What is a calreticulin test?

The CALR mutation test is used to help diagnose and classify bone marrow disorders that lead to the production of too many blood cells. These disorders are known as myeloproliferative neoplasms (MPNs).

What is calreticulin mutation?

The CALR mutation is acquired after birth as opposed to inherited. It is caused by the addition or removal of small amounts of genetic material to a region of the gene called exon 9. This leads to an abnormal calreticulin protein. It is not yet understood how the mutant protein leads to signs and symptoms of MPN.

Is CALR mutation cancerous?

Patients with myeloproliferative neoplasm (MPN), a group of malignant diseases of the bone marrow, often have a carcinogenic mutated form of the calreticulin gene (CALR).

How is CALR mutation treated?

Current treatment of CALR-mutant MPN patients Standard cytoreductive therapies in MPNs, such as hydroxyurea, interferon-α, and ruxolitinib, have shown similar improvement in patients’ cell counts and symptoms, regardless of mutation status.

Where is calreticulin found?

the endoplasmic reticulum
Calreticulin is located in storage compartments associated with the endoplasmic reticulum and is considered an ER resident protein.

What happens if JAK2 is negative?

One reason it might be negative is that the proportion of your cells that have the JAK2 V617F mutation may be low. Currently, the test is not nationally standardized, so the sensitivity of the test may vary somewhat from laboratory to laboratory.

What is a MPL test?

MPL Mutation Analysis – This DNA-based assay tests leukocytes from blood or bone marrow aspirate for mutations in exon 10 of the thrombopoietin receptor (MPL), including codons 505 and 515, using an advanced DNA sequencing method.

What is JAK2 mutation negative?

What is the CALR gene?

The CALR gene provides instructions for making a multi-functional protein called calreticulin. This protein is found in several parts of the cell, including inside a structure called the endoplasmic reticulum (ER), in the fluid-filled space inside the cell (the cytoplasm), and at the outer surface of the cell.

What does calreticulin do in the body?

Through calcium regulation and other mechanisms, calreticulin is thought to play a role in the control of gene activity, cell growth and division (proliferation) and movement (migration), the attachment of cells to one another (adhesion), and regulation of programmed cell death (apoptosis).

What is the purpose of calreticulin?

In the ER lumen, calreticulin performs two major functions: chaperoning and regulation of Ca(2+) homoeostasis. Calreticulin is a highly versatile lectin-like chaperone, and it participates during the synthesis of a variety of molecules, including ion channels, surface receptors, integrins and transporters.