PB0701 - Comparison between Self-Administered and Clinician-Administered ISTH Bleeding Assessment Tool in RUNX1 Patient Population

Monday, July 11, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

Elizabeth J. Andrews, BS

Intramural Research Training Award Postbaccalaureate
National Institutes of Health
North Bethesda, Maryland, United States

Co-Author(s)

HC

Hyoyoung Choo-Wosoba

Staff Scientist
National Cancer Institute, National Institutes of Health
Bethesda, Maryland, United States
SK

Shelley Sahu Kalsi

Deputy Chief of the Hematology Consult Service
National Heart, Lung, and Blood Institute, National Institutes of Health
Bethesda, Maryland, United States
MM

Matthew Merguerian

Instructor of Pediatrics
Johns Hopkins University School of Medicine, Department of Pediatrics
Bethesda, Maryland, United States
MR

Michael Ring

REDCap Consultant / Administrator
Biomedical Translational Research Information System, National Institutes of Health
Bethesda, Maryland, United States
JD

Joie Davis

PPNP-BC, AGN-BC, Nurse Practitioner, Genetics
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Bethesda, Maryland, United States
SS

Seth Steinberg

Head, Biostatistics and Data Management Section
Office of the Clinical Director, Center for Cancer Research, National Cancer Institute, National Institutes of Health
Bethesda, Maryland, United States
PL

Paul Liu

Senior Investigator and Head, Oncogenesis and Development Section, Division of Intramural Research
National Human Genome Research Institute, National Institutes of Health
Bethesda, Maryland, United States
LC

Lea Cunningham

Medical Director
National Human Genome Research Institute, National Institutes of Health
Bethesda, Maryland, United States

Background: RUNX1 is a master regulator of hematopoiesis. Pathogenic germline RUNX1 variants cause Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM), which is characterized by abnormal bleeding and a 35%-45% lifetime risk of hematologic malignancy. The ISTH Bleeding Assessment Tool (BAT) questionnaire quantifies bleeding symptoms but has not been studied in patients with germline RUNX1 variants.

Aims: To evaluate the agreement between self-administered and clinician-administered BAT questionnaires in patients with deleterious RUNX1 germline variants.

Methods: Thirty-eight patients consented on the NIH IRB-approved protocol 19-HG-0059 completed the questionnaire. The clinician administered the questionnaire without knowledge of the self-administered questionnaire results. The McNemar test assesses how similarly these two versions agreed in classifying abnormal or normal status per criteria. A Bland–Altman plot of differences vs. averages compares the self- and clinician-administered questionnaire score results.

Results: Self- and clinician-administered BAT score classifications of normal or abnormal agreed for 31 of 38 (82%) patients, with a p-value of 0.12 (Table 1). Six patients self-classified their symptoms as abnormal, in contrast to the clinician’s classification as normal. One patient self-classified their symptoms as normal, in contrast to the clinician’s classification as abnormal. Comparison of the self- and clinician-administered BAT scores shows that all but one of the differences are between or very close to the lower and upper limits of agreement, with no distinctive pattern by sex (Figure 1).

Conclusion(s): In patients with germline RUNX1 mutations, self- and clinician- administered ISTH-BAT questionnaire score classifications agreed at a high rate. For most discordant classifications, patients self-classified their bleeding symptoms as more severe than did the clinician. In the future, a larger sample size will improve the statistical confidence in the rate of agreement, and the BAT can be further analyzed with data on platelet count and function in this unique patient population.