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[Minor phenotypic variants in patients with acute lymphoblastic leukemia from west Mexico]
S A Estrada-Padilla1, J R Corona-Rivera2, F Sánchez-Zubieta3
1Instituto de Genética Humana «Dr. Enrique Corona Rivera», Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
Introduction:
Acute lymphoblastic leukemia (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 café-au-lait spots (CALS), had a 3 to 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.
Insights
Children with four or more minor phenotypic variants (MPV) showed an association with acute lymphoblastic leukemia (ALL). This suggests prenatal factors may influence both phenogenesis and leukemogenesis in pediatric ALL.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Dermatology
Background:
- Acute lymphoblastic leukemia (ALL) in children is linked to an increased presence of minor phenotypic variants (MPV).
- These variants suggest potential alterations in phenogenesis during development.
- The study aimed to investigate the association between MPV and pediatric ALL.
Purpose of the Study:
- To determine the association between minor phenotypic variants (MPV) and acute lymphoblastic leukemia (ALL) in children.
- To identify specific MPV that may serve as indicators for ALL.
- To explore the implications of these findings for understanding leukemogenesis.
Main Methods:
- A hospital-based case-control study involving 120 children with ALL and 120 healthy controls matched for age and sex.
- Conducted in Guadalajara, Mexico.
- Involved 28 anthropometric measurements and a systematic physical examination for 405 MPV, with logistic regression analysis for adjusted odds ratios (aOR) and 95% confidence intervals (95%CI).
Main Results:
- Specific anthropometric signs associated with ALL included long upper segment (aOR=2.19), broad jaw (aOR=2.62), narrow ears (aOR=6.22), and increased internipple distance (aOR=2.53).
- Higher frequencies (3-17 times) of MPV such as mesofacial hypoplasia, broad forehead, small nose, short columella, narrow ears, telethelia, Sydney crease (SC), Greek type feet, and café-au-lait spots (CALS) were observed in children with ALL.
- An association was found with four or more MPV (aOR=2.14, P=.004).
Conclusions:
- An association between four or more minor phenotypic variants (MPV) and acute lymphoblastic leukemia (ALL) in children was established.
- The findings suggest the involvement of prenatal factors in both phenogenesis and leukemogenesis.
- Café-au-lait spots (CALS) and Sydney crease (SC) were confirmed as relevant MPV in pediatric ALL.
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