Discovery on new form ETV6-related thrombocytopenia presented at EHA Annual Congress

We recently discovered a new form of an inherited deficiency of platelets (inherited thrombocytopenia-IT), which is caused by mutations in the ETV6-gene. The name we gave to this disorder is ETV6-related thrombocytopenia (ETV6-RT). In our case series it affects about 5% of patients with known IT.

ETV6-RT is transmitted by one parents and differs from most of the known ITs because the bleeding tendency is mild or absent and there are no morphological or functional abnormalities (such as very large platelets) that can suggest the diagnosis. In the majority of our patients, the evidence of the thrombocytopenia was incidental. That’s the real problem of ETV6-RT! This new form, indeed, is more dangerous than it seems: this condition puts patients at risk of developing hematological malignancies (blood cancers), in particular childhood B-cell acute lymphoblastic leukemia (ALL).

Since ETV6-RT is one of the few forms of IT without large platelets, we recommend a genetic screening for ETV6 mutations in all patients with IT and normal sized platelets. It is important to pay attention to the "dangerous hidden risk" of developing blood cancer (in order to define prognosis and plan a personalized follow-up regimen), than to bleeding complications, which are rare and usually do not affect the quality of life.

Abstract S148 will be presented by Federica Malazzini on Friday, June 10, 16:25 - 16:35 in Hall A1.

Source: http://www.ehaweb.org/