JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms

CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients

“…Since CALR mutations discovery, several studies have been correlated these mutations with clinical data and patient outcome in MPN [14][15][16][17][18][19][20][21][22][23][24]. Interestingly, it was described the presence of CALR mutation in peripheral granulocytes of two PV patients negative for both JAK2 V617F and JAK2 exon12 mutations [25].…”

Hmga2 collaborates with JAK2V617F in the development of myeloproliferative neoplasms

“…Genomic DNA was extracted from the patients' peripheral leukocytes using the QIAamp DNA Mini kit (Qiagen) for screening of mutations in JAK2, MPL,and CALR [38][39][40] and the target sequence for 50 genes 41 in a GeneRead DNAseq panel for human myeloid neoplasms (Qiagen) using a MiSeq (Illumina). The data were analyzed by the Qiagen NGS Data Analysis web portal.…”

Activation of the thrombopoietin receptor by mutant calreticulin in CALR-mutant myeloproliferative neoplasms

“…[1][2][3][4] Because the frameshift mutations were limited to 1 of 2 alternative reading frames, CALR mutations in MPN are likely gain-of-function mutations. Furthermore, CALR mutations are not concurrently found with other driver mutations such as Janus kinase 2 V617F (JAK2V617F) and MPLW515K/L in ET and PMF patients.…”

“…Furthermore, CALR mutations are not concurrently found with other driver mutations such as Janus kinase 2 V617F (JAK2V617F) and MPLW515K/L in ET and PMF patients. [1][2][3][4][5][6][7][8] Because mutant JAK2 and thrombopoietin (TPO) receptor (c-MPL) proteins exhibit gain-of-function properties in patients with MPNs, mutant CALR is thought to be involved in activating the c-MPL and JAK2 pathways. Accordingly, the expression of mutant CALR activates the JAK2 signaling pathway, freeing Ba/F3 cells from interleukin-3 dependency.…”