912 Unusual Presentation Of JAK-2; A Degenerating Breast Neurofibroma
نویسندگان
چکیده
Abstract Introduction 29-year-old lady presented to ED with acutely enlarging painless right breast swelling. No history of trauma; diagnosis likely abscess. Significant growth during short inpatient admission incidental clinical finding multiple cutaneous skin nodules from childhood, mother had similar lesions. CT chest performed illustrating large anterior wall mass 15.2x15.7x24.7cm. Transferred regional plastic surgery unit for resection. Haematological abnormality identified on routine bloods which was life changing. Description Attended following a three-day rapidly progressive causing necrosis and blistering overlying drop in haemoglobin 138 94 overnight. where she underwent an evacuation haematoma excision neurofibroma transfused 2 units blood. Pathology revealed degenerating neurofibroma. Abnormal coagulation blood film stay prompted subsequent bone marrow biopsy myeloproliferative neoplasm later found be JAK-2 V617F mutation positive. Discussion Patient moved UK 6 years ago Lithuania, previously lived within area affected by Chernobyl nuclear disaster. disease typically presents middle aged but also reported as radiation acquired. Risk benefit anti-platelet therapy malignancy evaluated due high probability re-bleeding. Complex case Neurofibromatosis-1 Myeloproliferative disease; lump. Multidisciplinary input surgery, haematology, genetics neurology best outcome.
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ژورنال
عنوان ژورنال: British Journal of Surgery
سال: 2021
ISSN: ['1365-2168', '0007-1323']
DOI: https://doi.org/10.1093/bjs/znab259.214