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Inversion of chromosome 16 with the Philadelphia chromosome in acute myelomonocytic leukemia with eosinophilia: report of two cases
journal contribution
posted on 1992-01-01, 00:00 authored by L M Secker-Walker, G J Morgan, T Min, G J Swansbury, Jeffrey CraigJeffrey Craig, T Yamada, L Desalvo, J W Medina, V Chowdhury, R P Donahue, A Polliack, D CatovskyTwo cases are described with the rare combination of inv(16)(p13q22), strongly associated with acute myelomonocytic leukemia with eosinophilia, M4Eo, and the Philadelphia translocation, t(9;22)(q34;q11), hallmark of chronic myeloid leukemia (CML) and rarely found, (less than 1%), in acute nonlymphocytic leukemia. The patients were: case 1, a 9-year-old girl presenting with a white blood cell count (WBC) 42 x 10(9)/L with 32% blasts and bone marrow with blasts and eosinophil precursors consistent with M4Eo, and case 2, a 25-year-old man with WBC 34.7 x 10(9)/L with 13% blasts and bone marrow with features of M4Eo and basophilia. Both patients achieved remission but died following bone marrow transplantation in first remission (case 1) or in relapse (case 2). Cytogenetic findings were: case 1, at diagnosis, 46,XX,inv(16)(p13q22)(21)/46,XX,t(9;22) (q34;q11),inv(16)(8)/46,XX(10), and case 2, at diagnosis, 46,XY,t(9;22) (q34;q11),inv(16)(p13q22) (16) and in remission, 46,XY,t(9;22)(q34;q11) (1)/46,XY (24). Investigation of the breakpoint on 22 in case 1 with Southern blotting and the polymerase chain reaction demonstrated the presence of a p190 mRNA and a breakpoint typical of acute leukemia. Thus a diagnosis of M4Eo was supported by clinical and cytogenetic sequelae in each case; the Ph in case 1 was apparently secondary to inv(16), in case 2 the Ph probably preceded inv(16) in the etiology of the leukemia.
History
Journal
Cancer genetics and cytogeneticsVolume
58Issue
1Pagination
29 - 34Publisher
ElsevierLocation
Amsterdam, The NetherlandsPublisher DOI
ISSN
0165-4608Language
engPublication classification
C1.1 Refereed article in a scholarly journalCopyright notice
1992, Elsevier Science Publishing Co., Inc.Usage metrics
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AdultBase SequenceBlotting, SouthernChildChromosome InversionChromosomes, Human, Pair 16Chromosomes, Human, Pair 22Chromosomes, Human, Pair 9EosinophiliaFemaleHumansLeukemia, Myelogenous, Chronic, BCR-ABL PositiveLeukemia, Myelomonocytic, AcuteMaleMolecular Sequence DataPhiladelphia ChromosomePolymerase Chain ReactionScience & TechnologyLife Sciences & BiomedicineOncologyGenetics & HeredityACUTE LYMPHOBLASTIC-LEUKEMIAACUTE NONLYMPHOCYTIC LEUKEMIACHRONIC MYELOGENOUS LEUKEMIACHRONIC MYELOID-LEUKEMIAPH1 CHROMOSOMETRANSLOCATIONCRISIS
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