Supervisors info:
Μαρία Μοσχόβη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Βαϊόπουλος, Ομότιμος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μιχαήλ Κουτσιλιέρης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Leukemia is the most common cancer in children and teens and the most common
form of childhood leukemia is acute lymphoblastic leukemia (ALL). Childhood
leukemia is the second cause of death in children after accidents. Studies have shown
the correlation between genetic background of the disease and prognosis.
The aim of this study is to review the literature and highlight the association between
genetic background and prognosis of leukemia in children.
A blood test (CBC) showing an abnormal white blood cell count may suggest the
diagnosis. To confirm the diagnosis, a bone marrow aspiration and biopsy need to be
performed. Further karyotyping and cytogenetic analysis of the bone marrow sample
will be performed to highlight the underlying genetic abnormalities.
Based on the underlying cytogenetic abnormalities and other clinical and laboratory
criteria, such as total white blood cell count, patient age, and response to treatment,
patients are classified as low, intermediate, and high risk.
There are genetic abnormalities associated with an excellent prognosis, such as
hyperdiploidy and t(12;21)/TEL-AML1 in ALL, and respectively in AML,
t(15;17)/PML-RARA and t(8;21). Other genetic abnormalities are associated with poor
prognosis, such as hypodiploidy and the t(4;11)/MLL-AF4 and t(9;22)/BCR-ABL1 in ALL and the translucency t (6;9)/DEK-NUP214 and cases with complex karyotype.
In these intermediate and high-risk patients, the prognosis is ameliorated by the
intensification of chemotherapy and where possible the administration of targeted
therapy, such as tyrosine kinase inhibitors in Ph + ALL.
With new diagnostic techniques, more genetic abnormalities are continuously being
recognized in patients with leukemia. With even newer techniques for detecting
genetic disorders, such as the Next-Generation Sequencing (NGS), the aim is the
better classification of patients, in order to lead to even more targeted therapies in the
near future.
The introduction of new therapeutic options in the treatment of childhood leukemia,
such as monoclonal antibodies and CAR-T cells therapy, a new horizon is rapidly
opening, giving hope to achieve even higher survival rates in this population group.
Keywords:
Chromosomal abnormalities, Leukemia, Prognosis, Survival
