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Rotator Cuff Disorder — UKMLA MCQ

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HardRheumatologyRotator Cuff DisorderUKMLAMRCGP AKTPARAMRCP Part 1

A 67-year-old has persistent neutrophils 31 ×10^9/L, splenomegaly and raised LDH. Neutrophils are predominantly mature, monocytes are below 10%, BCR::ABL1 is absent and infection, inflammation, corticosteroids and solid malignancy have been excluded. Which finding most strongly supports chronic neutrophilic leukaemia?

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Correct answer: A — An activating membrane-proximal CSF3R variant

The best answer is “An activating membrane-proximal CSF3R variant”. Chronic neutrophilic leukaemia is a BCR::ABL1-negative myeloproliferative neoplasm characterised by sustained mature neutrophilia and commonly an activating CSF3R variant, especially a membrane-proximal mutation. Reactive neutrophilia must be rigorously excluded. JAK2 or CALR with their corresponding erythroid or megakaryocytic phenotype favours another MPN; prominent dysgranulopoiesis and SETBP1 suggest MDS/MPN with neutrophilia, while PDGFRA-rearranged disease is normally eosinophilic and belongs to a different molecular category.

Reference: Chronic neutrophilic leukaemia review: https://pmc.ncbi.nlm.nih.gov/articles/PMC9048254/