Project

Leukemia predisposition - Familial Leukemia

Goal: Genetic counseling of pediatric patients and their families with recurrent leukemia/lymphoma and or tumors in general.
Define guidelines to identify patients/families with leukemia predisposition.
Identify families that may benefit from genomic screening for predisposing mutations/variants.
Advice clinicians/patients (families) on the best current options for genetic screening.

Methods: Questionnaire-Based Surveys

Updates
0 new
0
Recommendations
0 new
0
Followers
0 new
38
Reads
0 new
230

Project log

Geertruy te Kronnie
added 2 project references
Geertruy te Kronnie
added a research item
Background Background There is increasing evidence for an inherited predisposition to pediatric acute lymphoblastic leukemia (ALL). We and others have previously reported rare and highly penetrant variants in hematopoietic transcription factors (PAX5 and ETV6) and tumor suppressor genes (TP53) in both sporadic and familial ALL. IKZF1 encodes the founding member of the Ikaros family of zinc finger transcription factors, and is a critical regulator of lymphoid development. IKZF1 is frequently targeted by somatic deletions and mutations in high-risk BALL , particularly Ph+ and Ph-like ALL, and is associated with poor outcome. IKZF1 alterations have previously been shown to result in the acquisition of stem cell-like features, overexpression of adhesion molecules causing aberrant cell-cell and cell-stroma interaction, and decreased sensitivity to tyrosine kinase inhibitors. Genome-wide association studies have also identified an association between common polymorphisms at the IKZF1 locus and risk of developing ALL, however the 1*
Geertruy te Kronnie
added a project goal
Genetic counseling of pediatric patients and their families with recurrent leukemia/lymphoma and or tumors in general.
Define guidelines to identify patients/families with leukemia predisposition.
Identify families that may benefit from genomic screening for predisposing mutations/variants.
Advice clinicians/patients (families) on the best current options for genetic screening.