Isolated Isochromosome 17q in Myelodysplastic Syndromes with Pure Red Cell Aplasia and Basophilia

Abstract

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 pseudoPelger-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.

Long‐term outcome of patients with acquired chronic pure red cell aplasia (PRCA) following immunosuppressive therapy: a final report of the nationwide cohort study in 2004/2006 by the Japan PRCA collaborative study group

“…Another explanation may be the emergence of clonal haematopoiesis during immunosuppressive therapy. We know that PRCA may precede the diagnosis of myelodysplasia (Garcia‐Suarez et al , ; Wang et al , ; Inui et al , ), as is the case with idiopathic aplastic anaemia (Socie et al , ). Morphological and cytogenetic examination of bone marrow should be advised if immunosuppression fails to achieve response.…”

Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor

“…Basophilia, along with or without eosinophilia, is described as a characteristic of AML with myelodysplasia-related changes, a disorder associated with a grim prognosis and complex karyotype, including i(17)(q10). It seems that bone marrow basophilia was shown to be specifically and most frequently associated with i(17)(q10) [9]. No relation between the progression and the treatment could be noticed.…”

Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment

“…On the contrary, secondary PRCA can be associated with various disorders including lymphoproliferative disorders (e.g., leukemia, Hodgkin's and non-Hodgkin's lymphoma, and thymoma), solid tumors, viral infections (e.g., parvovirus B19 infections), other autoimmune disorders, and certain pharmacologic agents [1,2]. Although usually not considered to be a preleukemic condition [2], it may be a prodrome to myelodysplastic syndrome (MDS) [4,5]. Several case reports have described a number of recurring cytogenetic aberrations, e.g., isolated i(17q) and del(5q); most of these cases are patients with MDS with PRCA (5).…”

“…Although usually not considered to be a preleukemic condition [2], it may be a prodrome to myelodysplastic syndrome (MDS) [4,5]. Several case reports have described a number of recurring cytogenetic aberrations, e.g., isolated i(17q) and del(5q); most of these cases are patients with MDS with PRCA (5). Isolated del(20q) has also been reported in cases of both PRCA with MDS and primary, idiopathic PRCA [4,6].…”

“…Four different areas are demonstrated in the figure.et al reported del(5q) in four of six patients with MDS with PRCA[9]. is abnormality is commonly seen in the context of MDS alone[5,10,11]. ese MDS patients frequently show erythroid hypoplasia, i.e., a marked decrease and maturation arrest of erythroid precursors; such hypoplasia is uncommon in MDS and has been proposed to represent a…”