Related Experiment Video

Updated: Jul 29, 2026

Isolation and Flow Cytometric Analysis of Glioma-infiltrating Peripheral Blood Mononuclear Cells
12:52

Isolation and Flow Cytometric Analysis of Glioma-infiltrating Peripheral Blood Mononuclear Cells

Published on: November 28, 2015

No GIST-type c-kit gain of function mutations in neuroblastic tumours

M Korja1, J Finne, T T Salmi

  • 1Department of Medical Biochemistry and Molecular Biology, University of Turku, Kiinamyllynkatu 10, FI-20520 Turku, Finland.

Journal of Clinical Pathology
|June 25, 2005
PubMed
Abstract

Insights

Gastrointestinal stromal tumour (GIST)-type c-kit gene mutations are rare in neuroblastic tumours (NTs). This suggests that the oncogenic activation of c-kit in NTs differs from GISTs, potentially impacting imatinib treatment response.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Neuroblastic tumours (NTs) show potential sensitivity to imatinib.
  • Imatinib's mechanism may involve the c-kit receptor.
  • Gastrointestinal stromal tumours (GISTs) are known to harbor c-kit mutations.

Purpose of the Study:

  • To investigate the presence of GIST-type c-kit gene mutations in NTs.
  • To identify NT subsets potentially responsive to imatinib therapy.
  • To analyze mutations in c-kit exons 9, 11, 13, and 17.

Main Methods:

  • Immunohistochemistry used to detect c-kit protein expression in 37 NTs.
  • Denaturing high-performance liquid chromatography (HPLC) employed to detect c-kit gene mutations.
  • Analysis focused on archival paraffin-embedded NT samples.

Main Results:

  • No GIST-type c-kit gene mutations were identified in any of the 37 NTs.
  • This finding applied to both c-kit positive (4 cases) and c-kit negative (33 cases) tumours.
  • Denaturing HPLC analysis confirmed the absence of specific mutations.

Conclusions:

  • c-kit receptor expression and GIST-type mutations are infrequent in NTs.
  • Oncogenic c-kit activation in NTs likely differs from that in GISTs.
  • The role of c-kit in NT pathogenesis and imatinib response requires further investigation.

More Related Videos

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

Modeling Brain Tumors In Vivo Using Electroporation-Based Delivery of Plasmid DNA Representing Patient Mutation Signatures04:01

Modeling Brain Tumors In Vivo Using Electroporation-Based Delivery of Plasmid DNA Representing Patient Mutation Signatures

Published on: June 23, 2023

Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...