NCI Data Jamboree (Project Abstract Submission): Submission #33

Presenter Information
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First Name: Fernanda
Middle Initial: {Empty}
Last Name: Silva Michels
Degree(s): MSc, PhD, ODS-C
Position/Title/Career Status: Epidemiologist - Program Manager of Data Quality and Integration
Organization: North American Association of Central Cancer Registries - NAACCR
Organization Address:
Springfield

Email: fmichels@naaccr.org

Additional Authors
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List of Additional Authors:
- First Name: Fernanda
  Last Name: Silva Michels
  Post-nominal letters: MSc, PhD, ODS-C
  Affiliation: NAACCR
- First Name: Stephanie
  Last Name: Hill
  Post-nominal letters: MPH, ODS-C
  Affiliation: NAACCR
- First Name: Philip
  Last Name: Lupo
  Post-nominal letters: PhD, MPH
  Affiliation: Emory
- First Name: Eric
  Last Name: Durbin
  Post-nominal letters: DrPH, MS
  Affiliation: Kentucky Cancer Registry and NAACCR


Abstract Information
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Abstract Category: Building study cohorts (e.g., with visualization capabilities)
Abstract Keywords: SNC (Severe Congenital Neutropenia), Cancer Predisposition Syndromes, NCCR Data Platform, Epithelial Neoplasms, Cancer Registry
Abstract Title: Exploring the Association Between Severe Congenital Neutropenia and Epithelial Malignancies using the NCCR Data Platform.
Abstract:
Severe congenital neutropenia (SCN) is a bone marrow failure syndrome characterized by neutropenia, recurrent infections, and a predisposition to myeloid malignancies, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The risk of leukemic transformation is represented as the primary cause of cancer-related morbidity among individuals with SCN.
Using the NCCR Data Platform, we evaluated cancer patterns among individuals with cancer predisposition syndromes and observed findings consistent with the literature. 0.3% of cancer cases were diagnosed with SCN. Among individuals with cancer and SCN, 40% of cases were classified as leukemias and related disorders, supporting the established association between SCN, AML, and MDS.
However, 34% of SCN-associated cancers were classified within ICCC Group XI (epithelial neoplasms). Within this group, breast carcinomas accounted for 58% of cases, and more than 80% of diagnoses occurred among individuals aged 30–39 years. No epidemiologic or mechanistic studies have demonstrated an association between SCN and epithelial malignancies. Current reviews primarily describe risks for myeloid malignancies and do not identify breast cancer as part of the recognized tumor spectrum.
The NCCR Data Platform links SEER population-based cancer registry data (1995–2022) with medical claims data from insurers. SCN cases will be identified through ICD-9 (288.01) and ICD-10 (D70.0) diagnosis codes captured in claims. Linked registry data will be used to characterize cancer diagnoses among individuals with SCN. Descriptive analyses will examine the distribution of cancer types, demographic characteristics, and temporal patterns, with a focus on epithelial malignancies and breast cancer. Survival rates will be estimated using Kaplan-Meier analysis. We will use SEER*Stat and R/RStudio.
Our preliminary findings suggest that the cancer spectrum associated with SCN may extend beyond recognized hematologic malignancies to include epithelial malignancies, specifically breast cancer. Further investigation using the NCCR Data Platform may help identify and characterize previously unreported associations with epithelial cancers.