A case of myelodysplastic syndrome with erythroid hypoplasia associated with a familial translocation t(3;14)(p21.1;q24.1)

Abstract

Myelodysplastic syndrome (MDS) with erythroid hypoplasia, a rare form of MDS, has not yet been clearly defined. We report here a 20-year-old woman with severe transfusion-dependent anemia and reticulocytopenia. White blood cells and platelet counts were normal. Bone marrow examination showed a low percentage of erythroid precursors (6%) and a marked dyserythropoiesis and dysmegakaryopoiesis. A diagnosis of MDS (refractory anemia according to the FAB classification) with erythroid hypoplasia was made. Cytogenetic analysis of the bone marrow and peripheral blood revealed a 46,XX,t(3;14)(p21.1;q24.1) translocation, which was confirmed by fluorescence in situ hybridization analysis. This translocation was detected in the apparently healthy younger brother, father, and aunt (father's sister) of the patient. Clonality of T cells in the patient was not confirmed by the polymerase chain reaction and heteroduplex temperature-gradient gel electrophoresis. IgM serology for B19 parvovirus was negative. Other conditions known to be associated with erythroid hypoplasia, such as thymoma, were not present. The patient failed to respond to immunosuppressive therapy (antithymocyte globulin and cyclosporin A). Administration of recombinant human erythropoietin improved her anemia. To our knowledge, this balanced translocation, namely t(3;14)(p21.1;q24.1), which is present both in the patient with MDS with erythroid hypoplasia and in the healthy members of the family, has not been defined previously. Am. J. Hematol. 81:883-887, 2006. V V C 2006 Wiley-Liss, Inc.

Disruption of erythroid nuclear opening and histone release in myelodysplastic syndromes

“…Dyserythropoiesis is found in more than 80% of early‐stage MDS . Nuclear changes like abnormal chromatin clumping, bi/multinuclearity or nuclear bridges are features of erythroid cell dysplasia . Caspase‐3 inhibition leads to the blockage of histones release and nuclear condensation, and differentiation in human terminal erythropoiesis (Figures and ).…”

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

“…In contrast, MDS with PRCA and i(17q)/del(5q) may belong to the former type because these cases were correlated with high percentages of blasts (4,12,13). Treatment regimens for MDS with PRCA were varied: prednisolone, erythropoietin, cyclosporine, G-CSF, and azacitidine (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21). Only one patient underwent allogeneic bone marrow transplantation after transformation to AML, and died at 57 months after the diagnosis (19).…”

“…Approximately 50 cases have been reported in the literature, although the definitions of erythroid hypoplasia were heterogeneous: erythroblasts were 1% or fewer, or less than 5% of bone marrow cells (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21).…”

Congenital Erythroid and Myeloid Hypoplasia Terminating Myelodysplastic Syndrome

“…The rare entity of MDS with erythroid hypoplasia has been described in the literature. [16][17][18][19] Patients present with severe anemia, reticulocytopenia, and few recognizable erythroid cells in the bone marrow. In addition to erythroid hypoplasia, bilineage or trilineage dysplasia in >20% of the respective cell lineages is the critical determinant for recognition of this entity.…”