CALR Gene Mutations

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1) What are myeloproliferative neoplasms (MPNs)?

MPNs are bone marrow disorders in which there is cancerous, abnormal, uncontrolled and uninhibited proliferation of one or more type of blood cells. In simple language, it is a type of blood cancer.

2) What is calreticulin?

Calreticulin is protein and the corresponding gene responsible for its synthesis is CALR GENE. Exact function of calreticulin protein is not known, but it is likely to be involved in ensuring correct folding of newly synthesized proteins, maintaining correct calcium levels in the cells, and few more other functions of a cell. Mutation in CALR gene leads to abnormal kind of protein synthesis and defects in protein folding.

3) What is Essential thrombocythemia (ET)?

ET is a blood related malignancy in which there are excess of platelet producing cells – megakaryocytes in the bone marrow, which interferes with normal production of other blood cell lines.

4) What is Primary myelofibrosis (PMF)?

PMF is also known as chronic idiopathic myelofibrosis or agnogenic myeloid metaplasia. It is a unique type of cancer in which there are too many platelet producing cells as well as cells that cause fibrosis in bone marrow leading to scar tissue formation. As a result there is drastic decline in the production of all marrow cell lines.

5) What are the symptoms of MPNs?

Sometimes patients with MPNs may be asymptomatic or have mild symptoms for few years before they are diagnosed either incidentally or on routine check-up and CBC examination. Usually patients with MPNs have symptoms like enlarged liver and spleen (hepatospleenomegaly), clotting episodes in blood vessels, easy bruises or bleeding, fever, weakness and fatigue due to anaemia, headache, dizziness and vision problems. 

6) Is this mutation hereditary?

No. It is acquired during cell division and cannot be passed to your children.

7) Does PCR testing have any limitations?

PCR is a highly sensitive technique, but at times unexpected or paradoxical results can come. This can be due to contamination during sample collection, selecting inappropriate specimens or some kind of in-built or pre-existing PCR inhibitors in the specimen. Also this test will not be able to detect all the different varieties of mutation in the gene.

8) What is the high-end test to detect all mutations in CALR gene?

Next Generation sequencing (NGS) can detect all the types of mutations in CALR gene. But this test is not widely available for diagnosis and is costlier as well.

9) What is invalid result in this testing?

In certain cases while doing PCR, amplification failure can be encountered in a given sample. This may be due to inadequate DNA, poor DNA quality, or a PCR inhibitor. In such circumstances, the testing will be reattempted and if persistently results are unsuccessful, then the report will be issued with comment as an "Invalid" result.

10) Can this test be used a prognostic marker?

Yes. In patients having ET, CALR gene mutations provide additional prognostic value as they are associated with better prognosis, longer survival and fewer thrombotic events (blood clotting episodes) compared to JAK2-mutations.

11) Do I need to do any other test?

For diagnosis of any type of blood cancer a complete work-up is advised. This includes routine CBC, bone marrow aspiration and biopsy, flowcytometry and cytogenetic studies. This gives us a complete picture of existing disease and helps the hematologist to plan further course of action.

12) What are the other commonly tested mutations or abnormalities in MPNs?

Philadelphia chromosome (Bcr-Abl1 translocation), JAK2 mutations and MPL gene mutation are the most common tests done in MPN patients.

13) What are triple negative MPNs?

In 10-15% of patients having ET and PMF, all 3 commonly implicated genes viz. JAK2, MPL and CALR are negative for mutations. Such cancers are known as triple negative MPNs.

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