UNLABELLED: We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RAR alpha) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RAR alpha fusion transcript. CONCLUSION: This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RAR alpha-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
UNLABELLED: We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RAR alpha) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RAR alpha fusion transcript. CONCLUSION: This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RAR alpha-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
Authors: A Cantú-Rajnoldi; A Biondi; M Jankovic; G Masera; A Rovelli; C Uderzo; D Head; S Raimondi; V Creutzig; J Ritter Journal: Blood Date: 1993-04-15 Impact factor: 22.113
Authors: L Longo; E Donti; A Mencarelli; G Avanzi; L Pegoraro; G Alimena; A Tabilio; G Venti; F Grignani; P G Pelicci Journal: Oncogene Date: 1990-10 Impact factor: 9.867
Authors: P Fenaux; M C Le Deley; S Castaigne; E Archimbaud; C Chomienne; H Link; A Guerci; M Duarte; M T Daniel; D Bowen Journal: Blood Date: 1993-12-01 Impact factor: 22.113
Authors: L Longo; P P Pandolfi; A Biondi; A Rambaldi; A Mencarelli; F Lo Coco; D Diverio; L Pegoraro; G Avanzi; A Tabilio Journal: J Exp Med Date: 1990-12-01 Impact factor: 14.307