JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)
نویسندگان
چکیده
SUMMARY This case report focuses on a 71-year old patient affected by unknown dyspnea and erythrocytosis referred by his general practitioner to our center for specialist advice after a hematological examination had excluded polycythemia vera on grounds of negative test for JAK2 V617F/exon 12 mutation. An accurate clinical history and physical examination accompanied by respiratory function tests resulted in diagnosis of JAK2 V617F mutation negative erythrocytosis, and treatment could be started. The discussion examines decisional algorithms when a polyglobulic patient is referred for diagnosis.
منابع مشابه
Caso Clinico JAK 2 V 617 F mutation negative erythrocytosis ( or how to more simply perform diagnosis and treat a patient with increased hematocrit )
Luca Zito, Roberto Torchio, Kassem Bannout, Stefano Ulisciani, Marco Guglielmo, Claudio Ciacco, Donatella Lodico SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO), Italia Scuola di specializzazione in Malattie Apparato Respiratorio, Università di Torino, Italia SCDU Medicina Inter...
متن کاملJAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched f...
متن کاملDifferent STAT-3 and STAT-5 phosphorylation discriminates among Ph-negative chronic myeloproliferative diseases and is independent of the V617F JAK-2 mutation.
The V617F JAK2 mutation reported in Ph-negative myeloproliferative diseases (MPDs) induces the constitutive activation of JAK2, which produces an increased phosphorylation of signal transducer activator of transcription (STAT). In this study, we have analyzed a series of 114 patients (54 with polycythemia vera [PV], 44 with essential thrombocythemia [ET], 12 with idiopathic myelofibrosis [IM], ...
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This report describes an 89-year-old woman diagnosed with Philadelphia positive Chronic Myeloid Leukemia in 2007 who was initially treated with 200 mg/day imatinib. The patient demonstrated complete molecular response (CMR) in two tests in 2015 and 2018. During treatment between 2007 and 2019, despite increased dosage of imatinib and switching her therapy to nilotinib, complete hematological r...
متن کاملارزیابی جهش JAK2V617F در نئوپلاسم های میلوپرولیفراتیو کلاسیک غیر CML به روش ARMS-PCR
Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...
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