Abstract
Acute megakaryoblastic leukaemia (AML-M7) is an uncommon disease, composing 0.5–1.2% of newly diagnosed adult acute myeloid leukaemias (AML). It is characterised by higher incidence and complexity of cytogenetic abnormalities. We report a rare case of Philadelphia (Ph) chromosome-positive AML-M7, presenting with extreme thrombocytosis and having a poor outcome. The diagnosis was established on the basis of morphological and flow cytometry data for megakaryoblastic proliferation in the bone marrow. Cytogenetics revealed 47,XX,+8,t(9;22)(q34;q11), and p190BCR-ABL-rearrangement was detected. MDR1-gene overexpression was not demonstrated; however, the patient was resistant to therapy and died in 6 months. The reported case contributes to the overt heterogeneity of Ph-positive AMLs, which warrants further investigation and understanding.
Similar content being viewed by others
References
Borek C, Guernsey DL, Ong A, Edelman IS (1983) Critical role played by thyroid hormone in induction of neoplastic transformation by chemical carcinogens in tissue culture. Proc Natl Acad Sci USA 80:5749–5752
Cuneo A, Ferrant A, Michaux JL, Demuynck H, Boogaerts M, Louwagie A, Doyen C, Stul M, Cassiman JJ, Dal Cin P, Castoldi G, Van den Berghe H (1996) Philadelphia chromosome-positive acute myeloid leukemia: cytoimmunologic and cytogenetic features. Haematologica 81:423–427
Dastugue N, Lafage-Pochitaloff M, Pagès M-P, Radford I, Bastard C, Talmant P, Mozziconacci MJ, LéonardC, Bilhou-Nabéra C, Cabrol C, Capodano A-M, Cornillet-Lefebvre P, Lessard M, Mugneret F, Pérot C, Taviaux S, Fenneteaux O, Duchayne E, Berger R, on behalf of the Groupe Français de Cytogénétique Hématologique (GFCH) and with the contribution of the Groupe Français d’Hématologie Cellulaire (GFHC) (2002) Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH). Blood 100:618–626
Gassmann W, Loffler H (1995) Acute megakaryoblastic leukemia. Leuk Lymphoma 18:69–73
Jaffe ES, Harris NL, Stein H, Vardiman JW (2001) World Health Organization Classification of Tumours. Pathology and genetics of tumours of the haemopoietic and lymphoid tissues. IARC Press, Lyon, France
Katsuno M, Yamashita S, Sadamura S, Umemura T, Hirata J, Nishimura J, Nawata H (1994) Late-appearing Philadelphia chromosome in a patient with acute nonlymphocytic leukaemia derived from myelodysplastic syndrome: detection of P210- and P190-type bcr/abl fusion gene transcripts at the leukaemic stage. Br J Haematol 87:51–56
Kunieda Y, Okabe M, Kurosawa M, Itaya T, Kakinuma M, Miyazaki T (1994) Chronic myeloid leukemia presenting ALL-type BCR/ABL transcript. Ann Hematol 69:189–193
Lesesve JF, Troussard X, Bastard C, Hurst JP, Nouet D, Callat MP, Lenormand B, Piguet H, Flandrin G, Macintyre E (1996) p190bcr/abl rearrangement in myelodysplastic syndromes: two reports and review of the literature. Br J Haematol 95:372–375
Marie JP, Huet S, Faussat AM, Perrot JY, Chevillard S, Barbu V, Bayle C, Boutonnat J, Calvo F, Campos-Guyotat L, Colosetti P, Cazin JL, de Cremoux P, Delvincourt C, Demur C, Drenou B, Fenneteau O, Feuillard J, Garnier-Suillerot A, Genne P, Gorisse MC, Gosselin P, Jouault H, Lacave R, Robert J, et al (1997) Multicentric evaluation of the MDR phenotype in leukemia. French Network of the Drug Resistance Intergroup, and Drug Resistance Network of Assistance Publique-Hopitaux de Paris. Leukemia 11:1086–1094
Melo J (1996) The diversity of bcr-abl fusion proteins and their relationships to leukemia phenotype. Blood 88:2375–2384
Mrozek K, Heinonen K, Bloomfeld CD (2001) Clinical importance of cytogenetics in acute myeloid leukaemia. Best Pract Res Clin Haematol 14:19–47
Pagano L, Pulsoni A, Vignetti M, Mele L, Fianchi L, Petti MC, Mirto S, Falcucci P, Fazi P, Broccia G, Specchia G, Di Raimondo F, Pacilli L, Leoni P, Ladogana S, Gallo E, Venditti A, Avanzi G, Camera A, Liso V, Leone G, Mandelli F; GIMEMA (2002) Acute megakaryoblastic leukemia: experience of GIMEMA trials. Leukemia 16:1622–1626
Paietta E, Racevskis J, Bennett JM, Neuberg D, Cassileth PA, Rowe JM, Wiernik PH (1998) Biologic heterogeneity in Philadelphia chromosome-positive acute leukemia with myeloid morphology: the Eastern Cooperative Oncology Group experience. Leukemia 12:1881–1885
Peterson BA, Levine EG (1987) Uncommon subtypes of acute non-lymphocytic leukemia. Clinical features and management of FAB M5, M6 and M7. Semin Oncol 14:425–435
Ribeiro RC, Oliveira MS, Fairclough D, Hurwitz C, Mirro J, Behm FG, Head D, Silva ML, Raimondi SC, Crist WM, et al (1993) Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases. Leuk Lymphoma 10:299–306
Roumier C, Daudignon A, Soenen V, Dupriez B, Wetterwald M, Lai JL, Cosson A, Fenaux P, Preudhomme C (1999) P190 bcr-abl rearrangement: a secondary cytogenetic event in some chronic myeloid disorders? Haematologica 84:1075–1080
Tallman MS, Neuberg D, Bennett JM, Francois CJ, Paietta E, Wiernik PH, Dewald G, Cassileth PA, Oken MM, Rowe JM (2000) Acute megakaryocytic leukemia: the Eastern Cooperative Oncology Group experience. Blood 96:2405–2411
van Dongen JJ, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G, Gottardi E, Rambaldi A, Dotti G, Griesinger F, Parreira A, Gameiro P, Diaz MG, Malec M, Langerak AW, San Miguel JF, Biondi A (1999) Standardised RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 concerted action: investigation of minimal residual disease in acute leukemia. Leukemia 13:1901–1928
Vandenberghe E, Martiat P, Baens M, Stul M, Ferrant A, Cuneo A, Cassiman JJ, Mecucci C, Van den Berghe H (1991) Megakaryoblastic leukemia with an N-ras mutation and late acquisition of a Philadelphia chromosome. Leukemia 5:683–686
Veelken H, Licht T, Lais A, Kohler G, Mertelsmann R, Schaefer HE, Lubbert M (1998) Drug resistance of secondary acute myeloid leukemia with megakaryoblastic features and p190 BCR-ABL rearrangement. Leuk Res 22:1021–1027
Acknowledgements
All authors contributed equally to this work. We thank Dr. Angel Stoimenov, Krassimira Boikova and Antonia Georgieva for their excellent assistance. The study was supported by a grant from the Ministry of Education and Science, Bulgaria.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Balatzenko, G., Guenova, M., Zechev, J. et al. Acute megakaryoblastic leukaemia with extreme thrombocytosis and p190bcr/ablrearrangement. Ann Hematol 83, 381–385 (2004). https://doi.org/10.1007/s00277-003-0783-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-003-0783-1