Hospital of the University of Pennsylvania, Philadelphia, PA
Benjamin Aaron Bleiberg, Jackson Steinkamp, Ximena Jordan Bruno
Background: Family history screening for malignancies informs the need for genetic testing of cancer patients and their families. Associations between heritable mutations and solid malignancies are well-established, but germline contributions to hematologic malignancies may be of similar importance. For instance, the pooled risk of a group of heritable transcription factor mutations including RUNX1, GATA2, and CEBPA may play a role in up to 15% of new cases of leukemia. Standard of care for new patient visits in malignant hematology clinics should involve thorough family screening like that of solid malignancies more classically associated with heredity. Methods: All patients presenting to an academic hospital system's outpatient GI, breast, and leukemia clinics for new patient visits in a 3-month period were identified accounting for 706 participants (breast n=258 (36.5%), GI n=303 (42.9%), leukemia n=145 (20.5%)). Retrospective chart review was completed by EMR report, which aggregated data from individuals identified by their cancer diagnosis. Groups were compared along the following variables: percentage with completed 1st degree (parents and siblings) family history of malignancy screening, percentage with completed 2nd degree (grandparents, aunts, and uncles) family history screening. Chi-squared significance testing was completed to identify significant (p<0.05) differences in screening, which was considered completed if entered in the searchable summary information of the patient’s chart. Results: Patients presenting for new patient visits in breast (77.1%) cancer clinic had significantly higher rates of 1st degree family history of malignancy screening than those presenting with new diagnoses of leukemia (62.1%). The comparison of 1st degree screening for GI (71.6%) cancer patients and leukemia patients was not significant. Rates of 2nd degree family history screening were significantly higher for patients with new diagnoses of breast (61.6%) and GI (37.0%) cancers as compared to those with leukemia (24.8%). The combined cohort of GI and breast cancer patients had significantly greater rates of 1st (74.2%) and 2nd degree (48.4%) family history screening than patients with new diagnosis of leukemia. Conclusions: There is growing appreciation of heritable germline contributors to leukemia pathogenesis. However, there remains a deficit in clearly documented, easily referenced family history screening for malignancies in patients with new diagnoses of leukemia when compared to patients with new diagnoses of classically heritable solid malignancies.
Site of malignancy | 1st degree screen | No 1st degree screen | 2nd degree screen | No 2nd degree screen |
---|---|---|---|---|
Breast n=258 | 199 (77.1%) | 59 (22.9%) | 159 (61.6%) | 99 (38.4%) |
GI n=303 | 217 (71.6%) | 86 (28.4%) | 112 (37.0%) | 191 (63%) |
Leukemia n=145 | 90 (62.1%) | 55 (37.9%) | 36 (24.8%) | 109 (75.2%) |
Breast + GI n=561 | 416 (74.2%) | 145 (25.8%) | 271 (48.4%) | 290 (51.6%) |
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