A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma

Journal of Pathology

Volumn 232, Issue 5, 2014, Pages 534-540

  Walther, Charles ^a,b   Tayebwa, Johnbosco ^a   Lilljebjörn, Henrik ^a   Magnusson, Linda ^a   Nilsson, Jenny ^a   Von Steyern, Fredrik Vult ^b   Øra, Ingrid ^b   Domanski, Henryk A ^b   Fioretos, Thoas ^a   Nord, Karolin H ^a   Fletcher, Christopher D M ^c   Mertens, Fredrik ^a  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

FOSB; gene fusion; paediatric; pseudomyogenic haemangioendothelioma; RNA sequencing; sarcoma; SERPINE1

Indexed keywords

SYNAPSIN I;

ADOLESCENT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BONE METASTASIS; CALCANEUS METASTASIS; CANCER DIAGNOSIS; CANCER RECURRENCE; CASE REPORT; CHROMOSOME BANDING PATTERN; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; FOSB GENE; FUSION GENE; GENE; GENE TRANSLOCATION; HEMANGIOENDOTHELIOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERPHASE; MALE; METAPHASE CHROMOSOME; PRIMARY TUMOR; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOMYOGENIC HAEMANGIOENDOTHELIOMA; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SERPINE1 GENE; START CODON; TUMOR BIOPSY; TUMOR LOCALIZATION; UPREGULATION;

FOSB; GENE FUSION; PAEDIATRIC; PSEUDOMYOGENIC HAEMANGIOENDOTHELIOMA; RNA SEQUENCING; SARCOMA; SERPINE1;

ADOLESCENT; BONE NEOPLASMS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE FUSION; GENETIC TESTING; HEMANGIOENDOTHELIOMA, EPITHELIOID; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PLASMINOGEN ACTIVATOR INHIBITOR 1; PREDICTIVE VALUE OF TESTS; PROTO-ONCOGENE PROTEINS C-FOS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA; SOFT TISSUE NEOPLASMS; TRANSCRIPTION, GENETIC; TRANSLOCATION, GENETIC; UP-REGULATION;

EID: 84895928246     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4322     Document Type: Article

References (29)

1. Hornick JL, Fletcher CDM,. Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. Am J Surg Pathol 2011; 35: 190-201.
2. Hornick JL, Mertens F, Fletcher CDM,. Pseudomyogenic haemangioendothelioma. In World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone, Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, (eds). IARC Press: Lyon, 2013; 153-154.
3. Billings SD, Folpe AL, Weiss SW,. Epithelioid sarcoma-like hemangioendothelioma. Am J Surg Pathol 2003; 27: 48-57.
4. Trombetta D, Magnusson L, Vult von Steyern F, et al. Translocation t(7; 19)(q22; q13)-a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma? Cancer Genet 2011; 204: 211-215.
5. Mandahl N, Heim S, Arheden K, et al., Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet 1988; 79: 203-208.
6. Shaffer LG, McGowan-Jordan J, Schmid M,. An International System for Human Cytogenetic Nomenclature (2013). Karger: Basel, 2013.
7. Jin Y, Möller E, Nord KH, et al., Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5; 8)(p15; q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. Genes Chromosomes Cancer 2012; 51: 510-520.
8. Kim D, Pertea G, Trapnell C, et al., TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol 2013; 14: R36.
9. Panagopoulos I, Mertens F, Domanski HA, et al., No EWS/FLI1 fusion transcripts in giant cell tumors of bone. Int J Cancer 2001; 93: 769-772.
10. Simpson AJ, Booth NA, Bennett B,. Distribution of plasminogen activator inhibitor (PAI-1) in tissues. J Clin Pathol 1991; 44: 139-143.
11. Declerck PJ, Gils A,. Three decades of research on plasminogen inhibitor-1: a multifaceted serpin. Semin Thromb Hemost 2013; 39: 356-364.
12. Ju H, Lim B, Kim M, et al., SERPINE1 intron polymorphisms affecting gene expression are associated with diffuse-type gastric cancer susceptibility. Cancer 2010; 116: 4248-4255.
13. Ghosh AK, Vaughan DE,. PAI-1 in tissue fibrosis. J Cell Physiol 2012; 227: 493-507.
14. Mitelman F, Johanssson B, Mertens F,. The impact of translocations and gene fusions in cancer causation. Nat Rev Cancer 2007; 7: 233-245.
15. Hibbard MK, Kozakewich HP, Dal Cin P, et al., PLAG1 fusion oncogenes in lipoblastoma. Cancer Res 2000; 60: 4869-4872.
16. Sirvent N, Maire G, Pedeutour F,. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer 2003; 37: 1-19.
17. Oliveira AM, Perez-Atayde AR, Dal Cin P, et al., Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 2005; 24: 3419-3426.
18. Milde-Langosch K., The Fos family of transcription factors and their role in tumourigenesis. Eur J Cancer 2005; 41: 2449-2461.
19. Shaulian E., AP-1-the Jun proteins: oncogenes or tumor suppressors in disguise? Cell Signal 2010; 22: 894-899.
20. Sabatakos G, Sims NA, Chen J, et al., Overexpression of ΔFosB transcription factor(s) increases bone formation and inhibits adipogenesis. Nat Med 2000; 6: 985-990.
21. Sabatakos G, Rowe GC, Kveiborg M, et al., Doubly truncated FosB isoform (Δ2ΔFosB) induces osteosclerosis in transgenic mice and modulates expression and phosphorylation of Smads in osteoblasts independent of intrinsic AP-1 activity. J Bone Miner Res 2008; 23: 584-595.
22. Ohnishi YN, Sakumi K, Yamazaki K, et al., Antagonistic regulation of cell-matrix adhesion by FosB and ΔFosB/Δ2ΔFosB encoded by alternatively spliced forms of fosB transcripts. Mol Biol Cell 2008; 19: 4717-4729.
23. Ramachandran A, Gong EM, Pelton K, et al., FosB regulates stretch-induced expression of extracellular matrix proteins in smooth muscle. Am J Pathol 2011; 179: 2977-2989.
24. Brastianos PK, Horowitz PM, Santagata S, et al., Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet 2013; 45: 285-289.
25. Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer 2013, Mitelman F, Johansson B, and, Mertens F, (eds): http://cgap.nci.nih.gov/ Chromosomes/Mitelman [accessed 21 November 2013].
26. Weiss SW, Antonescu CR, Bridge JA, et al., Epithelioid haemangioendothelioma. In WHO Classification of Soft Tissue and Bone Tumours, Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, (eds). IARC Press: Lyon, 2013; 155-156.
27. Errani C, Zhang L, Sung YS, et al., A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer 2011; 50: 644-653.
28. Tanas MR, Sboner A, Oliveira AM, et al., Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma. Sci Transl Med 2011; 3: 98ra82.
29. Antonescu CR, Le Loarer F, Mosquera J-M, et al., Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer 2013; 52: 775-784.