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Buccal epithelial cells display somatic, bone marrow-derived CALR mutation.

Scott R Gilles1, Linda B Baughn1,2, Matthew L Schomaker1

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Buccal epithelial cells can carry a cancer-driving mutation (CALR) found in essential thrombocythemia and CML. This discovery suggests CALR mutations may originate early in blood cell development.

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Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Myeloproliferative neoplasms (MPNs) are a group of blood cancers.
  • Calreticulin (CALR) mutations are common drivers in certain MPNs.
  • Essential thrombocythemia (ET) and Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) are distinct MPNs.

Purpose of the Study:

  • To investigate the presence and origin of CALR mutations in non-hematopoietic cells.
  • To determine if buccal epithelial cells can harbor MPN-associated CALR mutations.
  • To explore the implications of CALR mutations in somatic cells for MPN pathogenesis.

Main Methods:

  • Analysis of buccal epithelial cell DNA from a patient with known CALR-mutant ET and Ph+ CML.
  • Mutation screening for CALR gene alterations in buccal cells.
  • Comparison with germline DNA to exclude inherited mutations.

Main Results:

  • A JAK2-independent, MPN-associated CALR mutation was identified in the patient's buccal epithelial cells.
  • No germline CALR mutation was detected, indicating a somatic origin.
  • The presence of the CALR mutation in buccal cells suggests early mutational events in hematopoietic stem cells.

Conclusions:

  • Buccal epithelial cells can harbor somatic CALR mutations associated with MPNs.
  • This finding supports the hypothesis that CALR mutations may occur early in hematopoietic stem cell development.
  • Further research is warranted to understand the clinical significance of CALR mutations in non-hematopoietic tissues.