B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency

Blood Adv. 2019 Jun 25;3(12):1795-1798. doi: 10.1182/bloodadvances.2019000358.

Abstract

  1. Constitutional mismatch repair deficiency syndrome should be considered in children with acute leukemia and characteristic skin lesions.

  2. The high mutation burden of CMMRD-related cancers contributes to treatment resistance, necessitating individualized treatment strategies.

Publication types

  • Case Reports

MeSH terms

  • Antibodies, Bispecific / administration & dosage
  • Antibodies, Bispecific / therapeutic use
  • Antineoplastic Agents, Immunological / administration & dosage
  • Antineoplastic Agents, Immunological / therapeutic use
  • Bone Marrow / abnormalities
  • Bone Marrow / metabolism*
  • Bone Marrow / pathology
  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics*
  • Child
  • Colorectal Neoplasms / complications
  • Colorectal Neoplasms / genetics*
  • Fatal Outcome
  • Humans
  • Inotuzumab Ozogamicin / administration & dosage
  • Inotuzumab Ozogamicin / therapeutic use
  • Male
  • Mutation / genetics
  • Neoplastic Syndromes, Hereditary / complications
  • Neoplastic Syndromes, Hereditary / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / etiology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology

Substances

  • Antibodies, Bispecific
  • Antineoplastic Agents, Immunological
  • blinatumomab
  • Inotuzumab Ozogamicin

Supplementary concepts

  • Turcot syndrome