Soft tissue tumors - the view of the molecular biologist

Česká verzia

Authors: Lenka Krsková; Marcela Mrhalová; Markéta Kalinová; Vít Campr; Linda Čapková; Marek Grega; Jaromír Háček; Ludmila Hornofová; Mária Chadimová; Renata Chmelová; Daniela Kodetová; Josef Zámečník; Roman Kodet
Authors place of work: Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol
Published in the journal: Čes.-slov. Patol., 50, 2014, No. 3, p. 132-140
Category: Přehledový článek

Summary

Soft tissue tumors (SSTs) constitute a broad spectrum of neoplasms with diverse biological properties. Rare or unusual types are often difficult to classify. Recent studies show, that a significant subset of SSTs including many types of sarcomas are associated with specific genetic changes such as chromosomal translocations producing chimeric genes, which play a role in the pathogenesis of SSTs. Because SSTs represent a diagnostically challenging group of tumors, molecular-genetic techniques (FISH or PCR) are useful as supplementary and/or confirmatory diagnostic tools. In the present paper we demonstrate the usefulness of a combined diagnostic approach using the tools of classical histopathology and immunohistochemistry together with the molecular diagnostic approach in selected nosologic entites.

Keywords:
soft tissue tumors – translocation – RT-PCR

Zdroje

1. Kodet R, Mrhalová M, Krsková L. Nádory měkkých tkání. Základní orientace v počínání patologa. Referátový výběr Onkologie 2007; 24, speciál 1/07: 22-30.

2. Veselý K. Histopatologická diagnostika nádorů měkkých tkání. Onkologie 2010; 4: 293-296.

3. Stejskalová E, Jarošová M, Mališ J, et al. Clinical relevance of chromosomal aberrations in bone and soft tissue tumors in children and young adults. Klinická Onkologie 2009; 22(2): 58-66.

4. Kodet R, Stejskal J, Pilát D, Kocourková M, Šmelhaus V, Eckschlager T. Congenital-infantile fibrosarcoma: A clinicopathological study of five patients entered on the Prague Children´s Tumor Registry. Pathol Res Pract 1996; 192: 845-853.

5. Malthotra B, Schuetze SM. Dermatofibrosarcoma protuberans treatment with platelet-derived growth factor receptor inhibitor: a review of clinical trial results. Curr Opin Oncol 2012; 24: 419-424.

6. Zambo I, Veselý K. WHO klasifikace nádorů měkkých tkání a kostí 2013: hlavní změny oproti 3. Vydání. Cesk Patol 2014; 50(2): 64-70.

7. Errani C, Zhang L, Sung YS, et al. A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epitheloid hemangioendothelioma of different anatomic sites. Genes, Chromosomes and Cancer 2011; 50: 644-653.

8. Wang L, Motoi T, Khanin R, et al. Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes, Chromosomes and Cancer 2012; 51: 127-139.

9. Filion C, Labelle Y. Identification of genes regulated by the EWS/NR4A3 fusion protein in extrasceletal myxoid chondrosarcoma. Tumour Biol 2012; 33: 1599-1605.

10. Lee SB, Kolquist KA, Nichols K, et al. The EWS-WT1 translocation product induces PDGFA in desmoplastic small roundcell tumour. Nature Genetics 1997; 17: 309–313.

11. Stuart-Buttle CE, Smart CJ, Pritchard S, et al. Desmoplastic small round cell tumour: a review of literature and treatment options. Surgical Oncology 2008; 17(2): 107–112.

12. Procházka P, Vícha A, Kodet R, Kodetová D, Eckschlager T. Nádory ze skupiny Ewingova sarkomu – molekulární biologie a genetika. Klinická onkologie 2007; 20: 205-208.

13. Shing DC, McMullan DJ, Roberts P, et al. FUS/ERG gene fusion in Ewing´s tumors. Cancer Res 2003; 63: 4568-4576.

14. Graham C, Chilton-MacNeill S, Zielenska M, Somers GR. The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas. Hum Pathol 2012; 43: 180-189.

15. Italioano A, Sung YS, Zhang L, Singer S, Maki RG, Coindre JM, Antonescu CR. High prevalence of CIC fusion with double-homeobox (Dux4) transcription factors in EWSRI – negative undifferentiated small blue round cell sarcomas. Genes, Chromosomes and Cancer 2012; 51: 207-218.

16. Thorner P, Squire J, Chilton-MacNeil S et al. Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. Am J Pathol 1996; 148: 1125–1138.

17. Bennicelli JL, Barr F. Chromosomal translocation and sarcomas. Curr Opin Oncol 2002; 14(4): 412-419.

18. Worley BS, van den Broeke LT, Goletz TJ, et al.: Antigenicity of fusion proteins from sarcoma-associated chromosomal translocations. Cancer Res 2001; 61: 6868-6875.