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Assessment of Factors Associated with the Evaluation of Children for Leukemia Predisposition Syndromes: A Retrospective Single-Center Study

D'Aquila, Kristen (2022) Assessment of Factors Associated with the Evaluation of Children for Leukemia Predisposition Syndromes: A Retrospective Single-Center Study. Master's Thesis, University of Pittsburgh. (Unpublished)

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Around 5-10% of children with cancer are thought to have a cancer predisposition syndrome (CPS). Leukemia is the most common type of childhood cancer, comprising approximately 28% of the pediatric cancer population. However, the referral recommendations for a CPS evaluation in patients with leukemia is limited compared to solid tumors. This study aims to evaluate a single-center perspective on referrals to the pediatric cancer predisposition clinic, the prevalence of cancer predisposition syndromes in those who elected to pursue germline genetic testing, and assess for any associations between each patient’s medical history and the diagnosis of a CPS. The participants in this study were obtained using the patient list from the Leukemia Tumor Boards at UPMC Children’s Hospital of Pittsburgh (CHP). All participants were diagnosed between November 1st, 2017, and November 30th, 2021. Data collected for this study was through a chart review from the electronic medical record (EMR) of 124 pediatric patients diagnosed with a type of leukemia or myelodysplastic syndrome. We found 22.7% of pediatric leukemia patients were referred for evaluation in the predisposition clinic. Out of the participants who were evaluated and had germline genetic testing, the prevalence of a CPS was 25%. Our study was able to find a CPS in different diagnosis types including acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS). We were not able to find associations between a participant with an abnormal CBC prior to diagnosis or hematology visit and the diagnosis of a CPS. Referral guidelines for leukemia predisposition syndromes are limited and are often vague, leaving it up to the treating provider to determine if a patients should have a genetics evaluation. Our study supports that a referral for a genetic evaluation should be available to all pediatric leukemia patients as we are not able to identify those who have a CPS by personal and family history alone. These finding may allow for new referral guidelines for pediatric leukemia patients. This can allow for increased identification of CPS in this population and can improve public health by identifying patients with CPS to help guide treatment and management.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
D'Aquila, Kristenkrd72@gmail.comkrd72
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairMeade, Juliajcm154@pitt.edujcm154
Committee MemberDurst, Andreaadurst@pitt.eduadurst
Committee MemberKessler,
Date: 11 May 2022
Date Type: Publication
Defense Date: 19 April 2022
Approval Date: 11 May 2022
Submission Date: 28 April 2022
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 62
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Genetic Counseling, Pediatric Cancer, Leukemia, Cancer Predisposition Syndromes
Date Deposited: 11 May 2022 19:49
Last Modified: 11 May 2022 19:49


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