Abstract
A 55-year-old woman was admitted to the University Hospital Zurich, Switzerland, in March, 2020, because of rapidly progressive, painful, pruritic lesions of the forehead in combination with severe neutrophilia. She denied B-symptoms and had no signs of bleeding or infection. On physical examination, extended verrucous lesions on the forehead, cheeks, and jaw were noted (figure A). Histopathological analyses of skin biopsies showed a dense, neutrophil-rich infiltrate of all dermal layers without atypia or increased presence of CD34+ cells or eosinophils. PET-CT scans revealed elevated bone marrow metabolism without any evidence of other extracutaneous manifestations. Bone marrow biopsy showed an expanding neutrophilic granulopoiesis without blast cell proliferation or dysplasia, and next-generation sequencing revealed CSF3R 1853C>T (Thr618Ile). Somatic mutations in ASXL1 and RUNX1 were also found. The patient was diagnosed with chronic neutrophilic leukaemia and subsequently treated with six 4-week cycles of the Janus kinase 1/2 inhibitor ruxolitinib (20 mg orally every 12 h), resulting in normalisation of peripheral neutrophil count and a subtotal remission of the skin lesions (figure B). She received allogeneic haematopoietic stem cell transplantation (HSCT) from her HLA-identical sibling in October, 2020, and is currently well with no signs of disease relapse, although she developed mild intestinal chronic graft-versus-host disease.
Published Version
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