새로운 4방향전위인 t(5;9;22;18)(q31;q34;q11.2;q21)이 관찰된 만성골수성백혈병 1예
A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia
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만성골수성백혈병은 t(9;22)(q34;q11)에 의해 형성되는 필라델피아염색체(Philadelphia chromosome)의 존재를 특징으로 하는 질환이다. 9번, 22번 염색체 외에 다른 염색체의 재배열(rearrangement)이 동반되는 이형 필라델피아염색체는 만성골수성백혈병의 5-10%에서 나타난다. 이형 필라델피아염색체 중 4방향전위(four way translocation)를 보이는 경우는 매우 드물게 나타나고 지금까지 60여 증례만 보고되었다. 저자들은 만성골수성백혈병에서 아직 보고되지 않은 4방향전위 이형 필라델피아염색체를 보인 1예를 보고한다. 염색체검사는 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21)를 보였고, 4방향전위를 확인하기 위해 시행한 다색형광제자리부합검사에서는 염색체검사 결과와 같았다. 역전사이중중합효소연쇄반응에서 major BCR-ABL1 유전자 재배열 양성 소견을 보였다. Imatinib 투여 12개월 후 환자는 혈액학적 완전반응소견을 보였으며 염색체검사에서 정상 핵형을 보였다
Abstract
Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22)(q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases, are a result of translocations involving other chromosomes, in addition to 9 and 22. These four-way Philadelphia chromosome translocations are very rare; only about 60 patients with such chromosomes have been described. Here, we report a CML case with a novel four-way variant Philadelphia chromosome. A conventional chromosome analysis of bone marrow cells revealed a 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21) karyotype, which was confirmed by multicolor fluorescence in situ hybridization. The major BCR-ABL1 fusion gene was detected by reverse transcription-nested PCR. The patient was treated with imatinib. Twelve months after treatment, he demonstrated a complete hematologic response and chromosome analysis showed that he had a normal karyotype.
참고문헌 (20)
- Rowley JD, "Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining", Nature, 243, pp.290~293 (1973)
- Quintas-Cardama A, "Molecular biology of bcr-abl1-positive chronic myeloid leukemia", Blood, 113, pp.1619~1630 (2009)
- Marzocchi G, "Variant Philadelphia translocations: molecular-cytogenetic characterization and prognostic influence on frontline imatinib therapy, a GIMEMA Working Party on CML analysis", Blood, 117, pp.6793~6800 (2011)
- Al-Achkar W, "A novel cytogenetic abnormality t(7 ; 8)(p11.2:q11.2) and a four-way Philadelphia translocation in an imatinib mesylate-resistant chronic myeloid leukemia patient", Oncol Lett, 5, pp.617~620 (2013)
- Reid AG, "Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia", Br J Haematol, 121, pp.419~427 (2003)
- Al Achkar W, "Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report", Mol Cytogenet, 2, pp.21~ (2009)
- El-Zimaity MM, "Garcia-Manero G, et al. Results of imatinib mesylate therapy in chronic myelogenous leukaemia with variant Philadelphia chromosome", Br J Haematol, 125, pp.187~195 (2004)
- Adriana Z, "Novel four-way Ph translocation t(9 ; 22 ; 7 ; 1)(q34 ; q11 ; q22 ; p13)in a chronic myeloid leukemia patient receiving tyrosine kinase inhibitor therapy", Int J Hematol, 95, pp.315~319 (2012)
- "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" (2013)[URL]
- Okada M, "Successful treatment with nilotinib after imatinib failure in a CML patient with a four-way Ph chromosome translocation and point mutations in BCR", ABL gene, 2011, pp.93, 243~246
- Johansson B, "Cytogenetic and molecular genetic evolution of chronic myeloid leukemia", Acta Haematol, 107, pp.76~94 (2002)
- Huntly BJ, "Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia", Blood, 98, pp.1732~1738 (2001)
- Sinclair PB, "Large deletions at the t(9 ; 22)breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia", Blood, 95, pp.738~743 (2000)
- Cortes JE, "Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy", Blood, 101, pp.3794~3800 (2003)
- Richebourg S, "Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy", Cancer Genet Cytogenet, 182, pp.95~102 (2008)
- Yin CC, "t(8 ; 21)(q22 ; q22)in blast phase of chronic myelogenous leukemia", Am J Clin Pathol, 121, pp.836~842 (2004)
- Pienkowska-Grela B, "Karyotype changes during long-term targeted therapy of chronic myeloid leukemia with imatinib", Leuk Lymphoma, 50, pp.952~965 (2009)
- Kubota Y, "Chronic myeloid leukemia with a novel four-way t(6 ; 13 ; 9 ; 22)(p21 ; q32 ; q34 ; q11.2) successfully treated with imatinib mesylate", Cancer Genet Cytogenet, 201, pp.135~136 (2010)
- Stagno F, "Influence of complex variant chromosomal translocations in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors", Acta Oncol, 49, pp.506~508 (2010)
- Koshiyama DB, "Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome", Ann Hematol, 92, pp.185~189 (2013)