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.

Authors

Benjamin Oshrine¹, Nanette Grana¹, Colin Moore¹, Johnny Nguyen¹, Melissa Crenshaw¹, Melissa Edwards², Sumedha Sudhaman², Victoria J Forster², Uri Tabori²

Affiliations

¹ Johns Hopkins All Children's Hospital, St. Petersburg, FL; and.
² The Hospital for Sick Children, Toronto, ON, Canada.

Abstract

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