• What is CALR?
  • CALR in Acute Myeloid Leukemia
  • Clinical Trials

CALR

Calreticulin (CALR) is a calcium-binding protein that functions in calcium storage and transcription regulation. Missense mutations, silent mutations, nonsense mutations, and frameshift insertions and deletions are observed in cancers such as colorectal cancer, leukemias, myeloproliferative neoplasms, and stomach cancer.

Last Updated: March 30, 2018

CALR in Acute Myeloid Leukemia

In a recent study, the frequency of CALR mutations in acute myeloid leukemia was found to be 1% (1 of 104 samples; Qiao et al. 2016). However, two separate studies using 135 and 254 patients, respectively, reported no CALR mutations in AML patients (Wang et al. 2016; Klampfl et al. 2013). To date, most CALR mutations in AML are exon 9 frameshift insertions and deletions—either a 52-bp deletion (p.L367fs*46), known as a type 1 mutation, or a 5-bp TTGTC insertion (p.K385fs*47), known as a type 2 mutation (Klampfl et al. 2013). Due in part to the rarity of CALR mutations in AML, it is unclear whether or how CALR mutations fit into the "two-hit" theory of leukemogenesis.

Last Updated: March 30, 2018

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