Minor phenotypic variants in patients with acute lymphoblastic leukaemia from west Mexico

Abstract

Abstract Introduction Acute lymphoblastic leukaemia (ALL) has been associated with an excess of minor phenotypic variants (MPV), including common variants and minor anomalies, indicative of an altered phenogenesis. The objective of the study was to determine the association between MPV and ALL. Patients and methods In a hospital based case–control study, we studied 120 children with ALL (including standard and high risk) and 120 healthy children as a control group, matched for age and sex, seen in the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). In both groups, 28 anthropometric measurements were made, as well as a systematic search for 405 MPV, through a physical examination. Adjusted odds ratio was estimated (aOR) with its intervening variables by logistic regression. The confidence interval was 95% (95%CI). Results Anthropometric signs associated with ALL were: long upper segment (aOR = 2.19, 95%CI: 1.01–4.76), broad jaw (aOR = 2.62, 95%CI: 1.29–5.30), narrow ears (aOR = 6.22, 95%CI: 2.60–14.85), and increase in internipple distance (aOR = 2.53, 95%CI: 1.07–5.98). The hypoplasia mesofacial, broad forehead, small nose, short columella, narrow ears, telethelia, Sydney crease (SC), Greek type feet and cafe-au-lait spots (CALS), had a 3–17 times higher frequency in children with ALL. By number, an association was found from ≥4 MPV (aOR = 2.14, 95%CI: 1.25–3.66, P = .004). Conclusions From ≥4 MPV, an association was found with ALL, suggesting prenatal factors in phenogenesis and leukemogenesis. CALS and SC were confirmed as MPV in children with ALL.