Ann Lab Med.  2012 Jul;32(4):316-318. 10.3343/alm.2012.32.4.316.

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance- or Long Distance Inverse-PCR-based Approaches

• Yang JJ
• Marschalek R
• Meyer C
• Park TS

• KMID: 1380095
• DOI: http://doi.org/10.3343/alm.2012.32.4.316

Abstract

No abstract available.

MeSH Terms

Acute Disease
*Gene Rearrangement
Genome, Human
Humans
Leukemia/*diagnosis/genetics
Polymerase Chain Reaction/*methods
Translocation, Genetic

Figure

• 

  Fig. 1 Various diagnostic applications of genomic breakpoint analysis using LD- or LDI-PCR. Abbreviations: LD-PCR, long distance-PCR; LDI-PCR, long distance inverse-PCR.

Reference

1. Tijo JH, Levan A. The chromosome number of man. Hereditas. 1956. 42:1–6.

2. Rowley JD. Chromosomal translocations: revisited yet again. Blood. 2008. 112:2183–2189.

3. Chen J, Odenike O, Rowley JD. Leukaemogenesis: more than mutant genes. Nat Rev Cancer. 2010. 10:23–36.

4. Choi HJ, Kim HR, Shin MG, Kook H, Kim HJ, Shin JH, et al. Spectra of chromosomal aberrations in 325 leukemia patients and implications for the development of new molecular detection systems. J Korean Med Sci. 2011. 26:886–892.

5. Kim MJ, Choi JR, Suh JT, Lee HJ, Lee WI, Park TS. Diagnostic standardization of leukemia fusion gene detection system using multiplex reverse transcriptase-polymerase chain reaction in Korea. J Korean Med Sci. 2011. 26:1399–1400.

6. Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, et al. Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. Proc Natl Acad Sci USA. 2005. 102:449–454.

7. Meyer C, Kowarz E, Hofmann J, Renneville A, Zuna J, Trka J, et al. New insights to the MLL recombinome of acute leukemias. Leukemia. 2009. 23:1490–1499.

8. Lee SG, Park TS, Oh SH, Park JC, Yang YJ, Marschalek R, et al. De novo acute myeloid leukemia associated with t(11; 17)(q23;q25) and MLL-SEPT9 rearrangement in an elderly patient: a case study and review of the literature. Acta Haematol. 2011. 126:195–198.

9. Park TS, Lee ST, Song J, Lee KA, Lee SG, Kim J, et al. MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities. Cancer Genet Cytogenet. 2008. 187:50–53.

10. Park TS, Lee SG, Song J, Lee KA, Kim J, Choi JR, et al. CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia. Cancer Genet Cytogenet. 2009. 195:94–95.

11. Lee SG, Park TS, Won SC, Song J, Lee KA, Choi JR, et al. Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11)(p12;p13.3; q23). Cancer Genet Cytogenet. 2010. 197:32–38.

12. Cho SY, Park TS, Oh SH, Cho EH, Oh D, Huh JY, et al. Genomic analysis of a four-way t(4;11;22;10) associated with MLL-AF4 in an adult acute lymphoblastic leukemia. Ann Hematol. 2012. 91:977–979.

13. Kim MJ, Cho SY, Kim MH, Lee JJ, Kang SY, Cho EH, et al. FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature. Cancer Genet Cytogenet. 2010. 203:278–283.

14. Lim G, Cho EH, Cho SY, Shin SY, Park JC, Yang YJ, et al. A novel PML-ADAMTS17-RARA gene rearrangement in a patient with pregnancy-related acute promyelocytic leukemia. Leuk Res. 2011. 35:e106–e110.

15. Yang JJ, Park TS, Choi JR, Park SJ, Cho SY, Jun KR, et al. Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study. Acta Haematol. 2012. 127:119–123.

16. Meyer C, Brieger A, Plotz G, Weber N, Passmann S, Dingermann T, et al. An interstitial deletion at 3p21.3 results in the genetic fusion of MLH1 and ITGA9 in a Lynch syndrome family. Clin Cancer Res. 2009. 15:762–769.

17. Cin H, Meyer C, Herr R, Janzarik WG, Lambert S, Jones DT, et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol. 2011. 121:763–774.

18. Burmeister T, Marschalek R, Schneider B, Meyer C, Gökbuget N, Schwartz S, et al. Monitoring minimal residual disease by quantification of genomic chromosomal breakpoint sequences in acute leukemias with MLL aberrations. Leukemia. 2006. 20:451–457.