Calreticulin mutations help diagnose occult myeloproliferative neoplasms in patients with splanchnic vein thrombosis

Myeloproliferative neoplasms (Fildadelfia chromosome-negative) are the most common cause of splanchnic vein thrombosis, but they are often masked. A study led by IDIBAPS has found that screening for mutations in the gene encoding calreticulin (CALR) increases the number of diagnoses of this type of cancer and may reduce the need for additional studies, such as bone marrow biopsy, in some patients. This is the first study to evaluate the frequency of these mutations in a large number of patients.