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: Simone Heiss, Martin Erdel, Eberhard Gunsilius, David Nachbaur, Alexandar Tzankov
• Journal: Human pathology (Hum Pathol) Vol. 36 Issue 10 Pg. 1148-51 (Oct 2005) ISSN: 0046-8177 [Print] United States
• PMID: 16226118 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glycophorins
• Ki-67 Antigen
• Proto-Oncogene Proteins
• Hemoglobin A
• Peroxidase
• Protein-Tyrosine Kinases
• JAK2 protein, human
• Janus Kinase 2

Topics

• Biopsy
• Bone Marrow Cells (pathology)
• Chromosome Banding
• Chromosomes, Human, Pair 9
• Disease Progression
• Erythroblasts (metabolism)
• Fibrosis
• Glycophorins (metabolism)
• Hemoglobin A (metabolism)
• Humans
• Hyperplasia
• Immunohistochemistry
• Janus Kinase 2
• Karyotyping
• Ki-67 Antigen (metabolism)
• Leukemia, Erythroblastic, Acute (diagnosis, genetics, metabolism, pathology)
• Male
• Megakaryocytes (metabolism, pathology)
• Middle Aged
• Myeloproliferative Disorders (diagnosis, genetics, metabolism, pathology)
• Peroxidase (metabolism)
• Phosphorylation
• Protein-Tyrosine Kinases (metabolism)
• Proto-Oncogene Proteins (metabolism)
• Translocation, Genetic