Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

15.2K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
15.2K
Abnormal Proliferation02:23

Abnormal Proliferation

5.3K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.3K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.8K
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,...
4.8K
Mutations01:39

Mutations

95.1K
Overview
95.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Lifelong phylogenetic reconstruction of immune-mediated clonal trajectories in paroxysmal nocturnal hemoglobinuria.

Leukemia·2026
Same author

Immunological features of acquired pure red cell aplasia: Specific human leucocyte antigen alleles, signal transducer and activator of transcription 3 mutations and a unique T-cell receptor beta motif.

British journal of haematology·2026
Same author

Clinicopathological features of primary cold agglutinin disease in the Japanese population: Heterogeneous characteristics and diagnostic challenges.

Journal of clinical and experimental hematopathology : JCEH·2026
Same author

DDX41-mutant myeloid neoplasms defy current prognostic schemes and require a dedicated risk scoring system: a multicenter, retrospective study.

Leukemia·2025
Same author

Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol.

International journal of hematology·2025
Same author

Association between gene mutations and outcomes in Japanese high-risk AML patients: a phase 1/2 study of NS-87/CPX-351.

International journal of hematology·2025

Related Experiment Video

Updated: Mar 3, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K

Somatic SETBP1 mutations in myeloid neoplasms.

Hideki Makishima1,2

  • 1Department of Pathology and Tumor Biology, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan. makishima.hideki.8x@kyoto-u.ac.jp.

International Journal of Hematology
|April 28, 2017
PubMed
Summary

Mutations in SETBP1 are linked to poor outcomes in myeloid neoplasms like MDS/MPN and sAML. These SETBP1 (SET-binding protein 1) mutations activate the HOXA pathway, driving aggressive disease and impacting patient prognosis.

Keywords:
Myelodysplastic/myeloproliferative neoplasmsPoor prognosisSETBP1Secondary acute myeloid leukemiaSelf-renewal potential

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.8K
Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

10.5K

Related Experiment Videos

Last Updated: Mar 3, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.8K
Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

10.5K

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • SETBP1 (SET-binding protein 1) regulates cell self-renewal via HOXA-protein activation.
  • Somatic SETBP1 mutations are found in various myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and secondary acute myeloid leukemia (sAML).
  • These mutations occur at positions similar to germline mutations causing Schinzel-Giedion syndrome.

Purpose of the Study:

  • To investigate the role of SETBP1 mutations in myeloid neoplasms.
  • To understand the clinical impact and biological mechanisms of SETBP1 mutations.
  • To explore the association of SETBP1 with other genetic events and disease phenotypes.

Main Methods:

  • Whole exome sequencing to identify somatic SETBP1 mutations.
  • Analysis of clinical data to assess prognostic significance.
  • Studies in mouse models to confirm biological roles.
  • Investigation of downstream pathways (HOXA, RUNX1, MYB).

Main Results:

  • SETBP1 mutations are a poor prognostic factor in MDS/MPN and sAML.
  • Mutations are associated with HOXA pathway activation and aggressive chromosomal abnormalities (-7/del(7q), i(17q)).
  • Mutant SETBP1 attenuates RUNX1 and activates MYB, confirmed in mouse models.
  • SETBP1 mutations cooperate with other genetic events, like ASXL1 mutations, in leukemogenesis.

Conclusions:

  • SETBP1 is a significant oncogene in myeloid neoplasms.
  • SETBP1 mutations contribute to distinct MDS/MPN and sAML phenotypes.
  • Understanding SETBP1's role is crucial for predicting outcomes and developing targeted therapies.