Öz
Objective: The aim of this study is to investigate rearrangements at the region of MYC gene by conventional cytogenetics and interphase FISH methods in patients with acute lymphoblastic leukemia (ALL).Methods: The study was carried out on bone marrow specimens of 25 ALL patients who were referred to our laboratory. Fourteen children and 11 adult ALL cases were examined. Conventional cytogenetic analysis was performed using G banding technique and fluorescence in situ hybridization technique was applied using MYC breakapart probe (Cytocell).Results: Totally, in 2 of 25 cases available metaphases were not obtained. While in 9 of 23 cases were found to have normal karyotype (39.1%), numerical chromosomal abnormalities were detected in 6 cases, structural abnormalities in 4 and both numerical and structural abnormalities were found in 4 cases.In one case (4%) t(8;14)(q24;q32) was found as a cytogenetic aberration in which MYC gene locus involved. FISH analysis was performed successfully in all cases and MYC rearrangements were found in 3 cases (12%) by FISH method.Conclusion: By comparing two techniques, it was observed that FISH method showed more sensitivity, however conventional cytogenetic techniques were also effective to reveal all changes of the chromosomes. Therefore, we concluded that it would be more efficient to use of these two techniques together. J Clin Exp Invest 2015; 6 (1): 21-26
Anahtar Kelimeler
Acute lymphoblastic leukemia MYC cytogenetics fluorescent ın situ hybridization
Kaynakça
- Bassan R, Gatta G, Tondini C, Willemze R. Adult acute
- lymphoblastic leukaemia. Crit Rev Oncol Hematol
- ;50:223-261.
- Başlar Z. Erişkinlerde Akut Lösemiler. Hematolog olmayanlar
- için hematolojik maligniteler. İstanbul Üniversitesi
- Sürekli Tıp Eğitimi Etkinlikleri Sempozyum Dizisi
- ;45:171-180.
- Harrison CJ. Acute lymphoblastic leukemia. Clin Lab
- Med 2011;31:631-647.
- Harrison CJ, Johansson B. Acute Lymphoblastic Leukemia.
- Heim S, Mitelman F. (eds). In Cancer Cytogenetics.
- rd edn. New Jersey: Wiley-Blackwell,
- ;233-296.
- Kebriaei P, Anastasi J, Larson R.A. Acute lymphoblastic
- leukaemia: diagnosis and classification. Best Pract
- Res Clin Haematol 2002;15:597-621.
- Faderi S, O’Brien S, Pui CH, et al. Adult acute lymphoblastic
- leukemia: concepts and strategies. Cancer
- ;116:1165-1176.
- Durak AB, Saydam G. Akut lenfoblastik lösemi: Sitogenetik
- incelemeler ve klinik önemi. Türkiye Klinikleri J
- Hem Onc-Special topics 2010;3:85-91.
- Boxer LM, Dang CV. Translocations involving c-myc
- and c-myc function. Oncogene 2001;20:5595-5610.
- Delgado MD, León J. Myc roles in hematopoiesis and
- leukemia. Genes Cancer 2010;1:605-616.
- Onciu M. Acute lymphoblastic leukemia. Hematol Oncol
- Clin North Am 2009;23:655-674.
- Soysal Y, Bahçe M, Yakıcıer M.C, et al. Lösemilerin
- genetik tanısında sitogenetik ve floresan in situ hibridizasyon
- yöntemlerinin etkinliğinin değerlendirilmesi.
- Kocatepe Tıp Dergisi 2009;10:41-47.
- Shaffer L.G, McGowan-Jordan J, Schimid M (eds).
- ISCN(2013): An International System for Human Cytogenetic
- Nomenclature. Basel: Karger, 2013;39-120.
- Ventura R.A, Martin-Subero J.I, Jones M, et al. FISH
- analysis for the detection of lymphoma-associated
- chromosomal abnormalities in routine paraffin-embedded
- tissue. J Mol Diagn 2006;8:141-151.
- Gmidène A, Sennana H, Elghezal H, et al. Cytogenetic
- analysis of 298 newly diagnosed cases of acute
- lymphoblastic leukaemia in Tunisia. Hematol Oncol
- ;26:91-97.
- Gil EA, Lajus TBP, de Moura TMO, et al. Banding cytogenetic
- analysis in pediatric patients with acute lymphoblastic
- leukemia (ALL) in a Brazilian population.
- Mol Cytogenetics 2013;6:37.
- Mazloumi S.H.M, Madhumathi D.S, Appaji L, Prasannakumari.
- Combined Study of Cytogenetics and
- Fluorescence in Situ Hybridization (FISH) Analysis
- in Childhood Acute Lymphoblastic Leukemia (ALL) in
- a Tertiary Cancer Centre in South India. Asian Pac J
- Cancer Prev 2012;13:3825-3827.
- Silva ML, Ornellas de Souza MH, Ribeiro RC, et al.
- Cytogenetic analysis of 100 consecutive newly diagnosed
- cases of acute lymphoblastic leukemia in Rio
- de Janeiro. Cancer Genet Cytogenet 2002;137:85-90.
- Settin A, Al Haggar M, Al Dosoky T, et al. Prognostic
- Cytogenetic Markers in Childhood Acute Lymphoblastic
- Leukemia. Indian J Pediatr 2007;74:255-263.
- Shaikh MS, Sarwer AS, Khurshid M, Fadoo Z. Chromosomal
- abnormalities in Pakistani children with
- acute lymphoblastic leukemia. Asian Pac J Cancer
- Prev 2014;15:3907-3909.
- Safaei A, Shahryari J, Farzaneh M.R, et al. Cytogenetic
- findings of patients with acute lymphoblastic leukemia
- in Fars Province. Iran J Med Sci 2013;38:301-
- -
- Li X, Li J, Hu J, et al. A comprehensive cytogenetic
- classification of 1466 Chinese patients with de novo
- acute lymphoblastic leukemia. Leukemia Research
- ;36:720-726.
- Andreasson P, Höglund M, Békássy AN, et al. Cytogenetic
- and FISH studies of a single center consecutive
- series of 152 childhood acute lymphoblastic leukemias.
- Eur J Haematol 2000;65:40-51.
- Jarosova M, Holzerova M, Mihal V, et al. Complex
- karyotypes in childhood acute lymphoblastic leukemia:
- cytogenetic and molecular cytogenetic study of
- cases. Cancer Genet Cytogenet 2003;145:161-168.
Akut lenfoblastik lösemili hastalarda MYC gen bölgesindeki yeniden düzenlenmelerin konvansiyonel sitogenetik ve floresan in situ hibridizasyon yöntemleriyle incelenmesi
Öz
Amaç: Bu çalışmada akut lenfoblastik lösemili (ALL) hastalarda MYC gen bölgesindeki yeniden düzenlenmelerin konvansiyonel sitogenetik ve interfaz FISH yöntemleriyle incelenmesi amaçlanmıştır. Yöntemler: Çalışma, ALL tanısıyla laboratuvarımıza gönderilen 25 olgudan alınan kemik iliği örneğinde gerçekleştirildi. On dört çocukluk çağı ve 11 yetişkin ALL hastası incelendi. Konvansiyonel sitogenetik inceleme için G bantlama yöntemi, Floresan in situ hibridizasyon (FISH) yöntemi için MYC breakapart probu (Cytocell) kullanıldı. Bulgular: Toplam 25 olgunun 2’sinde (%8) değerlendirilebilecek metafaz elde edilemedi. Kromozom analizi ger- çekleştirilen 23 olgunun 9’unda (%39,1) normal karyotip saptanırken, 6 olguda kromozom sayı anomalileri, 4 olguda yapı ve 4 olguda ise hem sayı hem de yapı anomalileri gözlendi. MYC gen bölgesini içine alan tek sitogenetik anomali olarak bir olguda (%4) t(8;14)(q24;q32) saptandı. Olguların tümünde FISH analizinden sonuç alındı ve 3 olguda (%12) MYC bölgesinde FISH yöntemi ile yeniden düzenlenme olduğu gösterildi. Sonuç: İki yöntem karşılaştırıldığında MYC gen bölgesinin yeniden düzenlenmelerinin gösterilmesinde FISH yönteminin daha duyarlı olduğu, ancak konvansiyonel sitogenetik yöntemlerin de kromozomlarda meydana gelen tüm değişimlerin ortaya konmasında etkili olduğu gözlendi. Bu nedenle tek bir anomali araştırılan durumlarda dahi iki yöntemin birlikte kullanımının daha etkili olacağı sonucuna varıldı. Anahtar kelimeler: Akut lenfoblastik lösemi, MYC, sitogenetik, floresan in situ hibridizasyon
Anahtar Kelimeler
Akut lenfoblastik lösemi MYC sitogenetik floresan in situ hibridizasyon
Kaynakça
- Bassan R, Gatta G, Tondini C, Willemze R. Adult acute
- lymphoblastic leukaemia. Crit Rev Oncol Hematol
- ;50:223-261.
- Başlar Z. Erişkinlerde Akut Lösemiler. Hematolog olmayanlar
- için hematolojik maligniteler. İstanbul Üniversitesi
- Sürekli Tıp Eğitimi Etkinlikleri Sempozyum Dizisi
- ;45:171-180.
- Harrison CJ. Acute lymphoblastic leukemia. Clin Lab
- Med 2011;31:631-647.
- Harrison CJ, Johansson B. Acute Lymphoblastic Leukemia.
- Heim S, Mitelman F. (eds). In Cancer Cytogenetics.
- rd edn. New Jersey: Wiley-Blackwell,
- ;233-296.
- Kebriaei P, Anastasi J, Larson R.A. Acute lymphoblastic
- leukaemia: diagnosis and classification. Best Pract
- Res Clin Haematol 2002;15:597-621.
- Faderi S, O’Brien S, Pui CH, et al. Adult acute lymphoblastic
- leukemia: concepts and strategies. Cancer
- ;116:1165-1176.
- Durak AB, Saydam G. Akut lenfoblastik lösemi: Sitogenetik
- incelemeler ve klinik önemi. Türkiye Klinikleri J
- Hem Onc-Special topics 2010;3:85-91.
- Boxer LM, Dang CV. Translocations involving c-myc
- and c-myc function. Oncogene 2001;20:5595-5610.
- Delgado MD, León J. Myc roles in hematopoiesis and
- leukemia. Genes Cancer 2010;1:605-616.
- Onciu M. Acute lymphoblastic leukemia. Hematol Oncol
- Clin North Am 2009;23:655-674.
- Soysal Y, Bahçe M, Yakıcıer M.C, et al. Lösemilerin
- genetik tanısında sitogenetik ve floresan in situ hibridizasyon
- yöntemlerinin etkinliğinin değerlendirilmesi.
- Kocatepe Tıp Dergisi 2009;10:41-47.
- Shaffer L.G, McGowan-Jordan J, Schimid M (eds).
- ISCN(2013): An International System for Human Cytogenetic
- Nomenclature. Basel: Karger, 2013;39-120.
- Ventura R.A, Martin-Subero J.I, Jones M, et al. FISH
- analysis for the detection of lymphoma-associated
- chromosomal abnormalities in routine paraffin-embedded
- tissue. J Mol Diagn 2006;8:141-151.
- Gmidène A, Sennana H, Elghezal H, et al. Cytogenetic
- analysis of 298 newly diagnosed cases of acute
- lymphoblastic leukaemia in Tunisia. Hematol Oncol
- ;26:91-97.
- Gil EA, Lajus TBP, de Moura TMO, et al. Banding cytogenetic
- analysis in pediatric patients with acute lymphoblastic
- leukemia (ALL) in a Brazilian population.
- Mol Cytogenetics 2013;6:37.
- Mazloumi S.H.M, Madhumathi D.S, Appaji L, Prasannakumari.
- Combined Study of Cytogenetics and
- Fluorescence in Situ Hybridization (FISH) Analysis
- in Childhood Acute Lymphoblastic Leukemia (ALL) in
- a Tertiary Cancer Centre in South India. Asian Pac J
- Cancer Prev 2012;13:3825-3827.
- Silva ML, Ornellas de Souza MH, Ribeiro RC, et al.
- Cytogenetic analysis of 100 consecutive newly diagnosed
- cases of acute lymphoblastic leukemia in Rio
- de Janeiro. Cancer Genet Cytogenet 2002;137:85-90.
- Settin A, Al Haggar M, Al Dosoky T, et al. Prognostic
- Cytogenetic Markers in Childhood Acute Lymphoblastic
- Leukemia. Indian J Pediatr 2007;74:255-263.
- Shaikh MS, Sarwer AS, Khurshid M, Fadoo Z. Chromosomal
- abnormalities in Pakistani children with
- acute lymphoblastic leukemia. Asian Pac J Cancer
- Prev 2014;15:3907-3909.
- Safaei A, Shahryari J, Farzaneh M.R, et al. Cytogenetic
- findings of patients with acute lymphoblastic leukemia
- in Fars Province. Iran J Med Sci 2013;38:301-
- -
- Li X, Li J, Hu J, et al. A comprehensive cytogenetic
- classification of 1466 Chinese patients with de novo
- acute lymphoblastic leukemia. Leukemia Research
- ;36:720-726.
- Andreasson P, Höglund M, Békássy AN, et al. Cytogenetic
- and FISH studies of a single center consecutive
- series of 152 childhood acute lymphoblastic leukemias.
- Eur J Haematol 2000;65:40-51.
- Jarosova M, Holzerova M, Mihal V, et al. Complex
- karyotypes in childhood acute lymphoblastic leukemia:
- cytogenetic and molecular cytogenetic study of
- cases. Cancer Genet Cytogenet 2003;145:161-168.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Araştırma Yazısı |
| Yazarlar | |
| Yayımlanma Tarihi | 10 Mayıs 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 6 Sayı: 1 |