Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by a platelet count higher than 1000 x 10(9)/l. Bone marrow karyotype aberrations are occasionally observed. The presence of cytogenetic and molecular markers of chronic myeloid leukemia (CML) was assessed in 25 patients with the clinical features of ET. One displayed a complex translocation (9; 15; 22) (q34.1 or q34.3; q26.1; q11), and another a Philadelphia chromosome with standard translocation (9; 22) (q34; q11). Southern blot analysis revealed a rearranged breakpoint cluster region (bcr) in each case. Both patients experienced a stormy disease course without a leukemic transformation. These data indicate that the Philadelphia chromosome rarely occurs in ET and strongly influences patient outcome.

Analysis of the breakpoint cluster region in essential thrombocythemia / P. Corradini, A. P. Palumbo, S. Battaglio, G. Ponzio, M. Boccadoro, A. Pileri. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 75:6(1990 Nov), pp. 573-575.

Analysis of the breakpoint cluster region in essential thrombocythemia

P. Corradini
Primo
;
1990

Abstract

Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by a platelet count higher than 1000 x 10(9)/l. Bone marrow karyotype aberrations are occasionally observed. The presence of cytogenetic and molecular markers of chronic myeloid leukemia (CML) was assessed in 25 patients with the clinical features of ET. One displayed a complex translocation (9; 15; 22) (q34.1 or q34.3; q26.1; q11), and another a Philadelphia chromosome with standard translocation (9; 22) (q34; q11). Southern blot analysis revealed a rearranged breakpoint cluster region (bcr) in each case. Both patients experienced a stormy disease course without a leukemic transformation. These data indicate that the Philadelphia chromosome rarely occurs in ET and strongly influences patient outcome.
Philadelphia Chromosome; Thrombocythemia, Essential; Oncogenes; Chromosomes, Human, Pair 15; Humans; Prognosis; Chromosomes, Human, Pair 9; Translocation, Genetic; Megakaryocytes; Male; Female
Settore MED/15 - Malattie del Sangue
nov-1990
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/199792
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