Cryptic SYT/SXX1 fusion gene in high-grade biphasic synovial sarcoma with unique complex rearrangement and extensive BCL2 overexpression

Autor(es)

Brassesco, Maria Sol ^[1] ; Cortez, Maria Angelica ^[2] ; Valera, Elvis Terci ^[1] ; Engel, Edgard Eduard ^[3] ; Nogueira-Barbosa, Marcello Henrique ^[4] ; Becker, Aline Paixao ^[5] ; Scrideli, Carlos Alberto ^[1] ; Tone, Luiz Gonzaga ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Pediat, Div Pediat Oncol, BR-14048900 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Genet, BR-14048900 Sao Paulo - Brazil

^[3] Univ Sao Paulo, Sch Med Ribeirao Preto, Div Orthopaed & Traumatol, BR-14048900 Sao Paulo - Brazil

^[4] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Internal Med, Div Diagnost Imaging, BR-14048900 Sao Paulo - Brazil

^[5] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Pathol, BR-14048900 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Cancer Genetics and Cytogenetics; v. 196, n. 2, p. 189-193, JAN 15 2010.
• Citações Web of Science: 5

Resumo

Synovial sarcomas are high-grade malignant mesenchymal tumors that account for 10% of all soft-tissue sarcomas. Almost 95% of these tumors are characterized by a nonrandom chromosomal abnormality, t(X;18)(p11.2;q11.2), that is observed in both biphasic and monophasic variants. In this article, we present the case of a 57-year-old woman diagnosed with high-grade biphasic synovial sarcoma in which conventional cytogenetic analysis revealed the constant presence of a unique t(18;22)(q12;q13), in addition to trisomy 8. The rearrangement was confirmed by fluorescence in situ hybridization. The use of the whole chromosome painting probes WCPX did not detect any rearrangements involving chromosome X, although reverse-transcriptase polymerase chain reaction (PCR) analysis demonstrated the conspicuous presence of a SYT/SXX1 fusion gene. Spectral karyotyping (SKY) was also performed and revealed an insertion of material from chromosome 18 into one of the X chromosomes at position Xp11.2. Thus, the karyotype was subsequently interpreted as 47,X,der(X)ins(X;18) (p11.2;q11.2q11.2),der(18)del(18)(q11.2q11.2)t(18;22)(q12;q13),der(22)t( 18;22). Real-time PCR analysis of BCL2 expression in the tumor sample showed a 433-fold increase. This rare finding exemplifies that thorough molecular-cytogenetic analyses are required to elucidate complex and/or cryptic tumor-specific translocations. (C) 2010 Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 07/54236-4 - Analise do perfil genomico em neoplasias da infancia atraves da hibridizacao genomica comparativa.
• Beneficiário: Luiz Gonzaga Tone
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 06/04827-3 - Análise de aneuploidias por hibridação genômica comparativa (CGH) em pacientes pediátricos portadores de leucemia linfóide aguda
• Beneficiário: María Sol Brassesco Annichini
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado