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Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

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 daughter...
Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
Anaphase Promoting Complex00:50

Anaphase Promoting Complex

The stepwise destruction of specific proteins is necessary for the progression and completion of the cell cycle. Such proteins are ubiquitinated by ubiquitin ligases and then subsequently destroyed by the proteasome. The SCF (Skp1/Cullin/F-box) and the anaphase-promoting complex (APC) are two important ubiquitin ligases involved in cell cycle progression. While SCF is active throughout the cell cycle, APC gets activated during metaphase to anaphase transition. Cdc20 or Cdh1 binds to APC and...
M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

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Mismatch Repair01:20

Mismatch Repair

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Induced Pluripotent Stem Cells

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Updated: May 18, 2026

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Activating CBL mutations are associated with a distinct MDS/MPN phenotype.

Juliana Schwaab1, Thomas Ernst, Philipp Erben

  • 1III. Medizinische Klinik, Universitätsmedizin Mannheim, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany.

Annals of Hematology
|September 27, 2012
PubMed
Summary

Activating CBL mutations are found in 10% of myelodysplastic/myeloproliferative neoplasm patients. These mutations are linked to specific blood cell counts, bone marrow changes, and a poor prognosis, with a 3-year survival rate of 27%.

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Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Activating point mutations in CBL are increasingly identified in myeloid neoplasms.
  • Detailed clinical and hematological data for CBL-mutated cases are limited.
  • Myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN) overlap syndromes (MPS/MPN) represent complex hematological disorders.

Purpose of the Study:

  • To investigate the frequency of CBL mutations in BCR-ABL and JAK2 V617F negative MPN and MPS/MPN patients.
  • To characterize the clinical, hematological, and bone marrow features associated with CBL mutations.
  • To evaluate the prognostic impact of CBL mutations in this patient cohort.

Main Methods:

  • Screening of 156 BCR-ABL and JAK2 V617F negative MPN and MPS/MPN patients for CBL mutations in exons 8 and 9.
  • Utilized denaturing high-performance liquid chromatography and direct sequencing for mutation detection.
  • Comprehensive clinical and hematological data collection from identified CBL-mutated cases.

Main Results:

  • CBL mutations were detected in 10% (16/156) of the screened patients.
  • Common features included splenomegaly, CML-like leukocytosis with monocytosis, anemia, and thrombocytopenia; thrombocytosis was absent.
  • Bone marrow findings revealed hypercellularity, marked granulopoiesis, abnormal megakaryocytes, and fibrosis.
  • Nine deaths occurred, primarily due to progression to acute myeloid leukemia or cytopenia complications.
  • The 3-year survival rate was 27%, suggesting a poor prognosis.

Conclusions:

  • CBL mutations represent a significant molecular event in a subset of MPN and MPS/MPN patients.
  • CBL-mutated myeloid neoplasms exhibit a distinct clinical and hematological phenotype.
  • The observed high mortality and low survival rate indicate that CBL mutations may portend a poor prognosis in MDS/MPN.