Retrospective Evaluation of 10-Year Results of T (9; 22) Bcr-Abl Translocation Via Real-Time Rt-Pcr In Leukemia
Abstract
Objective: The
t(9;22) chromosomal translocation is a diagnostic marker for the chronic
myeloid leukemia (CML) which is characterized by abnormal accumulation of
hematopoietic cells in the bone marrow. The translocation resulting in the
formation of the Philadelphia chromosome; develops in KML cases and is observed
in 95% of patients, it is the indicator of poorer prognosis in acute
lymphoblastic
leukemia (ALL) and acute myeloid leukemia (AML). In this study, the CML
pre-diagnosed patients in Medical Biology Department for the 2004-2013 period
are analyzed for t(9; 22) and the results are evaluated.
Methods: The
determination of BCR-ABL fusion gene expression for the CML pre-diagnosed
patients between 2004-2013, has been conducted in 361 children and 2433 adult
cases. 125 of children cases and 626 of adult cases are follow-up patients and
total RNA or mRNA isolations are conducted for 3612 blood (%59) and 2516 bone
marrow (%41) samples.
Results: In
the Medical Biology Department, 6128 t(9;22) expression analysis are conducted
for the 2004-2013 period. In follow-up children cases, (average age
10.43±5.07), 545 analyses changing between 2 and 26 are conducted; in follow-up
adult cases (average age 51.07±14.63), 753 analysis changing between 2 and 30
are conducted. The BCR-ABL fusion gene expression determined to be positive for
38 children cases and for 474 adult cases.
Discussion and conclusion: The
quantitative measurement of BCR-ABL in blood and bone marrow are important for
initial diagnosis of CML and for better understanding of t(9; 22) leukemia
positive cells’ pathology after routine treatment.
References
- Referans1 Nowell P, Hungerford D. A minute chromosome in chronic granulocytic leukemia. Science 1960;132:1497.
- Referans2 Rowley JD. Letter. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973;243(5405):290-3.
- Referans3 Zheng X , Oancea C, Henschler R, Malcolm A. S. Moore, Ruthard M. Reciprocal t(9;22) ABL/BCR Fusion Proteins: Leukemogenic Potential and Effects on B Cell Commitment. PLoS One 2009;4(10):e7661.
- Referans4 Klug, SW, Cummings RM. Genetik Kavramlar. Öner C. Vol. 2, Palme Yayıncılık, Ankara, 2002.
- Referans5 Schulz W. Molecular Biology of Human Cancers. Springer Science and Business Media, 2005;219-226.
- Referans6 Telegeev GD, Dubrovska AN, Dybkov MV, Maliuta SS. Influence of BCR/ABL fusion proteins on the course of Ph leukemias. Acta Biochim Pol 2004;51(3):845-9.
- Referans7 Müller MC, Saglio G, Lin F, Pfeifer H, Press RD, Tubbs RR, Paschka P, Gottardi E, O'Brien SG, Ottmann OG, Stockinger H, Wieczorek L, Merx K, König H, Schwindel U, Hehlmann R, Hochhaus A. An international study to standardize the detection and quantitation of BCR-ABL transcripts from stabilized peripheral blood preparations by quantitative RT-PCR. Haematologica 2007;92(7):970-3.
- Referans8 Mauté C, Nibourel O, Réa D, Coiteux V, Grardel N, Preudhomme C, Cayuela JM; GBMHM. Calibration of BCR-ABL1 mRNA quantification methods using genetic reference materials is a valid strategy to report results on the international scale. Clin Biochem 2014;47(13-14):1333-6.
- Referans9 Moore FR, Rempfer CB, Press RD. Quantitative BCR-ABL1 RQ-PCR Fusion Transcript Monitoring in Chronic Myelogenous Leukemia. Methods Mol Biol 2013;999:1-23.
- Referans10 Yaghmaie M, Ghaffari SH, Ghavamzadeh A, et al. Frequency of BCR-ABL Fusion Transcripts in Iranian Patients with Chronic Myeloid Leukemia. Arch Iranian Med 2008;11(3):247 –251.
- Referans11 Hickey FB, Cotter TG. Identification of transcriptional targets associated with the expression of p210 Bcr-Abl. Eur J Haematol 2006;76:369–383.
Lösemilerde t(9;22) BCR-ABL Translokasyonunun Real-Time RT-PCR ile 10 Yıllık Sonuçlarının Retrospektif Değerlendirilmesi
Abstract
Amaç: Kemik iliğindeki hematopoietik hücrelerin anormal
birikimiyle karakterize olan kronik myeloid lösemi (KML) için t(9;22)
kromozomal translokasyonu tanısal bir belirteçtir. Philadelphia kromozomu
oluşumuyla sonuçlanan translokasyon, KML olgularında gelişmekte ve hastalarının
%95’inde görülmektedir ve akut lenfoblastik lösemi (ALL) ve akut myeloid lösemi
(AML)’de daha kötü bir prognozun göstergesidir. Bu çalışmada, Tıbbi Biyoloji
Anabilim dalında 2004-2013 yılları arasında gelen KML ön tanılı hastaların
t(9;22) analizi yapılarak, sonuçlarının değerlendirilmesi amaçlanmıştır.
Yöntem ve gereçler: 2004-2013 yılları arasında gelen KML ön tanılı olguların,
BCR-ABL füzyon gen ekspresyonun belirlenmesi, 361 çocuk ve 2433 erişkin olguda
gerçekleştirilmiştir. Çocuk olgularının 125’i ve erişkin olgularının 626’sı
takip hastası olup 3612 kan (%59) ve 2516 kemik iliği (%41) örneğinden total
RNA veya mRNA izolasyonu gerçekleştirilmiştir.
Bulgular: Ege Üniversitesi Tıp Fakültesi Tıbbi Biyoloji Anabilim
dalında 2004-2013 yılları arasında 6128 t(9;22) ekspresyon analizi
gerçekleştirilmiştir. Takip hastası çocuklarda (yaş ortalaması 10,43±5,07) 2
ile 26 arasında değişen 545 analiz ve erişkin takip hastalarında (yaş
ortalaması 51,07±14,63) ise 2 ile 30 arasında değişen 753 analiz gerçekleştirilmiştir.
Çocuk olguların 38’i ve erişkin olguların 474’ü BCR-ABL füzyon gen ekspresyonu
pozitif olarak belirlenmiştir.
Tartışma ve sonuç: BCR-ABL1 transkriptlerinin kan ve kemik iliğindeki
kantitatif ölçümü, KML’nin ilk tanısı ve rutin tedavi sonrası t(9;22)-pozitif
lösemili hücrelerin patobiyolojisini daha iyi anlamamız açısından önem
taşımaktadır.
References
- Referans1 Nowell P, Hungerford D. A minute chromosome in chronic granulocytic leukemia. Science 1960;132:1497.
- Referans2 Rowley JD. Letter. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973;243(5405):290-3.
- Referans3 Zheng X , Oancea C, Henschler R, Malcolm A. S. Moore, Ruthard M. Reciprocal t(9;22) ABL/BCR Fusion Proteins: Leukemogenic Potential and Effects on B Cell Commitment. PLoS One 2009;4(10):e7661.
- Referans4 Klug, SW, Cummings RM. Genetik Kavramlar. Öner C. Vol. 2, Palme Yayıncılık, Ankara, 2002.
- Referans5 Schulz W. Molecular Biology of Human Cancers. Springer Science and Business Media, 2005;219-226.
- Referans6 Telegeev GD, Dubrovska AN, Dybkov MV, Maliuta SS. Influence of BCR/ABL fusion proteins on the course of Ph leukemias. Acta Biochim Pol 2004;51(3):845-9.
- Referans7 Müller MC, Saglio G, Lin F, Pfeifer H, Press RD, Tubbs RR, Paschka P, Gottardi E, O'Brien SG, Ottmann OG, Stockinger H, Wieczorek L, Merx K, König H, Schwindel U, Hehlmann R, Hochhaus A. An international study to standardize the detection and quantitation of BCR-ABL transcripts from stabilized peripheral blood preparations by quantitative RT-PCR. Haematologica 2007;92(7):970-3.
- Referans8 Mauté C, Nibourel O, Réa D, Coiteux V, Grardel N, Preudhomme C, Cayuela JM; GBMHM. Calibration of BCR-ABL1 mRNA quantification methods using genetic reference materials is a valid strategy to report results on the international scale. Clin Biochem 2014;47(13-14):1333-6.
- Referans9 Moore FR, Rempfer CB, Press RD. Quantitative BCR-ABL1 RQ-PCR Fusion Transcript Monitoring in Chronic Myelogenous Leukemia. Methods Mol Biol 2013;999:1-23.
- Referans10 Yaghmaie M, Ghaffari SH, Ghavamzadeh A, et al. Frequency of BCR-ABL Fusion Transcripts in Iranian Patients with Chronic Myeloid Leukemia. Arch Iranian Med 2008;11(3):247 –251.
- Referans11 Hickey FB, Cotter TG. Identification of transcriptional targets associated with the expression of p210 Bcr-Abl. Eur J Haematol 2006;76:369–383.
Details
| Journal Section | Articles |
|---|---|
| Authors | |
| Publication Date | October 21, 2016 |
| Submission Date | September 4, 2015 |
| Published in Issue | Year 2016 Volume: 30 Issue: 2 |
