Thrombocythaemia

Gene: CALR

I don't know

Associated with Myelofibrosis, somatic MIM#254450 and Thrombocythemia, somatic MIM#187950 in OMIM.

2 papers report somatic mutations. No germline mutations reported to date.

PMID: 24325356 - Klampfl et al 2013 - performed WES to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL. Two patients had somatic deletions in exon 9 of CALR, and the remaining 4 had a recurrent 5-bp insertion. They then screened 382 patients with polycythemia vera, 311 with essential thrombocythemia, and 203 with primary myelofibrosis for alterations in CALR. 78 patients with essential thrombocythemia (25%) and 72 with primary myelofibrosis (35%) had mutations in CALR. All patients with mutated CALR had nonmutated JAK2 and MPL.

PMID: 24325359 - Nangalia et al 2013 - performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers.

PMID: 31778606 - Jan and Choi 2020 - review of molecular basis of myeloproliferative neoplasms - only somatic mutations mentioned, no germline.

Created: 24 Sep 2020, 3:25 p.m. | Last Modified: 24 Sep 2020, 3:37 p.m.

Panel Version: 0.8

Mode of inheritance
Unknown

Phenotypes
Myelofibrosis, somatic, 254450; Thrombocythemia, somatic, 187950

Publications

• 24325356
• 24325359
• 31778606

This gene has been added to the panel on the recommendation of GMS specialist disease group experts. Rating Amber as only somatic variants are reported in this gene.

Created: 20 Aug 2020, 2:55 p.m. | Last Modified: 20 Aug 2020, 2:55 p.m.

Panel Version: 0.1

Mode of inheritance
Unknown