Skip to main content
Erschienen in: Indian Journal of Hematology and Blood Transfusion 4/2016

17.12.2015 | Original Article

JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma

verfasst von: Hossein Ayatollahi, Mohammad Hadi Sadeghian, Mohammad Reza Keramati, Ehsan Ghayoor Karimiani, Amir Hossein Jafarian, Abbas Shirdel, Hossein Rahimi, Mohammad Esmaeel Zangane-Far, Arezoo Shajiei, Maryam Sheikhi

Erschienen in: Indian Journal of Hematology and Blood Transfusion | Ausgabe 4/2016

Einloggen, um Zugang zu erhalten

Abstract

Adult T cell Leukemia/lymphoma (ATL) is a mature T-cell neoplasm that has strong association with the human T-lymphotropic virus type 1 (HTLV-I) infection. This infection is endemic in our region (north eastern Iran). It has been highlighted that Janus Kinase family proteins and specially JAK2 mutations have a pivotal role in the development of many types of hematological malignancies and in particular myeloproliferative neoplasms. So far, the underlying molecular mechanisms leading to the ATL are not well understood. Therefore, in this study it was hypothesized that JAK2 (V617F) mutation may be present in samples from patients with ATL. This case control study was performed in north-eastern Iran. Using polymerase chain reaction, JAK2 (V617F) mutation was performed in 20 DNA samples from ATL patients and 20 HTLV-1 asymptomatic carriers (control group). The results of ATL subjects and the control group were compared by using SPSS software. In the case group 13 (65 %) and 7 patients (35 %) were male and female respectively, with the age range between 40 and 80 years. Only one patients has JAK2 mutation and this mutation was absent in 95 % of ATL patients as well as the HTLV-1 asymptomatic carriers. The results of our study demonstrated that JAK2 V617F mutation is not a common phenomenon in ATL. However, further studies are required to investigate the possible dysregulation of JAK signaling in ATL.
Literatur
1.
Zurück zum Zitat Stein CK (2011) Applications of cytogenetics in modern pathology. In: McPherson RA, Pincus MR (eds) Henry’ clinical diagnosis and management by laboratory methods, 22nd edn. Elsevier Saunders, Pennsylvania, pp 1305–1429 Stein CK (2011) Applications of cytogenetics in modern pathology. In: McPherson RA, Pincus MR (eds) Henry’ clinical diagnosis and management by laboratory methods, 22nd edn. Elsevier Saunders, Pennsylvania, pp 1305–1429
2.
Zurück zum Zitat Ioachim HL, Medeiros LJ (2008) Ioachim’s lymph node pathology, 4th edn. Lippincott Williams & Wilkins, Philadelphia Ioachim HL, Medeiros LJ (2008) Ioachim’s lymph node pathology, 4th edn. Lippincott Williams & Wilkins, Philadelphia
3.
Zurück zum Zitat Hlela C, Shepperd S, Khumalo NP, Taylor GP (2009) The prevalence of human T-cell lymphotropic virus type 1 in the general population is unknown. AIDS Rev 11(4):205–214PubMed Hlela C, Shepperd S, Khumalo NP, Taylor GP (2009) The prevalence of human T-cell lymphotropic virus type 1 in the general population is unknown. AIDS Rev 11(4):205–214PubMed
4.
Zurück zum Zitat Itoyama T, Chaganti RS, Yamada Y, Tsukasaki K, Atogami S, Nakamura H et al (2001) Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki. Blood 97(11):3612–3620CrossRefPubMed Itoyama T, Chaganti RS, Yamada Y, Tsukasaki K, Atogami S, Nakamura H et al (2001) Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki. Blood 97(11):3612–3620CrossRefPubMed
5.
Zurück zum Zitat Kamada N, Sakurai M, Miyamoto K, Sanada I, Sadamori N, Fukuhara S et al (1992) Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report. Cancer Res 52(6):1481–1493PubMed Kamada N, Sakurai M, Miyamoto K, Sanada I, Sadamori N, Fukuhara S et al (1992) Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report. Cancer Res 52(6):1481–1493PubMed
6.
Zurück zum Zitat Mao X, Lillington DM, Czepulkowski B, Young BD, Russell-Jones R, Whittaker S (2001) A case of adult T-cell leukaemia/lymphoma characterized by multiplex-fluorescence in situ hybridization, comparative genomic hybridization, fluorescence in situ hybridization and cytogenetics. Br J Dermatol 145(1):117–122CrossRefPubMed Mao X, Lillington DM, Czepulkowski B, Young BD, Russell-Jones R, Whittaker S (2001) A case of adult T-cell leukaemia/lymphoma characterized by multiplex-fluorescence in situ hybridization, comparative genomic hybridization, fluorescence in situ hybridization and cytogenetics. Br J Dermatol 145(1):117–122CrossRefPubMed
7.
Zurück zum Zitat Keramati MR, Sadeghian MH, Ayatollahi H (2010) Clinical and laboratory features in adult T-cell leukemia/lymphoma in Khorasan, Iran. Leuk Lymphoma 51(4):727–729CrossRefPubMed Keramati MR, Sadeghian MH, Ayatollahi H (2010) Clinical and laboratory features in adult T-cell leukemia/lymphoma in Khorasan, Iran. Leuk Lymphoma 51(4):727–729CrossRefPubMed
8.
Zurück zum Zitat Rafatpanah H, Hedayati-Moghaddam MR, Fathimoghadam F, Bidkhori HR, Shamsian SK, Ahmadi S et al (2011) High prevalence of HTLV-I infection in Mashhad, Northeast Iran: a population-based seroepidemiology survey. J Clin Virol 52(3):172–176CrossRefPubMed Rafatpanah H, Hedayati-Moghaddam MR, Fathimoghadam F, Bidkhori HR, Shamsian SK, Ahmadi S et al (2011) High prevalence of HTLV-I infection in Mashhad, Northeast Iran: a population-based seroepidemiology survey. J Clin Virol 52(3):172–176CrossRefPubMed
9.
Zurück zum Zitat Frederick JS, Kumar V, Abbas AK, Fausto N et al (2010) Robbins and Cotran pathologic basis of disease, 8th edn. Elsevier Saunders, Pennsylvania Frederick JS, Kumar V, Abbas AK, Fausto N et al (2010) Robbins and Cotran pathologic basis of disease, 8th edn. Elsevier Saunders, Pennsylvania
11.
Zurück zum Zitat James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037):1144–1148CrossRefPubMed James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037):1144–1148CrossRefPubMed
12.
Zurück zum Zitat Bandaranayake RM, Ungureanu D, Shan Y, Shaw DE, Silvennoinen O, Hubbard SR (2012) Crystal structures of the JAK2 pseudokinase domain and the pathogenic mutant V617F. Nat Struct Mol Biol 19(8):754–759CrossRefPubMedPubMedCentral Bandaranayake RM, Ungureanu D, Shan Y, Shaw DE, Silvennoinen O, Hubbard SR (2012) Crystal structures of the JAK2 pseudokinase domain and the pathogenic mutant V617F. Nat Struct Mol Biol 19(8):754–759CrossRefPubMedPubMedCentral
13.
Zurück zum Zitat Campregher PV, Santos FP, Perini GF, Hamerschlak N (2012) Molecular biology of Philadelphia-negative myeloproliferative neoplasms. Rev Bras Hematol Hemoter 34(2):150–155CrossRefPubMedPubMedCentral Campregher PV, Santos FP, Perini GF, Hamerschlak N (2012) Molecular biology of Philadelphia-negative myeloproliferative neoplasms. Rev Bras Hematol Hemoter 34(2):150–155CrossRefPubMedPubMedCentral
14.
Zurück zum Zitat Ha JS, Kim YK, Jung SI, Jung HR, Chung IS (2012) Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. Ann Lab Med. 32(6):385–391CrossRefPubMedPubMedCentral Ha JS, Kim YK, Jung SI, Jung HR, Chung IS (2012) Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. Ann Lab Med. 32(6):385–391CrossRefPubMedPubMedCentral
15.
Zurück zum Zitat Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR et al (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352(17):1779–1790CrossRefPubMed Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR et al (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352(17):1779–1790CrossRefPubMed
16.
Zurück zum Zitat Muramatsu H, Makishima H, Maciejewski JP (2012) Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions. Semin Oncol 39(1):67–73CrossRefPubMedPubMedCentral Muramatsu H, Makishima H, Maciejewski JP (2012) Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions. Semin Oncol 39(1):67–73CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat Provan D, Gribben JG (2010) Molecular hematology, 3rd edn. Wiley-Blackwell, OxfordCrossRef Provan D, Gribben JG (2010) Molecular hematology, 3rd edn. Wiley-Blackwell, OxfordCrossRef
18.
Zurück zum Zitat Quintás-Cardama A, Verstovsek S (2013) Molecular pathways: JAK/STAT pathway: mutations, inhibitors, and resistance. Clin Cancer Res 19(8):1933–1940CrossRefPubMedPubMedCentral Quintás-Cardama A, Verstovsek S (2013) Molecular pathways: JAK/STAT pathway: mutations, inhibitors, and resistance. Clin Cancer Res 19(8):1933–1940CrossRefPubMedPubMedCentral
19.
Zurück zum Zitat Kchour G, Tarhini M, Kooshyar MM, El Hajj H, Wattel E, Mahmoudi M et al (2009) Phase 2 study of the efficacy and safety of the combination of arsenic trioxide, interferon alpha, and zidovudine in newly diagnosed chronic adult T-cell leukemia/lymphoma (ATL). Blood 113(26):6528–6532CrossRefPubMed Kchour G, Tarhini M, Kooshyar MM, El Hajj H, Wattel E, Mahmoudi M et al (2009) Phase 2 study of the efficacy and safety of the combination of arsenic trioxide, interferon alpha, and zidovudine in newly diagnosed chronic adult T-cell leukemia/lymphoma (ATL). Blood 113(26):6528–6532CrossRefPubMed
20.
Zurück zum Zitat Mahieux R (2011) Virological aspects of HTLV-1 infection and new therapeutical concepts. Bull Soc Pathol Exot 104(3):181–187CrossRefPubMed Mahieux R (2011) Virological aspects of HTLV-1 infection and new therapeutical concepts. Bull Soc Pathol Exot 104(3):181–187CrossRefPubMed
21.
Zurück zum Zitat Vannucchi AM, Pancrazzi A, Bogani C, Antonioli E, Guglielmelli P (2006) A quantitative assay for JAK2 V617F mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia 20(6):1055–1060CrossRefPubMed Vannucchi AM, Pancrazzi A, Bogani C, Antonioli E, Guglielmelli P (2006) A quantitative assay for JAK2 V617F mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia 20(6):1055–1060CrossRefPubMed
22.
Zurück zum Zitat Pezeshkpoor F, Jafarian AH, Ghazvini K, Yazdanpanah MJ, Sadeghian A, Esmaili H, Karrabi M, Rohani F, Joushan B (2012) An association of human papillomaviruses low risk and high risk subtypes with skin tag. Iran J Basic Med Sci. 15(3):840–844PubMedPubMedCentral Pezeshkpoor F, Jafarian AH, Ghazvini K, Yazdanpanah MJ, Sadeghian A, Esmaili H, Karrabi M, Rohani F, Joushan B (2012) An association of human papillomaviruses low risk and high risk subtypes with skin tag. Iran J Basic Med Sci. 15(3):840–844PubMedPubMedCentral
23.
Zurück zum Zitat Sadeghian MH, Ayatollahi H, Keramati MR, Memar B, Jamedar SA, Avval MM, Sheikhi M, Shaghayegh G (2011) The association of Epstein-Barr virus infection with multiple myeloma. Indian J Pathol Microbiol 54(4):720–724PubMed Sadeghian MH, Ayatollahi H, Keramati MR, Memar B, Jamedar SA, Avval MM, Sheikhi M, Shaghayegh G (2011) The association of Epstein-Barr virus infection with multiple myeloma. Indian J Pathol Microbiol 54(4):720–724PubMed
24.
Zurück zum Zitat Sadeghian MH, Mohammadnia-Aval M, Ayatollahi H, Keramati MR, Memar B, Jamedar SA, Sheikhi M, Shaghayegh G (2013) Is there any relationship between human herpesvirus-8 and multiple Myeloma? Lymphoma. doi:10.1155/2013/123297 Sadeghian MH, Mohammadnia-Aval M, Ayatollahi H, Keramati MR, Memar B, Jamedar SA, Sheikhi M, Shaghayegh G (2013) Is there any relationship between human herpesvirus-8 and multiple Myeloma? Lymphoma. doi:10.​1155/​2013/​123297
25.
Zurück zum Zitat Nayereh KG, Khadem G (2012) Preventive and therapeutic vaccines against human papillomaviruses associated cervical cancers. Iran J Basic Med Sci. 15(1):585–601PubMedPubMedCentral Nayereh KG, Khadem G (2012) Preventive and therapeutic vaccines against human papillomaviruses associated cervical cancers. Iran J Basic Med Sci. 15(1):585–601PubMedPubMedCentral
26.
Zurück zum Zitat Hall WW, Fujii M (2005) Deregulation of cell-signaling pathways in HTLV-1 infection. Oncogene 24(39):5965–5975CrossRefPubMed Hall WW, Fujii M (2005) Deregulation of cell-signaling pathways in HTLV-1 infection. Oncogene 24(39):5965–5975CrossRefPubMed
27.
Zurück zum Zitat Sadeghian MH, Keramati MR, Ayatollahi H, Feizabadi AS, Tehranaian F, Shakibyee H (2012) Is there any relationship between expressions of minor blood group antigens with HTLV-I infection? Transfus Apher Sci. 47(2):151–154CrossRefPubMed Sadeghian MH, Keramati MR, Ayatollahi H, Feizabadi AS, Tehranaian F, Shakibyee H (2012) Is there any relationship between expressions of minor blood group antigens with HTLV-I infection? Transfus Apher Sci. 47(2):151–154CrossRefPubMed
28.
Zurück zum Zitat Mullighan CG, Zhang J, Harvey RC, Collins-Underwood JR, Schulman BA, Phillips LA et al (2009) JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc Natl Acad Sci USA 106(23):9414–9418CrossRefPubMedPubMedCentral Mullighan CG, Zhang J, Harvey RC, Collins-Underwood JR, Schulman BA, Phillips LA et al (2009) JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc Natl Acad Sci USA 106(23):9414–9418CrossRefPubMedPubMedCentral
29.
Zurück zum Zitat Kameda T, Shide K, Shimoda HK, Hidaka T, Kubuki Y, Katayose K et al (2010) Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma. Int J Hematol 92(2):320–325CrossRefPubMed Kameda T, Shide K, Shimoda HK, Hidaka T, Kubuki Y, Katayose K et al (2010) Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma. Int J Hematol 92(2):320–325CrossRefPubMed
30.
Zurück zum Zitat Tomita M, Kawakami H, Uchihara JN, Okudaira T, Masuda M, Matsuda T et al (2011) Retraction: inhibition of constitutively active Jak-Stat pathway suppresses cell growth of human T-cell leukemia virus type 1-infected T-cell lines and primary adult T-cell leukemia cells. Retrovirology 6(8):1CrossRef Tomita M, Kawakami H, Uchihara JN, Okudaira T, Masuda M, Matsuda T et al (2011) Retraction: inhibition of constitutively active Jak-Stat pathway suppresses cell growth of human T-cell leukemia virus type 1-infected T-cell lines and primary adult T-cell leukemia cells. Retrovirology 6(8):1CrossRef
31.
Zurück zum Zitat Ehrentraut S, Nagel S, Scherr ME, Schneider B, Quentmeier H, Geffers R et al (2013) t(8;9)(p22;p24)/PCM1-JAK2 activates SOCS2 and SOCS3 via STAT5. PLoS ONE 8(1):e53767CrossRefPubMedPubMedCentral Ehrentraut S, Nagel S, Scherr ME, Schneider B, Quentmeier H, Geffers R et al (2013) t(8;9)(p22;p24)/PCM1-JAK2 activates SOCS2 and SOCS3 via STAT5. PLoS ONE 8(1):e53767CrossRefPubMedPubMedCentral
32.
Zurück zum Zitat Hart S, Goh KC, Novotny-Diermayr V, Hu CY, Hentze H, Tan YC et al (2011) SB1518, a novel macrocyclic pyrimidine-based JAK2 inhibitor for the treatment of myeloid and lymphoid malignancies. Leukemia 25(11):1751–1759CrossRefPubMed Hart S, Goh KC, Novotny-Diermayr V, Hu CY, Hentze H, Tan YC et al (2011) SB1518, a novel macrocyclic pyrimidine-based JAK2 inhibitor for the treatment of myeloid and lymphoid malignancies. Leukemia 25(11):1751–1759CrossRefPubMed
33.
Zurück zum Zitat Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356(5):459–468CrossRefPubMedPubMedCentral Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356(5):459–468CrossRefPubMedPubMedCentral
34.
Zurück zum Zitat Percy MJ, McMullin MF (2005) The V617F JAK2 mutation and the myeloproliferative disorders. Hematol Oncol 23(3–4):91–93CrossRefPubMed Percy MJ, McMullin MF (2005) The V617F JAK2 mutation and the myeloproliferative disorders. Hematol Oncol 23(3–4):91–93CrossRefPubMed
35.
Zurück zum Zitat Yang J, Ikezoe T, Nishioka C, Furihata M, Yokoyama A (2010) AZ960, a novel JAK2 inhibitor, induces growth arrest and apoptosis in adult T-cell leukemia cells. Mol Cancer Ther 9(12):3386–3395CrossRefPubMed Yang J, Ikezoe T, Nishioka C, Furihata M, Yokoyama A (2010) AZ960, a novel JAK2 inhibitor, induces growth arrest and apoptosis in adult T-cell leukemia cells. Mol Cancer Ther 9(12):3386–3395CrossRefPubMed
Metadaten
Titel
JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma
verfasst von
Hossein Ayatollahi
Mohammad Hadi Sadeghian
Mohammad Reza Keramati
Ehsan Ghayoor Karimiani
Amir Hossein Jafarian
Abbas Shirdel
Hossein Rahimi
Mohammad Esmaeel Zangane-Far
Arezoo Shajiei
Maryam Sheikhi
Publikationsdatum
17.12.2015
Verlag
Springer India
Erschienen in
Indian Journal of Hematology and Blood Transfusion / Ausgabe 4/2016
Print ISSN: 0971-4502
Elektronische ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-015-0620-4

Weitere Artikel der Ausgabe 4/2016

Indian Journal of Hematology and Blood Transfusion 4/2016 Zur Ausgabe

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.