Myelodysplastic/myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case

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, th...

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Bibliographic Details
Published in:Human pathology 2005-10, Vol.36 (10), p.1148-1151
Main Authors: Heiss, Simone, Erdel, Martin, Gunsilius, Eberhard, Nachbaur, David, Tzankov, Alexandar
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy
Bone marrow
Bone Marrow Cells - pathology
Chromosome Banding
Chromosomes
Chromosomes, Human, Pair 9
Disease
Disease Progression
Erythroblasts - metabolism
Erythroleukemia
Fibrosis
Glycophorin - metabolism
Hematologic and hematopoietic diseases
Hemoglobin A - metabolism
Humans
Hyperplasia
Immunohistochemistry
Investigative techniques, diagnostic techniques (general aspects)
Janus Kinase 2
Karyotyping
Ki-67 Antigen - metabolism
Leukemia
Leukemia, Erythroblastic, Acute - diagnosis
Leukemia, Erythroblastic, Acute - genetics
Leukemia, Erythroblastic, Acute - metabolism
Leukemia, Erythroblastic, Acute - pathology
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Megakaryocytes - metabolism
Megakaryocytes - pathology
Middle Aged
Myelodysplastic/myeloproliferative diseases
Myeloproliferative Disorders - diagnosis
Myeloproliferative Disorders - genetics
Myeloproliferative Disorders - metabolism
Myeloproliferative Disorders - pathology
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Peroxidase - metabolism
Phosphorylation
Protein-Tyrosine Kinases - metabolism
Proto-Oncogene Proteins - metabolism
Signal transduction
t(8
9)
Translocation, Genetic
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Description
Summary: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.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2005.07.020