Acute promyelocytic leukemia with trisomy 8 showing normal PML-RARA FISH signal patterns: Diagnostic application of long-distance polymerase chain reaction in molecularly discrepant leukemia cases

Annals of Hematology

Volumn 91, Issue 10, 2012, Pages 1645-1648

  Yang, John Jeongseok ^a   Park, Tae Sung ^a   Kim, Min Jin ^a   Cho, Eun Hae ^b   Oh, Seung Hwan ^c   Jeon, Byung Ryul ^d   Oh, Doyeun ^e   Huh, Ji Young ^e   Marschalek, Rolf ^f   Meyer, Claus ^f  

^a Kyung Hee University Hospital   (South Korea)

^b Green Cross Reference Laboratory   (South Korea)

^c Inje University   (South Korea)

^d Soonchunhyang University   (South Korea)

^e CHA University   (South Korea)

^f GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CD33 ANTIGEN; HEMOGLOBIN; MICROSOMAL AMINOPEPTIDASE; PROMYELOCYTIC LEUKEMIA PROTEIN; RETINOIC ACID;

ADULT; ANTIGEN EXPRESSION; BLASTOCYTE; BLOOD CELL COUNT; BONE MARROW EXAMINATION; CASE REPORT; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC ASSOCIATION; HUMAN; IMMUNOPHENOTYPING; LETTER; LEUKOCYTE COUNT; MALE; MOLECULAR DYNAMICS; MULTIPLEX POLYMERASE CHAIN REACTION; ONCOGENE; PML GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMYELOCYTE; PROMYELOCYTIC LEUKEMIA; RARA GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THROMBOCYTE COUNT; TRISOMY 8;

CYTOGENETICS; FEMALE; GENE REARRANGEMENT; HUMANS; MALE; ONCOGENE PROTEINS, FUSION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84867334446     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-012-1439-9     Document Type: Letter

References (14)

1. Kim MJ, Cho SY, Kim MH, Lee JJ, Kang SY, Cho EH, Huh J, Yoon HJ, Park TS, Lee WI, Marschalek R, Meyer C (2010) FISHnegative cryptic PML-RARA rearrangement detected by longdistance polymerase chain reaction and sequencing analyses: a case study and review of the literature. Cancer Genet Cytogenet 203:278-283
2. Lee EY, Park TS, Kim MJ, Chang MH, Cho EH, Park SJ, Choi JR, Yoo JH (2012) Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series. Ann Hematol. doi:10.1007/s00277-011-1366-1
3. Kim MJ, Choi JR, Suh JT, Lee HJ, Lee WI, Park TS (2011) Diagnostic standardization of leukemia fusion gene detection system using multiplex reverse transcriptase-polymerase chain reaction in Korea. J Korean Med Sci 26:1399-1400
4. Han JY, Kim KE, Kim KH, Park JI, Kim JS (2007) Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH. Leuk Res 31:239-243
5. Kim M, Lim J, Kim Y, Han K, Lee DH, Chung NG, Cho B, Kim HK, Eom KS, Min CK, Min WS (2008) The genetic characterization of acute promyelocytic leukemia with cryptic t(15;17) including a new recurrent additional cytogenetic abnormality i(17)(q10). Leukemia 22:881-883
6. Huh J, Moon H, Chi H, Chung W (2009) Acute promyelocytic leukemia with i(17)(q10) on G-banding and PML/RARA rearrangement by RT-PCR without evidence of PML/RARA rearrangement on FISH. Int J Lab Hematol 31:372-374
7. Kim KE, Woo KS, Kim SH, Han JY (2009) Detection of PML/RARA rearrangement by reverse transcriptase-PCR and sequencing in a case of microgranular acute promyelocytic leukemia lacking t(15;17) on karyotype and FISH. Korean J Lab Med 29:379-383
8. Lewis C, Patel V, Abhyankar S, Zhang D, Ketterling RP, McClure RF, Persons DL (2011) Microgranular variant of acute promyelocytic leukemia with normal conventional cytogenetics, negative PML/RARA FISH and positive PML/RARA transcripts by RTPCR. Cancer Genet 204:522-523
9. Yang JJ, Marschalek R, Meyer C, Park TS (2012) Diagnostic usefulness of genomic breakpoint analysis in various gene rearrangements of acute leukemias: a perspective of LD- or LDI-PCR based approaches. Ann Lab Med (in press)
10. Yang JJ, Park TS, Choi JR, Park SJ, Cho SY, Jun KR, Kim HR, Lee JN, Oh SH, Lee S, Kim B, Marschalek R, Meyer C (2012) Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2- FGFR1 rearrangements: a case study. Acta Haematol 127:119-123
11. Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, Wallis J, Chen K, Payton JE, Fulton RS, Veizer J, Schmidt H, Vickery TL, Heath S, Watson MA, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Ley TJ, Wilson RK (2011) Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 305:1577-1584
12. Lim G, Cho EH, Cho SY, Shin SY, Park JC, Yang YJ, Oh SH, Marschalek R, Meyer C, Park TS (2011) A novel PMLADAMTS17- RARA gene rearrangement in a patient with pregnancy-related acute promyelocytic leukemia. Leuk Res 35: e106-e110
13. Cho SY, Park TS, Oh SH, Cho EH, Oh D, Huh JY, Marschalek R, Meyer C (2012) Genomic analysis of a four-way t(4;11;22;10) associated with MLL-AF4 in an adult acute lymphoblastic leukemia. Ann Hematol. doi:10.1007/s00277-011-1364- 3
14. Lee SG, Park TS, Won SC, Song J, Lee KA, Choi JR, Marschalek R, Meyer C (2010) 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 197:32-38