Isolated isochromosome 17q in myelodysplastic syndromes with pure red cell aplasia and basophilia.
Myelodysplastic syndromes (MDS) with pure red cell aplasia (PRCA) have been shown to be a rare form of MDS. A 35-year-old man presented with pancytopenia: hemoglobin 59 g/L, reticulocytes 2 × 10(9)/L, platelets 33 × 10(9)/L, and leukocytes 1.8 × 10(9)/L with 1% blasts. Bone marrow was hypercellular with 50.4% myeloid cells, 0.0% erythroblasts, 25.4% basophils, and 5.6% myeloblasts. Dysplastic changes including pseudo-Pelger-Huët anomaly of neutrophils and mononuclear micromegakaryocytes were found. Immunohistochemistry with glycophorin C confirmed erythroid aplasia. Cytogenetic analysis showed 46,XY,i(17)(q10)[18]/47,XY,+8[2]. Considering two reported cases, these findings indicate that isolated i(17q) may be implicated in the pathogenesis of MDS with PRCA as a recurrent cytogenetic aberration.
Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Japan.
Yumiko
Y
Inui
Katsuya
K
Yamamoto
Atsuo
A
Okamura
Kimikazu
K
Yakushijin
Yoshitake
Y
Hayashi
Hiroshi
H
Matsuoka
Hironobu
H
Minami
D000328:Adult; D001491:Basophils / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics*; D059785:Karyotype; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012010:Red-Cell Aplasia, Pure / Q000150:complications / Q000235:genetics* / Q000473:pathology