作者: K Schmiegelow , U Lausten Thomsen , A Baruchel , C E Pacheco , Rob Pieters
DOI: 10.1038/LEU.2011.274
关键词: Gene polymorphism 、 Leukemia 、 Epidemiology 、 ETV6 、 Pediatrics 、 Concordance 、 Immunophenotyping 、 Etiology 、 Medicine 、 Childhood Acute Lymphoblastic Leukemia 、 Internal medicine
摘要: Polymorphic genes have been linked to the risk of acute lymphoblastic leukemia (ALL). Surrogate markers for a low burden early childhood infections are also related increased developing ALL. It remains uncertain, whether siblings children with ALL an This international collaboration identified 54 sibships two (N = 51) or more 3) cases (ages <18 years). The 5-year event-free survival 61 patients diagnosed after 1 January 1990 was 0.83 ± 0.05. Ages at diagnosis (Spearman correlation coefficient, r(S) 0.41, P 0.002) were significantly correlated, but not WBCs (r(S) 0.23, 0.11). In 18 successful karyotyping in both cases, six concordant high-hyperdiploidy 3), t(12;21) [ETV6/RUNX1] 1), MLL rearrangement 1) t(1;19)(q23/p13) 1). Eleven ALL-subtype concordant, being T-cell (T-ALL) 5, total sibships, where first-born had T-ALL) B-lineage belonging same cytogenetic subset 6), finding that differs from expected chance distribution (κ: 0.58; < 0.0001). These data indicate strong genetic and/or environmental factors restricted specific subtypes, which must be taken into account, when performing epidemiological studies reveal etiological factors.