Diagnostic significance of CALR mutations in relation to JAK2 and MPL mutations in MPNs
CALR mutations are detectable in 67% of ET and 88% of PMF cases with non-mutated JAK2 or MPL. It is mutually exclusive with mutations of JAK2 or MPL in MPNs: The detection of CALR mutations fills a diagnostic gap in ET and PMF patients harbouring non-mutated JAK2/MPL.
Klampfl T et al. Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms. N Engl J Med 369(25): 2379-2390, 2013.
Nangalia J et al. Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2. N Engl J Med 369(25): 2391-2405, 2013
CAL2 Immunostaining correlates 100% with Sanger sequencing
||Result of CAL2 Immunihistochemistry
Total No. of investigated cases N = 173
Data from a study by Stein et al, Leukemia 2015