Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder.
We report an unusual hyperdiploid karyotype characterized by the simultaneous occurrence of tetrasomy 21 and trisomy 8 detected during early blastic evolution of a BCR-ABL-negative chronic myeloproliferative disorder. Blast cells from this patient showed a striking response to all-trans-retinoic acid (ATRA)-induced differentiation as evaluated by CD15 expression following in vitro exposure to this inducer. Our report represents the first description of such a composite karyotype in human hematologic malignancies.
Sebastio
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L
Servizio Di Genetica Medica, Ospedale Cardarelli, Napoli, Italia.
Ferrara
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F
Vicari
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di Noto
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R
del Vecchio
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L
Pane
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Fasanaro
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A
Cimino
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R
Salvatore
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F
Ventruto
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D000368:Aged; D000782:Aneuploidy; D001853:Bone Marrow / Q000276:immunology / Q000473:pathology; D002454:Cell Differentiation / Q000187:drug effects; D002478:Cells, Cultured; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002908:Chronic Disease; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D008297:Male; D009196:Myeloproliferative Disorders / Q000150:complications* / Q000235:genetics; D011003:Ploidies; D014212:Tretinoin / Q000494:pharmacology; D014314:Trisomy
D014212:Tretinoin