Abstract
Amaç: Lösemik hücrelerin sitogenetik özelliklerinin akut lenfoblastik lösemi (ALL) tanı, sınıflama ve prognozunda büyük önemi vardır. Bu çalışmada Şanlıurfa bölgesindeki ALL’li çocuk hastaların sitogenetik sonuçlarını araştırdık.Materyal Metod: Şanlıurfa Harran Üniversitesi Tıp Fakültesi Çocuk Hematoloji kliniğinde Ekim 2010-Şubat 2012 tarihleri arasında yeni tanı alan ortalama 5.7 yaşında (aralık: 1.5-15.8 yıl) 27 ALL’li çocuk (17 erkek, 10 kız) hasta çalışmaya alındı. Kemik iliği örnekleri havayolu ile İstanbul’daki sitogenetik laboratuvarına ulaştırıldı.Karyotip analizi uyarılmamış kemik iliği kültürü ile GTL/<400-bantlama seviyesi; translokasyon çalışmalarında ise t(12;21) RT-PCR, t(12;21) FISH, t(9;22) RT-PCR, t(9;22) FISH,t(1;19) FISH, t(4;11) FISH, t(9;11) FISH, t(11;19) FISH çalışıldı.Sonuçlar: 27 hastanın karyotip çalışması neticesinde 3 (%14.3) vakada kompleks karyotip anomalisi, 1 (%11.1) vakada hiperdiploidi, 2 (%7.4) vakada yüksek hiperdiploidi, 1 (%3.7) vakada hipodiploidi, 14 (%51.8) vakada normal karyotip, 3 vakada ‘metafaza rastlanmadı’, 3 vakada ise ‘örnek yetersizliği nedeniyle çalışma yapılamadı’ şeklinde sonuçlar elde edildi. Moleküler sitogenetik çalışmalarda RT-PCR ile yapılan 61 testten 5’inde (%8,2) pozitiflik, 124 FISH çalışmasının ise 2’sinde (%1.6) pozitiflik saptandı. Pozitif RT-PCR testlerinden birinde t(12;21), ikisinde t(9;22), ikisinde ise t(1;19) saptandı. FISH pozitif olan vakalar ise t(12;21) olarak saptandı. t(9;22) FISH, t(4;11) FISH, t(9;11) FISH, t(11;19), t(1;19) FISH translokasyonları hiçbir vakada saptanmadı. 11 FISH çalışması incelemeye uygun hücre bulunamadığından analiz sonuçlandırılamadı, 16 moleküler test ise istem yapılmadığı için çalışılamadı.Sonuç: Kemik iliği örneklerinin sitogenetik incelemelerinde en önemli problem çalışmalarda inceleme için uygun metafaz veya hücreye rastlanamaması ya da örnek yetersizliği olarak bulunmuştur.
Keywords
References
- Mrózek K, Harper DP, Aplan PD. Cytogenetics and molecular gene- tics of acute lymphoblastic leukemia. Hematol Oncol Clin North Am 2009;23(5):991-1010.
- Wells SJ, Phillips CN, Farhi DC. Detection of BCRabl in Acu- te Leukemia by Molecular and Cytogenetic Methods. Mol Diagn 1996;1(4);305-13.
- Schwab C, Harrison CJ. Acute lymphoblastic leukaemia. Methods Mol Biol 2011;730:99-117.
- Pui CH, Relling MV, Sandlund JT, Downing JR, Campana D, Evans WE. Rationale and design of Total Therapy Study XV for newly diagnosed childhood acute lymphoblastic leukemia. Ann Hematol 2004;83 Suppl 1:S124-6.
- Jiang H, Xue Y, Wang Q, Pan J, Wu Y, Zhang J, et al. The utility of fluorescence in situ hybridization analysis in diagnosing myelodys- plastic syndromes is limited to cases with karyotype failure. Leuk Res 2012;36(4):448-52.
- Testa JR, Mintz U, Rowley JD, Vardiman JW, Golomb HM. Evolu- tion of karyotypes in acute nonlymphocytic leukemia. Cancer Res 1979;39(9):3619-27.
- Bricarelli FD, Hastings RJ, Kristoffersson U, Cavani S (Co- ordinators). Cytogenetic Guidelines and Quality Assurance http:// www.biologia.uniba.it/eca/NEWSLETTER/NS-17/Guidelines. pdf.
- Kowalczyk JR, Babicz M, Gaworczyk A, Lejman M, Winnicka D, Styka B, et al. Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrange- ments detected by comparative genomic hybridization in child- hood acute lymphoblastic leukemia. Cancer Genet Cytogenet 2010;200(2):161-6.
- Soysal Y, Bahçe M, Yakıcıer MC, İrfan A, Kürekçi AE. Lösemilerin Genetik Tanısında Sitogenetik ve Floresan In Situ Hibridizasyon Yöntemlerinin Etkinliğinin Değerlendirilmesi. Kocatepe Tıp Der- gisi 2009;10(1-2-3):41-7.
- Najfeld V. Conventional and Molecular Cytogenetic Basis of He- matologic Malignancies In: Hoffman R, Hoffbrand AV, Furie B (Eds). Hoffman: Hematology: Basic Principles and Practice, 5th ed. Saunders, Chapter 55, pp 823.
- Al-Bahar S, Zámecníkova A, Pandita R. Frequency and type of chromosomal abnormalities in childhood acute lymphoblastic leu- kemia patients in Kuwait: a six-year retrospective study. Med Princ Pract 2010;19(3):176-81.
Abstract
Objective: The analysis of cytogenetic features of the leukaemic cells has great importance for the diagnosis, classification, and prognosis of acute lymphoblastic leukemia (ALL). In this study, the results of cytogenetic studies for childhood ALL was investigated at Sanliurfa province.Materials and Methods: Twenty-seven (17 male, 10 female) children with the mean age of 5.7 years (range 1.5-15.8 years) diagnosed as ALL at Harran University Medical Faculty Pediatric Hematology Clinic between September 2010 and February 2012 were included in this study. Bone marrow samples were transported by airway to cytogenetic laboratory in İstanbul. Karyotype analysis of non-stimulated bone marrow was performed at GTL/<400-band level and t(12;21) and t(9;22) were studied by RT-PCR; t(12;21), t(9;22), t(1;19), t(4;11), t(9;11), and t(11;19) were studied by FISH in bone marrow samples. Results: Of these karyotype analysis of 27 patients, 3 (11.1%) had complex karyotype anomalies, 1 (3.7%) had hyperdiploidy, 2 (7.5%) had high hyperdiploidy, 1 (3.7%) had hypodiploidy, 14 (51.8%) had normal kaypotype, 3 (11.1%) had no metaphase, and 3 (%11.1) samples were not studied because of insufficient samples. Molecular analysis of translocations revealed that 5 (8.2%) of 61 samples studied by RT-PCR and 2 (1.6%) of 124 samples studied by FISH were positive. Among 5 RT-PCR positive cases, 1 was positive for t(12;21); 2, positive for t(9;22); and 2, positive for t(1;19). Two FISH positive cases showed t(12;21). The other translocations including t(9;22), t(4;11), t(9;11), t(11;19), and t(1;19) studied by FISH were all negative. Eleven samples were inconvenient for FISH study and 16 samples were not studied for other reasons.Conclusion: In conclusion, the major challenge in this study is the lack of sufficient metaphase or cells on bone marrow samples and/or insufficient samples
References
- Mrózek K, Harper DP, Aplan PD. Cytogenetics and molecular gene- tics of acute lymphoblastic leukemia. Hematol Oncol Clin North Am 2009;23(5):991-1010.
- Wells SJ, Phillips CN, Farhi DC. Detection of BCRabl in Acu- te Leukemia by Molecular and Cytogenetic Methods. Mol Diagn 1996;1(4);305-13.
- Schwab C, Harrison CJ. Acute lymphoblastic leukaemia. Methods Mol Biol 2011;730:99-117.
- Pui CH, Relling MV, Sandlund JT, Downing JR, Campana D, Evans WE. Rationale and design of Total Therapy Study XV for newly diagnosed childhood acute lymphoblastic leukemia. Ann Hematol 2004;83 Suppl 1:S124-6.
- Jiang H, Xue Y, Wang Q, Pan J, Wu Y, Zhang J, et al. The utility of fluorescence in situ hybridization analysis in diagnosing myelodys- plastic syndromes is limited to cases with karyotype failure. Leuk Res 2012;36(4):448-52.
- Testa JR, Mintz U, Rowley JD, Vardiman JW, Golomb HM. Evolu- tion of karyotypes in acute nonlymphocytic leukemia. Cancer Res 1979;39(9):3619-27.
- Bricarelli FD, Hastings RJ, Kristoffersson U, Cavani S (Co- ordinators). Cytogenetic Guidelines and Quality Assurance http:// www.biologia.uniba.it/eca/NEWSLETTER/NS-17/Guidelines. pdf.
- Kowalczyk JR, Babicz M, Gaworczyk A, Lejman M, Winnicka D, Styka B, et al. Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrange- ments detected by comparative genomic hybridization in child- hood acute lymphoblastic leukemia. Cancer Genet Cytogenet 2010;200(2):161-6.
- Soysal Y, Bahçe M, Yakıcıer MC, İrfan A, Kürekçi AE. Lösemilerin Genetik Tanısında Sitogenetik ve Floresan In Situ Hibridizasyon Yöntemlerinin Etkinliğinin Değerlendirilmesi. Kocatepe Tıp Der- gisi 2009;10(1-2-3):41-7.
- Najfeld V. Conventional and Molecular Cytogenetic Basis of He- matologic Malignancies In: Hoffman R, Hoffbrand AV, Furie B (Eds). Hoffman: Hematology: Basic Principles and Practice, 5th ed. Saunders, Chapter 55, pp 823.
- Al-Bahar S, Zámecníkova A, Pandita R. Frequency and type of chromosomal abnormalities in childhood acute lymphoblastic leu- kemia patients in Kuwait: a six-year retrospective study. Med Princ Pract 2010;19(3):176-81.
Details
| Other ID | JA63HU94EF |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | April 1, 2012 |
| Submission Date | April 1, 2012 |
| Published in Issue | Year 2012 Volume: 6 Issue: 4 |
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