Interstitial deletion of chromosome 5, del(5q), in a newborn with down syndrome and an unusual hematologic disorder

Abstract

A newborn with Down syndrome was noted on the 1st day of life to have an elevated white blood cell count of 79,900/mm3 with 62% lymphoblasts and a platelet count of 61,000/mm3, consistent with either transient myeloproliferative disorder of Down syndrome (TMD) or acute leukemia. Karyotype analysis of a bone marrow aspirate revealed that 20% of the cells had a 47,XY, +21 karyotype, and 80% had a 47,XY, +21, del(5)(q13q31) complement. Cytochemical and immunophenotyping of the peripheral blasts were consistent with the presence of an acute undifferentiated precursor blast clone. Results of clonogenic assays of hematopoietic progenitors from this patient's bone marrow were similar to those of patients with TMD. This patient's hematologic abnormalities resolved spontaneously without treatment by week 10 of life. This is the first report of an interstitial deletion of 5q associated with a hematologic abnormality present in an infant at birth.

Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults

“…MDS with low blasts and 5q deletion occurs predominately in middle aged to elderly females [ 17 ], with fewer than 10 cases previously reported in children and AYAs [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 ]. It was first described by Van den Berghe et al in 1974 [ 26 ], and further defined by Sokal et al in 1975 [ 27 ].…”

“…Currently, there is no standard of care therapy for children and AYAs with del(5q) MDS. Treatment strategies have included observation [ 24 ], chemotherapy with steroids [ 21 , 25 ] or erythropoietin [ 20 ], and HSCT [ 18 , 19 , 22 ].…”

“…MDS: myelodysplastic neoplasm, BM: bone marrow, PB: peripheral blood, SF3B1: splicing factor 3B subunit 1, TP53: tumor protein 53 gene. MDS with low blasts and 5q deletion occurs predominately in middle aged to elderly females [17], with fewer than 10 cases previously reported in children and AYAs [18][19][20][21][22][23][24][25]. It was first described by Van den Berghe et al in 1974 [26], and further defined by Sokal et al in 1975 [27].…”