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Abstract
Pure red cell aplasia (PRCA) is a rare syndrome that only affects the erythroid lineage. It is defined by a normocytic, normochromic anemia with a marked reticulocytopenia and severe reduction or absence of erythroid precursors in the bone marrow. Treatment of primary, idiopathic PRCA is immunosuppressive therapy. Although it is rare, isolated cytogenetic abnormalities can be seen in PRCA, and abnormal karyotype is associated with poor response to immunosuppressive therapy and poor prognosis. We describe a 77-year-old male with primary, idiopathic PRCA and a deletion of chromosome 20q, del(20q), in the bone marrow cells. He was successfully treated with immunosuppressive therapy and became transfusion-independent. The same cytogenetic abnormality has also been described in a few other reports; taken together, these observations suggest that del(20q) may represent a recurrent cytogenetic abnormality in PRCA. Our case report clearly illustrates that even patients with primary PRCA and an abnormal karyotype can respond to immunosuppression and become transfusion-independent.
Highlights
Pure red cell aplasia (PRCA) is a rare syndrome that solely affects erythroid lineage. It is defined by a normocytic, normochromic anemia with a marked reticulocytopenia and severe reduction or absence of erythroid precursors from the bone marrow [1, 2]. e disease is classified into congenital and acquired PRCA. e acquired form is usually an acute and selflimiting disease that mainly occurs in children, whereas the chronic variant is most common in adults
We present a PRCA patient with a deletion of chromosome 20q in the bone marrow cells, and no evidence was found for concomitant hematologic disorders or other disorders commonly associated with PRCA [1, 2]. e diagnosis was based on peripheral blood and bone marrow examination, immunohistochemistry, and G-banding analysis of bone marrow cells
The associations with other conditions and differences in the responsiveness to various therapeutic strategies suggest a diverse pathophysiology of PRCA [1, 7, 8], the role of cytogenetic abnormalities in the pathogenesis of PRCA remains unknown
Summary
Pure red cell aplasia (PRCA) is a rare syndrome that solely affects erythroid lineage. It is defined by a normocytic, normochromic anemia with a marked reticulocytopenia and severe reduction or absence of erythroid precursors from the bone marrow [1, 2]. Acquired PRCA in adults may present as a primary, idiopathic disease, it can be secondary to other underlying conditions. Isolated del(20q) has been reported in cases of both PRCA with MDS and primary, idiopathic PRCA [4, 6] Taken together, these previous reports indicate a potential association between PRCA and certain cytogenetic. We describe a case of PRCA with an isolated del(20q) with no evidence for any concomitant hematologic disorders
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