Avtor/Urednik     Karas Kuželički, Nataša; Mencej Bedrač, Simona; Jazbec, Janez; Marc, Janja; Mlinarič-Raščan, Irena
Naslov     Risk factors for symptomatic osteonecrosis in childhood ALL
Tip     članek
Vol. in št.     Letnik 12, št. 2
Leto izdaje     2016
Obseg     str. 840-846
ISSN     1792-0981 - Experimental and therapeutic medicine
Jezik     eng
Abstrakt     Treatment induced non traumatic osteonecrosis (ON) has been reported increasingly in children treated for acute lymphoblastic leukemia (ALL). Several risk factors for ON have been identified in childhood cancer patients; however, their diagnostic and prognostic power is limited and the etiology of the disease remains unclear. Therefore, a continuous effort is focused on the identification of additional ON risk factors. We performed a retrospective study of 313 childhood ALL patients to test the association between the ON occurrence in children receiving ALL therapy and common polymorphisms in potential target genes: Thiopurine S methyltransferase (TPMT; 460G>A, 719A>G), 5,10 methylenetetrahydrofolate reductase (MTHFR; 677C>T, 1298A>C), estrogen receptor alpha 1 (ESR1; XbaI) and collagen type I, 1 (COL1A1; Sp1). In the present cohort, higher age and more recently developed treatment protocols were independent risk factors for ON. In children >14.5 years old, TPMT genotype modulated the risk of ON. Additionally, in children <12.9 years old ESR1 genotypes were also implicated in the pathogenesis of ON. Besides greater age and more recent treatment protocols, genetic factors (polymorphisms in ESR1 and TPMT genes) were suggested to be implicated in the pathogenesis of ON and could be potentially used as genetic prognostic markers for ON.
Deskriptorji     Levkemija
Proste vsebinske oznake     acute lymphoblastic leukemia
type I
collagen
estrogen receptor alpha 1
5,10 methylenetetrahydrofolate reductase
osteonecrosis
thiopurine S methyltransferase