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Acute myeloblastic leukemia (AML) with inv (16)(p13;q22) and the rare I type CBFβ-MYH11 transcript: report of two new cases

Leukemia volume 16, pages 150–151 (2002)Cite this article

Inv(16)(p13;q22) or t(16;16)(p13;q22) is one of the most frequent recurring chromosomal rearrangements detected in AML, generally observed in cases showing myelo-monocytic differentiation and having abnormal bone marrow eosinophils (M4 Eo AML in the French–American–British (FAB) classification1). This rearrangement results in the disruption of the myosin heavy chain (MYH) gene at 16p13 and the core binding factor β (CBFβ) gene at 16q22.2 Until now, 10 different CBFβ-MYH11 transcripts have been reported3,4,5,6 (A to J), but the frequency of each transcript is variable: 85% for the A type, 5% for each of the D and E types, other rearrangements being rare. Recently, a standardized RT-PCR technique, considered to be able to identify all CBFβ-MYH11 transcripts, has been reported.6

From 1993 to 2001, we analyzed 40 cases of inv(16) by RT-PCR. All 40 cases showed CBFβ-MYH11 rearrangement, which was A type in 36 cases and D type in two cases. In this report, we present the remaining two cases of CBFβ-MYH11 rearrangement, with I type fusion transcript, corresponding to a breakpoint nt 399 (exon 4) of the CBFβ gene and at nt 2134 (exon 13) of the MYH11gene. To date, to our knowledge, only one case of I type transcript had been reported.7

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References

  1. Bennet JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C . Proposals for the classification of the acute leukaemias. French–American–British (FAB) cooperative group Br J Haematol 1976 33: 451–458

    Article  Google Scholar 

  2. Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS . Fusion between transcription factor CBFβ/PEPB2β and a myosin heavy chain in acute myeloid leukemia? Science 1993 261: 1041–1044

    Article  CAS  Google Scholar 

  3. Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carrol AJ, Behm F, Hulshof MG, Motroni TA, Okuda T, Liu P, Collins FS, Downing JR . Heterogeneity in CBFβ-MYH11 fusion messages encoded by the inv(16)(p13;q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia Blood 1995 85: 3695–3370

    CAS  PubMed  Google Scholar 

  4. Van der Reijden BA, Lombardo M, Dauwerse HS, Giles RH, Mulhematter D, Bellomo MJ, Wessels HW, Beverstock GC, Van Ommen GJB, Hagemeijer A, Breuning MH . RT-PCR diagnosis of patients with acute non-lymphocytic leukemia and inv(16)(p13;q22) and identification of new alternative splicing in CBFβ-MYH11 transcripts Blood 1995 86: 277–282

    CAS  PubMed  Google Scholar 

  5. Costello R, Sainty D, Lecine P, Cusenier A, Mozziconacci MJ, Arnoulet C, Maraninchi D, Gastaut JA, Imbert J, Lafage-Pochitaloff M, Gabert J . Detection of CBFβ-MYH11 fusion transcripts in acute myeloid leukemia: heterogeneity of cytological and molecular characteristics Leukemia 1997 11: 644–650

    Article  CAS  Google Scholar 

  6. Van Dongen JJM, Macintyre EA, Gabert JA, Dealabesse E, Rossi V, Saglio G, Gottardi E, Rambaldi A, Dotti G, Griesinger, Parreira A, Gameira P, Gonzalez Diaz M, Malec M, Langerak AW, San Miguel JF, Biondi A . Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease Leukemia 1999 13: 1901–1928

    Article  CAS  Google Scholar 

  7. Dissing M, Lebeau MM, Pedersen-Bjergaard J . Inversion of chromosome 16 and uncommon rearrangements of the CBFβ and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors? J Clin Oncol 1998 16: 1890–1896

    Article  CAS  Google Scholar 

  8. Preudhomme C, Wattel E, Lai JL, Henic N, Meyer L, Noel MP, Cosson A, Jouet JP, Fenaux P . Good predictive value of combined cytogenetic and molecular follow-up chronic myelogenous leukemia after non-T cell-depleted allogenic bone marrow transplantation: a report on 38 consecutive cases Leuk Lymphoma 1995 18: 265–271

    Article  CAS  Google Scholar 

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Acknowledgements

We are indebted to D Talandier, R Coudenis, M Crepin and the Institut Fédératif de Recherche No. 22 (Lille, France) for their excellent technical assistance and support in molecular biology. This work was supported by CHU of Lille (PHRC 1997) The Ligue nationale contre le cancer (Comité du Nord et de l'Aisne) and the Fondation of France (Comité des leucémies)

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Authors and Affiliations

  1. Laboratoire d'Hématologie A, CHU Lille, France

    N Grardel, C Roumier, V Soenen, A Cosson & C Preudhomme

  2. Inserm U524, IRCL, Lille, France

    N Grardel, C Roumier, V Soenen, JL Lai, A Cosson, P Fenaux & C Preudhomme

  3. Service de Génétique médicale, CHU Lille, France

    JL Lai

  4. Service d'Hématologie Clinique, Hôpital de Roubaix, France

    I Plantier

  5. Laboratoire d'Hématologie, Hôpital de Roubaix, France

    C Gheveart

  6. Service des Maladies du sang, CHU Lille, France

    P Fenaux

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Grardel, N., Roumier, C., Soenen, V. et al. Acute myeloblastic leukemia (AML) with inv (16)(p13;q22) and the rare I type CBFβ-MYH11 transcript: report of two new cases. Leukemia 16, 150–151 (2002). https://doi.org/10.1038/sj.leu.2402332

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