title: Myelodysplastic/myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case.
abstract: We report on a patient fulfilling the diagnostic criteria of unclassifiable myelodysplastic/myeloproliferative diseases with prominent erythropoietic hyperplasia/dysplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24). The patient presented with B-symptoms, erythroblastemia, thrombopenia, marked eosinophilia, presence of myeloid precursors in the peripheral blood, and decreased erythropoietin level. Nodular peritrabecular polymorphous blasts, dysplastic megakaryocytes, and a diffuse argyrophilic fibrosis were detected in the trephine bone marrow biopsy. Immunohistochemically, the blasts stained positively for glycophorin C and hemoglobin A; the proliferation fraction was nearly 90% in the Ki-67 stain. Expression of the phosphorylated Janus kinase 2 was detected in almost all megakaryocytes and in isolated erythroblast islets, suggesting a probable activation of Janus kinase 2, the jak-2 gene being mapped on 9p24. Ten months after initial diagnosis, the disease progressed to frank acute erythroid leukemia. We report for the first time a myelodysplastic/myeloproliferative disease (erythroid preleukemia) accompanied by the specific chromosomal aberration t(8;9)(p23;p24), distinct histopathology, and clinical and laboratory symptoms, and progress to acute erythroid leukemia.
authors.affiliation: Institute of Pathology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
authors.forename: Simone
authors.initials: S
authors.lastname: Heiss
authors.forename: Martin
authors.initials: M
authors.lastname: Erdel
authors.forename: Eberhard
authors.initials: E
authors.lastname: Gunsilius
authors.forename: David
authors.initials: D
authors.lastname: Nachbaur
authors.forename: Alexandar
authors.initials: A
authors.lastname: Tzankov
mesh_terms: D001706:Biopsy; D001854:Bone Marrow Cells / Q000473:pathology; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D018450:Disease Progression; D004900:Erythroblasts / Q000378:metabolism; D005355:Fibrosis; D006021:Glycophorins / Q000378:metabolism; D006441:Hemoglobin A / Q000378:metabolism; D006801:Humans; D006965:Hyperplasia; D007150:Immunohistochemistry; D053614:Janus Kinase 2; D007621:Karyotyping; D019394:Ki-67 Antigen / Q000378:metabolism; D004915:Leukemia, Erythroblastic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008533:Megakaryocytes / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D009195:Peroxidase / Q000378:metabolism; D010766:Phosphorylation; D011505:Protein-Tyrosine Kinases / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D006021:Glycophorins; D019394:Ki-67 Antigen; D011518:Proto-Oncogene Proteins; D006441:Hemoglobin A; D009195:Peroxidase; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2