Transformation of Childhood MDS-refractory Anemia to Acute Lymphoblastic Leukemia

Abstract

Myelodysplastic syndromes (MDS) are clonal disorders of hematopoietic stem cell. Patients have a deteriorating course with about 30% evolving into acute leukemias usually of the myeloid phenotype. Evolution into acute lymphoblastic leukemia is a rare and intriguing phenomenon seen in far less than 1% of adult cases, and extremely rare in pediatric population. We report a case of childhood MDS-refractory anemia transforming into acute lymphoblastic leukemia after an interval of 21 months since presentation and being on cyclosporine therapy for 9.5 months. The case raises further questions about the biology of MDS and the potential role of cyclosporine in leukemic transformation.

A Rare Case of Transformation of Childhood Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia

“…Cytogenetic analysis of the patient was not performed. In contrast to most RCC cases, 2 subsequent cases exhibited erythroid hyperplasia and hypercellularity, similarly to our case [9, 10]. Although most cases of RCC exhibit a normal karyotype irrespective of BM cellularity, the prospective multicenter study EWOG-MDS 98 determined that RCC patients with normal or increased BM cellularity exhibited cytogenetic abnormalities more frequently than in the patients with hypocellular RCC [23].…”

“…The karyotype of the patient was 46 XY, 5q-. In 2007, Goel et al [9] described a case of 9-yr-old boy with childhood MDS-refractory anemia that transformed into B-precursor ALL after cyclosporine chemotherapy. Cytogenetic analysis of the patient revealed a normal karyotype.…”

Advances in the prognostication and management of advanced MDS in children

“…MDS is a clonal disease arising in a progenitor cell restricted to myelopoiesis, erythropoiesis and megakaryopoiesis (Tefferi et al , 1990; Busque & Gilliland, 1998). The initiating events may infrequently occur in a more immature cell involving the lymphoid cell line resulting in the very rare progression of MDS to ALL (Lopes & Lorand Metze, 1999; Aktas & Tuncbilek, 2006; Goel et al , 2007). The initiating events of MDS have remained obscure, in children like in adults, until the identification of mutations in the tumour‐suppressor gene, TET2 , in about 20% of adult patients with various myeloid disorders including MDS (Delhommeau et al , 2009).…”

Transformation of Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia in a Child

“…Evolution into acute lymphoblastic leukemia (ALL) is rare and seen in \1% adult cases and extremely rare in pediatric population. There is only one other case report where a child with refractory anemia (RA) transformed into ALL [2]. We report another case where a 5 year old child presenting with refractory anemia with excess blasts (RAEB) evolved into ALL.…”