Related Experiment Video

Updated: Jan 31, 2026

Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients
05:26

Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients

Published on: March 1, 2024

2.0K

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

Emmanuel de Billy1, Luisa Strocchio1, Antonella Cacchione1

  • 1Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Rome, Italy.

American Journal of Medical Genetics. Part A
|December 21, 2018
PubMed

Insights

Kabuki syndrome patients may have an increased risk of developing cancer, specifically Burkitt lymphoma. This rare genetic disorder involves KMT2D gene mutations, which may also contribute to cancer development, warranting close patient monitoring.

Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in epigenetic modifier genes, notably KMT2D.
  • The KMT2D gene, also a tumor suppressor, is frequently altered in various cancers, suggesting a potential link between KS and cancer predisposition.

Observation:

  • A 5-year-old boy with Kabuki syndrome developed Burkitt lymphoma (BL).
  • Genetic analysis identified a novel heterozygous KMT2D gene mutation in both the patient's blood and tumor cells.
  • The patient's tumor exhibited the characteristic t(8;14) chromosomal translocation involving the c-MYC gene, common in BL.

Findings:

  • A novel KMT2D mutation was found in a Kabuki syndrome patient who developed Burkitt lymphoma.
  • The KMT2D mutation and the c-MYC translocation were present in the patient's tumor, suggesting a potential role in lymphomagenesis.

Implications:

  • The study suggests a possible contribution of mutated KMT2D to the development of both Kabuki syndrome and Burkitt lymphoma.
  • Close cancer surveillance is recommended for patients diagnosed with Kabuki syndrome due to potential predisposition.
Keywords:
Burkitt lymphomaKMT2DKabuki syndromepediatric

More Related Videos

Author Spotlight: Advancing VRL Diagnosis Using Cell-Free DNA Extraction from Vitreous Humor06:20

Author Spotlight: Advancing VRL Diagnosis Using Cell-Free DNA Extraction from Vitreous Humor

Published on: January 12, 2024

2.6K
Tumor Engraftment in a Xenograft Mouse Model of Human Mantle Cell Lymphoma10:52

Tumor Engraftment in a Xenograft Mouse Model of Human Mantle Cell Lymphoma

Published on: March 30, 2018

11.7K

Related Concept Videos

Mutations01:39

Mutations

Overview
94.5K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Energy Carried By Electromagnetic Waves01:22

Energy Carried By Electromagnetic Waves

Anyone who has used a microwave oven knows there is energy in electromagnetic waves. Sometimes, this energy is obvious, such as in the summer sun's warmth. At other times, it is subtle, such as the unfelt energy of gamma rays, which can destroy living cells. Electromagnetic waves bring energy into a system through their electric and magnetic fields. These fields can exert forces and move charges in the system and, thus, do work on them. However, there is energy in an electromagnetic wave,...
3.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.2K
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
724