh tissue. With the aid of fluorescence in situ hybridization and RT-polymerase chain reaction, specific events such as translocations in Ewing sarcoma, synovial sarcoma or alveolar rhabdomyosarcoma, as well as gene amplifications in well-differentiated and dedifferentiated liposarcoma or radiation-induced angiosarcoma and deletions in rhabdoid tumors or well-differentiated spindle cell liposarcoma can be detected in fresh and formalin fixed tissues. Molecular methods including Sanger sequencing, pyrosequencing and high resolution melting provide information about specific molecular aberrations on gene level. Here we review the most important molecular techniques currently used in sarcoma diagnosis, describe their relevance for differential diagnosis and point out specific examples.

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Year:  2011        PMID: 20978765     DOI: 10.1007/s00292-010-1395-x

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  27 in total

Review 1.  Contribution of molecular genetic data to the classification of sarcomas.

Authors:  M Ladanyi; J A Bridge
Journal:  Hum Pathol       Date:  2000-05       Impact factor: 3.466

2.  Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group.

Authors:  F Mertens; P Dal Cin; I De Wever; C D Fletcher; N Mandahl; F Mitelman; J Rosai; A Rydholm; R Sciot; G Tallini; H van Den Berghe; R Vanni; H Willén
Journal:  J Pathol       Date:  2000-01       Impact factor: 7.996

3.  Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes.

Authors:  D Pinkel; J W Gray; B Trask; G van den Engh; J Fuscoe; H van Dekken
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

4.  Well-differentiated spindle cell liposarcoma ('atypical spindle cell lipomatous tumor') does not belong to the spectrum of atypical lipomatous tumor but has a close relationship to spindle cell lipoma: clinicopathologic, immunohistochemical, and molecular analysis of six cases.

Authors:  Thomas Mentzel; Gabriele Palmedo; Cornelius Kuhnen
Journal:  Mod Pathol       Date:  2010-03-12       Impact factor: 7.842

5.  MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data.

Authors:  Matthieu Bui Nguyen Binh; Xavier Sastre-Garau; Louis Guillou; Gonzague de Pinieux; Philippe Terrier; Réal Lagacé; Alain Aurias; Isabelle Hostein; Jean Michel Coindre
Journal:  Am J Surg Pathol       Date:  2005-10       Impact factor: 6.394

6.  hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities.

Authors:  F Bourdeaut; P Fréneaux; B Thuille; A Lellouch-Tubiana; A Nicolas; J Couturier; G Pierron; C Sainte-Rose; C Bergeron; R Bouvier; X Rialland; V Laurence; J Michon; X Sastre-Garau; O Delattre
Journal:  J Pathol       Date:  2007-02       Impact factor: 7.996

7.  Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR.

Authors:  Nicolas Sirvent; Jean-Michel Coindre; Georges Maire; Isabelle Hostein; Frédérique Keslair; Louis Guillou; Dominique Ranchere-Vince; Philippe Terrier; Florence Pedeutour
Journal:  Am J Surg Pathol       Date:  2007-10       Impact factor: 6.394

Review 8.  Mutation analysis of gastrointestinal stromal tumors: increasing significance for risk assessment and effective targeted therapy.

Authors:  Eva Wardelmann; Reinhard Büttner; Sabine Merkelbach-Bruse; Hans-Ulrich Schildhaus
Journal:  Virchows Arch       Date:  2007-08-14       Impact factor: 4.064

9.  Delineation of HER2 gene status in breast carcinoma by silver in situ hybridization is reproducible among laboratories and pathologists.

Authors:  Antonino Carbone; Gerardo Botti; Annunziata Gloghini; Gianni Simone; Mauro Truini; Maria Pia Curcio; Patrizia Gasparini; Anita Mangia; Tiziana Perin; Sandra Salvi; Adele Testi; Paolo Verderio
Journal:  J Mol Diagn       Date:  2008-10-02       Impact factor: 5.568

10.  LRP16 is fused to RUNX1 in monocytic leukemia cell line with t(11;21)(q13;q22).

Authors:  Shizuka Imagama; Akihiro Abe; Momoko Suzuki; Fumihiko Hayakawa; Akira Katsumi; Nobuhiko Emi; Hitoshi Kiyoi; Tomoki Naoe
Journal:  Eur J Haematol       Date:  2007-05-28       Impact factor: 2.997

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