Press release, 29 May 2015
Researchers from MU contributed to the discovery of a new blood disease
A new type of blood disease was discovered by scientists from the MU Faculty of Medicine in
cooperation with their colleagues from abroad. The discovery of this hereditary genetic mutation was
triggered by a non-standard case of a female patient who after treatment of the acute lymphoblastic
leukemia, inexplicably, continued to have a low number of blood platelets. Although she recovered from
the disease, her children inherited this mutation and hence have low number of blood platelets as well.
The scientists have confirmed that the reason is a gene mutation which significantly increases the
likelihood of its bearer to experience an outbreak of leukemia. Information about this new discovery
was published in the prestigious scientific journal Nature Genetics.
„Bearers of this disease do not usually experience any symptoms. The higher risk of leukemia is thus
more likely to be discovered by chance when blood tests reveal lasting thrombocytopenia, that is a low
level of blood platelets. People with this anomaly in their genes should then be more attentive to
manifestation of seemingly ordinary diseases, because there is a higher risk of leukemia," said the dean
of the Faculty of Medicine and the head of the Department of Internal Medicine, Hematology and
Oncology of the Faculty Hospital Brno, Jiří Mayer.
He emphasized that his colleagues were able to discover this disease because they were looking for the
causes of an unusual blood picture of this specific patient which did not comply with what had
previously been known. „The patient was treated for acute leukemia and after the treatment she had
lower levels of blood platelets. When she had children, it turned out that they also have a lower number
of blood platelets. That lead us to look for genetic reasons of this condition. Eventually we discovered
that the whole family has a certain mutation of the gene ETV6 which is responsible for haematopoiesis,"
describes the case Michael Doubek, a hematologist. Consequently, the doctors discovered that this gene
mutation was one of the reasons that caused her outbreak of leukemia.
To confirm the genetic basis of this haematopoiesis disease took the researchers twelve years. Besides
the scientists in Brno, laboratories in Italy and the USA also contributed to this discovery. Moreover,
this newly discovered disease might be more widely spread than the researchers first assumed. They are
currently studying genetic information of another family that experienced a similar problem. The tests
are carried out in cooperation with laboratories of the science institute Ceitec MU.
Although it is not possible to cure the disease now, it is important for patients and doctors to know about
the possible hereditary disposition. Moreover, there is a chance that scientists will be able to prevent the
mutated gene from being passed onto the next generation.
Contact: Tereza Fojtová, spokesperson of MU, tel.: +420 724 517 335, e-mail: fojtova@muni.cz
Masaryk University was founded under a law from 28 January 1919 as the second Czech university. At its founding
there were four faculties – law, medicine, natural sciences and arts. Currently there are nine faculties and 37 000
students enrolled in standard studies. More information can be found at http://www.muni.cz.