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