Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia

Int J Hematol. 2018 Aug;108(2):228-231. doi: 10.1007/s12185-018-2424-4. Epub 2018 Feb 23.

Abstract

Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

Keywords: Deletion 20q; L3MBTL1; Myelodysplastic syndrome; Pure red cell aplasia; Ribosomopathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anemia, Diamond-Blackfan / blood*
  • Anemia, Diamond-Blackfan / complications*
  • Anemia, Diamond-Blackfan / therapy
  • Blood Transfusion
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 20 / genetics*
  • Clonal Evolution / genetics*
  • Disease Progression
  • Erythroblastosis, Fetal / blood*
  • Erythroblastosis, Fetal / etiology*
  • Erythroblastosis, Fetal / genetics
  • Erythropoiesis / genetics
  • Female
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Myelodysplastic Syndromes / blood*
  • Myelodysplastic Syndromes / etiology*
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / therapy
  • Pancytopenia / etiology
  • Repressor Proteins
  • Ribosomal Proteins / genetics
  • Severity of Illness Index
  • Tumor Suppressor Proteins

Substances

  • Chromosomal Proteins, Non-Histone
  • L3MBTL1 protein, human
  • Repressor Proteins
  • Ribosomal Proteins
  • Tumor Suppressor Proteins
  • ribosomal protein L5, human