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Identification of a Novel ZBTB20-JAK2 Fusion by Mate-Pair Sequencing in a Young Adult With B-Lymphoblastic Leukemia/Lymphoma.

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ment in their symptoms. Other patients who had cutaneous and neurological involvement also had symptomatic improvements. The treatment was tolerated well, with only one patient discontinuing therapy because of headache.… Click to show full abstract

ment in their symptoms. Other patients who had cutaneous and neurological involvement also had symptomatic improvements. The treatment was tolerated well, with only one patient discontinuing therapy because of headache. The performance status improved in 75% of patients, and the median survival for the cohort was 24 months. It is likely that etanercept had an effect on AL amyloidosis, but appropriate response assessment using free light chains and cardiac biomarkers was not available. To our knowledge, this is the first report of a patientwithAL amyloidosis and symptoms related to GI involvement responding to therapywith adalimumab.Tumornecrosis factora could play a role in the pathophysiology of AL amyloidosis. In our patient, diarrhea and severe abdominal pain improved dramatically after receiving a total dose of 80 mg of adalimumab subcutaneously. The effectiveness of this agent could be investigated further in phase I/II trials in patients with refractory AL amyloidosis.

Keywords: jak2 fusion; zbtb20 jak2; amyloidosis; identification novel; fusion mate; novel zbtb20

Journal Title: Mayo Clinic proceedings
Year Published: 2019

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