title: Acute myelomonocytic leukemia with inv(16)(p13q22) complicating Philadelphia chromosome positive chronic myeloid leukemia.
abstract: The reciprocal translocation (9;22)(q34;q11) is highly characteristic of chronic myeloid leukemia (CML) and the pericentric inversion inv(16)(p13q22) is almost only found in acute nonlymphocytic leukemia of the myelomonocytic subtype (ANLL M4). Only twice before have an inv(16) and a t(9;22) been found in the same cells, and both times the patients seemed to have de novo ANLL M4. We describe the case of a 21-year-old man who in July 1986 presented with a clinically and hematologically classic chronic phase CML. Treatment with busulfan led to no improvement; instead in September 1986 he developed blast crisis with ANLL M4Eo morphology. He was now cytogenetically examined and the karyotype 45,X,-Y,t(9;22)(q34;q11),inv(16)(p13q22) was found. Southern blot analysis of the bone marrow DNA sampled at this time revealed a standard rearrangement in the 3' end of the M-bcr. Intensive cytostatic treatment caused cytopenia followed by complete hematologic, clinical, and cytogenetic reversal to chronic phase CML, so that in January 1987 the bone marrow karyotype was 46,XY,t(9;22)(q34;q11). Persistent splenomegaly was treated with splenectomy, and a chloroma of the skin was removed by irradiation. In March 1987 he received an allogeneic bone marrow transplant. Since then his only medical problem has been mild graft-versus-host disease; he is well and is working full time as a blacksmith.
authors.affiliation: Department of Medical Genetics, Odense University Hospital, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Heim
authors.forename: B E
authors.initials: BE
authors.lastname: Christensen
authors.forename: T
authors.initials: T
authors.lastname: Fioretos
authors.forename: A G
authors.initials: AG
authors.lastname: Sørensen
authors.forename: N T
authors.initials: NT
authors.lastname: Pedersen
mesh_terms: D000328:Adult; D001752:Blast Crisis / Q000235:genetics / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D003582:Cytogenetics; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D015479:Leukemia, Myelomonocytic, Acute / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male