Donor-derived isolated del(20q) after hematopoietic stem cell transplantation: report of two cases and review of the lit
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CASE REPORT
Donor-derived isolated del(20q) after hematopoietic stem cell transplantation: report of two cases and review of the literature Rashmi Kanagal-Shamanna & Carlos E. Bueso-Ramos & Su S. Chen & Lynne V. Abruzzo & Marcos J. de Lima & Rachel L. Sargent & L. Jeffrey Medeiros & Gary Lu
Received: 8 August 2011 / Accepted: 16 November 2011 / Published online: 15 December 2011 # Springer-Verlag 2011
Introduction Clonal cytogenetic abnormalities in a host following hematopoietic stem cell transplantation (HSCT) are usually of host origin, and their presence typically indicates the onset of myelodysplastic syndrome (MDS) or acute leukemia. Rarely, clonal cytogenetic abnormalities are of donor origin and are usually associated with a donor cell neoplasm, either MDS or leukemia. Although uncommon, most reported cases of donor cell MDS have had unequivocal clinical and/or morphologic findings of MDS associated with clonal cytogenetic abnormalities, most often involving chromosome 7, X, or 16 [1–15]. Rare patients have been reported, however, with a clonal karyotype derived from donor cells who did not develop clinical disease with follow-up as long as 50 months [16]. Deletion of the long arm of chromosome 20, del (20q), is a frequent abnormality in various hematologic conditions, including myeloproliferative neoplasms and MDS [17]. Isolated del(20q) in MDS is associated with mild cytopenias and minimal evidence of morphologic dysplasia, and affected patients usually have a good R. Kanagal-Shamanna : C. E. Bueso-Ramos : S. S. Chen : L. V. Abruzzo : M. J. de Lima : R. L. Sargent : L. J. Medeiros : G. Lu Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA G. Lu (*) Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Unit 350, 1515 Holcombe Blvd., Houston, TX 77030, USA e-mail: [email protected]
prognosis [18–20]. For this reason, the presence of an isolated del(20q) clone without any morphologic evidence of dysplasia is not considered as presumptive evidence of MDS in the World Health Organization classification [21]. The frequency of isolated del(20q) in donor cellderived leukemia and MDS is rare, and its clinical significance in this setting is not yet well understood [13–15]. We report the clinicopathologic features of two patients with isolated del(20q) derived from donor cells following sex-mismatched allogeneic peripheral blood (PB) HSCT from a sibling.
Clinical histories Case 1 A 63-year-old man with persistent pancytopenia underwent bone marrow (BM) aspiration and biopsy that showed slightly hypercellular BM with increased blasts (5%) and dysplastic changes in the erythroid and megakaryocytic lineages. The diagnosis of MDS, refractory anemia with excess blasts type 1, was established. Conventional cytogenetic analysis showed a normal male karyotype. The patient had an International Prognostic Scoring System score of 1 and was transfusion dependent. He did not show response to erythropoietin, lenalidomide, or AMG-351 (Amgen meg
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