JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism
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چکیده
REFERENCES 1. Young JL Jr, Miller RW. Incidence of malignant tumors in U. S. children. J Pediatr 1975;86:254-8. 2. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med 2004;350:1535-48. 3. Jonsson OG, Sartain P, Ducore JM, Buchanan GR. Bone pain as an initial symptom of childhood acute lymphoblastic leukemia: association with nearly normal hematologic indexes. J Pediatr 1990;117:233-7. 4. McKay C, Furman WL. Hypercalcemia complicating childhood malignancies. Cancer 1993;72:256-60. 5. Hann IM, Lees PD, Palmer MK, Gupta S, Morris-Jones PH. Renal size as a prognostic factor in childhood acute lymphoblastic leukemia. Cancer 1981;48:207-9. 6. Bhatia NG, Sneha LM, Selvan SM, Scott JJ. Acute renal failure as an initial manifestation of acute lymphoblastic leukemia. Indian J Nephrol 2013;23:292-3. 7. Hibi S, Funaki H, Ochiai-Kanai R, et al. Hypercalcemia in children presenting with acute lymphoblastic leukemia. Int J Hematol 1997;66:353-7. 8. Rosol TJ, Capen CC. Mechanisms of cancer-induced hypercalcemia. Lab Invest 1992;67:680-702. 9. Shimonodan H, Nagayama J, Nagatoshi Y, et al. Acute lymphocytic leukemia in adolescence with multiple osteolytic lesions and hypercalcemia mediated by lymphoblast-producing parathyroid hormone-related peptide: a case report and review of the literature. Pediatr Blood Cancer 2005;45:333-9. 10. Lokadasan R, Prem S, Koshy SM, Jayasudha AV. Hypercalcaemia with disseminated osteolytic lesions: a rare presentation of childhood acute lymphoblastic leukaemia. Ecancermedicalscience 2015;9:542. 11. Turkmen K, Altintepe L, Guney I, et al. Uncontrolled hypertension secondary to leukemic cell infiltration of kidneys in a hemodialysis patient. Int J Nephrol Renovasc Dis 2010;3:65-8. 12. Larsen G, Loghman-Adham M. Acute renal failure with hyperuricemia as initial presentation of leukemia in children. J Pediatr Hematol Oncol 1996;18:191-4. JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism
منابع مشابه
Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR
Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...
متن کاملPrevalence of MPL (W515K/L) Mutations in Patients with Negative-JAK2 (V617F) Myeloproliferative Neoplasm in North-East of Iran
Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...
متن کاملSomatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.
We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familial cases, carried deletions or duplications of exon 12 in circulating granulocytes but not in T lymphocytes. Two of the 8 mutations detected were novel, and the most frequent ones were N542-E543del and...
متن کاملمقایسه دو روش ARMS-PCR و AS-PCR در ارزیابی جهش JAK2V617F در نئوپلاسمهای میلوپرولیفراتیو کلاسیک غیر CML
Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARM...
متن کاملJAK2 mutations across a spectrum of venous thrombosis cases.
The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. It has also been reported as a marker for occult myeloproliferative disorder (MPD) in patients with splanchnic venous thrombosis. Limited data are available regarding the prevalence of the JAK2(V617F) muta...
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