Detection of CALR exon 9 insertion or deletion mutations in BCR/ABL1-negative myeloproliferative neoplasms
Performing Laboratory / Facility
UCLA Medical Center Clinical Laboratory (CHS)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
14 days from receipt of specimen in performing lab
Methodology
Genomic DNA extracted from blood or bone marrow are amplified by polymerase chain reaction (PCR) using the FAM-labeled primer set. The PCR products are then analyzed by fragment analysis using capillary electrophoresis.
Use
Somatic insertions or deletions in exon 9 of the calreticulin gene (CALR) occur in a large subset of patients with BCR/ABL1-negative myeloproliferative neoplasms who are negative for JAK2 and MPL mutations. In particular, CALR mutations appear restricted to patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). ET and PMF with CALR mutations are associated with distinct clinical features and can have superior outcome to MPL-mutated and JAK2-mutated ET and PMF. Thus, CALR testing represents a clinically important component of the workup of patients who are suspected to have a myeloproliferative disorder and can provide both diagnostic and prognostic information, and can provide a marker for monitoring response to therapy and disease recurrence.
Detection of CALR exon 9 insertion or deletion mutations in BCR/ABL1-negative myeloproliferative neoplasms
Performing Laboratory / Facility
UCLA Medical Center Clinical Laboratory (CHS)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
14 days from receipt of specimen in performing lab
Methodology
Genomic DNA extracted from blood or bone marrow are amplified by polymerase chain reaction (PCR) using the FAM-labeled primer set. The PCR products are then analyzed by fragment analysis using capillary electrophoresis.
Use
Somatic insertions or deletions in exon 9 of the calreticulin gene (CALR) occur in a large subset of patients with BCR/ABL1-negative myeloproliferative neoplasms who are negative for JAK2 and MPL mutations. In particular, CALR mutations appear restricted to patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). ET and PMF with CALR mutations are associated with distinct clinical features and can have superior outcome to MPL-mutated and JAK2-mutated ET and PMF. Thus, CALR testing represents a clinically important component of the workup of patients who are suspected to have a myeloproliferative disorder and can provide both diagnostic and prognostic information, and can provide a marker for monitoring response to therapy and disease recurrence.
