A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study.

Autor:	Chin-Yee B; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada., Bhai P; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Cheong I; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Matyashin M; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada., Hsia CC; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Kawata E; Division of Hematology, Panasonic Health Insurance Organization, Matsushita Memorial Hospital, Moriguchi, Osaka, Japan.; Division of Hematology and Oncology, Department of Medicine, Kyoto Prefectural University of Medicine, Kyoto, Kyoto, Japan., Ho JM; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada., Levy MA; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Stuart A; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Lin H; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Department of Epidemiology and Biostatistics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Chin-Yee I; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Kadour M; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Sadikovic B; Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Lazo-Langner A; Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. alejandro.lazolangner@lhsc.on.ca.; Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada. alejandro.lazolangner@lhsc.on.ca.; Department of Epidemiology and Biostatistics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. alejandro.lazolangner@lhsc.on.ca.
Jazyk:	angličtina
Zdroj:	Journal of general internal medicine [J Gen Intern Med] 2023 Jun; Vol. 38 (8), pp. 1828-1833. Date of Electronic Publication: 2022 Nov 30.
DOI:	10.1007/s11606-022-07963-x
Abstrakt:	Background: Erythrocytosis, most often measured as an increase in hemoglobin and/or hematocrit, is a common reason for referral to internal medicine and hematology clinics and a rational approach is required to effectively identify patients with polycythemia vera while avoiding over-investigation. Aim: We aimed to develop and validate a simple rule to predict JAK2 mutation positivity based on complete blood count parameters to aid in the diagnostic approach to patients referred for elevated hemoglobin. Setting: Internal medicine and hematology clinics at an academic tertiary referral center. Participants: The JAK2 Prediction Cohort (JAKPOT), a large retrospective cohort (n = 901) of patients evaluated by internal medicine and hematology specialists for elevated hemoglobin. Design: JAK2 mutation analysis was performed in all patients and clinical and laboratory variables were collected. Patients were randomly divided into derivation and validation cohorts. A prediction rule was developed using data from the derivation cohort and tested in the validation cohort. Key Results: The JAKPOT prediction rule included three variables: (i) red blood cell count >6.45×10 12 /L, (ii) platelets >350×10 9 /L, and (iii) neutrophils >6.2×10 9 /L; absence of all criteria was effective at ruling out JAK2-positivity with sensitivities 94.7% and 100%, and negative predictive values of 98.8% and 100% in the derivation and validation cohorts, respectively, with an overall low false negative rate of 0.4%. The rule was validated for three different methods of JAK2 testing. Applying this rule to our entire cohort would have resulted in over 50% fewer tests. Conclusion: In patients with elevated hemoglobin, the use of a simple prediction rule helps to accurately identify patients with a low likelihood of having a JAK2 mutation, potentially limiting costly over-investigation in this common referral population. (© 2022. The Author(s), under exclusive licence to Society of General Internal Medicine.)
Databáze:	MEDLINE
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