New progress in the study of germline susceptibility genes of myeloid neoplasms (Review)
- Authors:
- Lei Bi
- Tianyuan Ma
- Xu Li
- Lai Wei
- Zinuo Liu
- Bingyue Feng
- Baoxia Dong
- Xiequn Chen
-
Affiliations: Department of Hematology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China, Department of Stomatology, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China, College of Basic Medicine, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China - Published online on: February 23, 2021 https://doi.org/10.3892/ol.2021.12578
- Article Number: 317
-
Copyright: © Bi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
This article is mentioned in:
Abstract
|
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M and Vardiman JW: The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 127:2391–2405. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Geyer JT: Myeloid neoplasms with germline predisposition. Pathobiology. 86:53–61. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
McReynolds LJ, Yang Y, Yuen Wong H, Tang J, Zhang Y, Mulé MP, Daub J, Palmer C, Foruraghi L, Liu Q, et al: MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. Leuk Res. 76:70–75. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Wen XM, Hu JB, Yang J, Qian W, Yao DM, Deng ZQ, Zhang YY, Zhu XW, Guo H, Lin J and Qian J: CEBPA methylation and mutation in myelodysplastic syndrome. Med Oncol. 32:1922015. View Article : Google Scholar : PubMed/NCBI | |
|
Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW, Treleaven J, Georgiades P, et al: Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 126:1214–1223. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Smith ML, Cavenagh JD, Lister TA and Fitzgibbon J: Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 351:2403–2407. 2004. View Article : Google Scholar : PubMed/NCBI | |
|
Cammenga J, Mulloy JC, Berguido FJ, MacGrogan D, Viale A and Nimer SD: Induction of C/EBPalpha activity alters gene expression and differentiation of human CD34+ cells. Blood. 101:2206–2214. 2003. View Article : Google Scholar : PubMed/NCBI | |
|
Zhang P, Iwasaki-Arai J, Iwasaki H, Fenyus ML, Dayaram T, Owens BM, Shigematsu H, Levantini E, Huettner CS, Lekstrom-Himes JA, et al: Enhancement of hematopoietic stem cell repopulating capacity and self-renewal in the absence of the transcription factor C/EBP alpha. Immunity. 21:853–863. 2004. View Article : Google Scholar : PubMed/NCBI | |
|
Schwieger M, Löhler J, Fischer M, Herwig U, Tenen DG and Stocking C: A dominant-negative mutant of C/EBPalpha, associated with acute myeloid leukemias, inhibits differentiation of myeloid and erythroid progenitors of man but not mouse. Blood. 103:2744–2752. 2004. View Article : Google Scholar : PubMed/NCBI | |
|
Sellick GS, Spendlove HE, Catovsky D, Pritchard-Jones K and Houlston RS: Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia. 19:1276–1278. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Nanri T, Uike N, Kawakita T, Iwanaga E, Mitsuya H and Asou N: A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation. Genes Chromosomes Cancer. 49:237–241. 2010.PubMed/NCBI | |
|
Pabst T, Eyholzer M, Haefliger S, Schardt J and Mueller BU: Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol. 26:5088–5093. 2008. View Article : Google Scholar : PubMed/NCBI | |
|
Renneville A, Mialou V, Philippe N, Kagialis-Girard S, Biggio V, Zabot MT, Thomas X, Bertrand Y and Preudhomme C: Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia. 23:804–806. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Yan B, Ng C, Moshi G, Ban K, Lee PL, Seah E, Chiu L, Koay ES, Liu TC, Ng CH, et al: Myelodysplastic features in a patient with germline CEBPA-mutant acute myeloid leukaemia. J Clin Pathol. 69:652–654. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Cheah JJC, Hahn CN, Hiwase DK, Scott HS and Brown AL: Myeloid neoplasms with germline DDX41 mutation. Int J Hematol. 106:163–174. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Jiang Y, Zhu Y, Qiu W, Liu YJ, Cheng G, Liu ZJ and Ouyang S: Structural and functional analyses of human DDX41 DEAD domain. Protein Cell. 8:72–76. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N, Singh J, Padgett RA, Gu X, Phillips JG, et al: Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 27:658–670. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, et al: Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 127:1017–1023. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, et al: Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. Leukemia. 30:2083–2086. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Li R, Sobreira N, Witmer PD, Pratz KW and Braunstein EM: Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica. 101:e228–e231. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Al-Harbi S, Aljurf M, Mohty M, Almohareb F and Ahmed SOA: An update on the molecular pathogenesis and potential therapeutic targeting of AML with t(8;21)(q22;q22.1);RUNX1-RUNX1T1. Blood Adv. 4:229–238. 2020. View Article : Google Scholar : PubMed/NCBI | |
|
Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, Suzushima H, Takatsuki K, Kanno T, Shigesada K and Ito Y: Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. Blood. 93:1817–1824. 1999. View Article : Google Scholar : PubMed/NCBI | |
|
Ismael O, Shimada A, Hama A, Elshazley M, Muramatsu H, Goto A, Sakaguchi H, Tanaka M, Takahashi Y, Yinyan X, et al: De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. Brit J Haematol. 158:129–137. 2012. View Article : Google Scholar | |
|
Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon M, Sinclair GD, Leber B, et al: Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 112:4639–4645. 2008. View Article : Google Scholar : PubMed/NCBI | |
|
Cavalcante de Andrade Silva M, Krepischi ACV, Kulikowski LD, Zanardo EA, Nardinelli L, Leal AM, Costa SS, Muto NH, Rocha V and Velloso EDRP: Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. Cancer Genet. 222-223:32–37. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Harada Y and Harada H: Molecular mechanisms that produce secondary MDS/AML by RUNX1/AML1 point mutations. J Cell Biochem. 112:425–432. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Galera P, Dulau-Florea A and Calvo KR: Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia. Int J Lab Hematol. 41 (Suppl 1):S131–S141. 2019. View Article : Google Scholar | |
|
Ding LW, Ikezoe T, Tan KT, Mori M, Mayakonda A, Chien W, Lin DC, Jiang YY, Lill M, Yang H, et al: Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency. Leukemia. 31:244–245. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
An WB, Liu C, Wan Y, Chen XY, Guo Y, Chen XJ, Yang WY, Chen YM, Zhang YC and Zhu XF: Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome. Zhonghua Xue Ye Xue Za Zhi. 40:477–483. 2019.(In Chinese). PubMed/NCBI | |
|
Wang X, Muramatsu H, Okuno Y, Sakaguchi H, Yoshida K, Kawashima N, Xu Y, Shiraishi Y, Chiba K, Tanaka H, et al: GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies. Haematologica. 100:e398–e401. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, et al: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 127:1387–1397, 1518. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, et al: Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica. 97:890–894. 2012. View Article : Google Scholar : PubMed/NCBI | |
|
Pasquet M, Bellanné-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, et al: High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 121:822–829. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Hahn CN, Brautigan PJ, Chong CE, Janssan A, Venugopal P, Lee Y, Tims AE, Horwitz MS, Klingler-Hoffmann M and Scott HS: Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. Leukemia. 29:1795–1797. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Kralovics R, Passamonti F, Buser AS, Teo S, Tiedt R, Passweg JR, Tichelli A, Cazzola M and Skoda RC: A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 352:1779–1790. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Engle EK, Fisher DA, Miller CA, McLellan MD, Fulton RS, Moore DM, Wilson RK, Ley TJ and Oh ST: Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia. Leukemia. 29:869–876. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Yoshimitsu M, Hachiman M, Uchida Y, Arima N, Arai A, Kamada Y, Shide K, Ito M, Shimoda K and Ishitsuka K: Essential thrombocytosis attributed to JAK2-T875N germline mutation. Int J Hematol. 110:584–590. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, et al: Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood. 123:1372–1383. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Etheridge SL, Cosgrove ME, Sangkhae V, Corbo LM, Roh ME, Seeliger MA, Chan EL and Hitchcock IS: A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood. 123:1059–1068. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, et al: Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 102:282–294. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, et al: Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 101:1333–1342. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, Devidas M, Yang W, Cheng C, Cao X, Quinn E, et al: Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: A systematic genetic study. Lancet Oncol. 16:1659–1666. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, et al: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 47:180–185. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, et al: Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 11:e10052622015. View Article : Google Scholar : PubMed/NCBI | |
|
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, et al: Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 47:535–538. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP and Gotlib J: Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 116:988–992. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Maslah N, Cassinat B, Verger E, Kiladjian JJ and Velazquez L: The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. Leukemia. 31:1661–1670. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Yano M, Imamura T, Asai D, Deguchi T, Hashii Y, Endo M, Sato A, Kawasaki H, Kosaka Y, Kato K, et al: Clinical significance of SH2B3 (LNK) expression in paediatric B-cell precursor acute lymphoblastic leukaemia. Br J Haematol. 183:327–330. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
McMullin MF and Cario H: LNK mutations and myeloproliferative disorders. Am J Hematol. 91:248–251. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Luque Paz D, Boyer F, Beucher A, Bouvier A, Jouanneau-Courville R, Guardiola P, Lambert D, Delneste Y, Hunault M, Blanchet O and Ugo V: Concomitant CALR and LNK mutations leading to essential thrombocythemia with erythrocytosis. Blood Cells Mol Dis. 71:75–76. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Spolverini A, Pieri L, Guglielmelli P, Pancrazzi A, Fanelli T, Paoli C, Bosi A, Nichele I, Ruggeri M and Vannucchi AM: Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative ‘idiopathic’ erythrocytosis. Haematologica. 98:e101–e102. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Loscocco GG, Mannarelli C, Pacilli A, Fanelli T, Rotunno G, Gesullo F, Corbizi-Fattori G, Vannucchi AM and Guglielmelli P: Germline transmission of LNKE208Q variant in a family with myeloproliferative neoplasms. Am J Hematol. 91:E3562016. View Article : Google Scholar : PubMed/NCBI | |
|
Rumi E, Harutyunyan AS, Pietra D, Feenstra JD, Cavalloni C, Roncoroni E, Casetti I, Bellini M, Milanesi C, Renna MC, et al: LNK mutations in familial myeloproliferative neoplasms. Blood. 128:144–145. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Oh ST, Zahn JM, Jones CD, Zhang B, Loh ML, Kantarjian H, Simonds EF, Bruggner RV, Abidi P, Natsoulis G, et al: Identification of novel LNK mutations in patients with chronic myeloproliferative neoplasms and related disorders. Blood. 116:3152010. View Article : Google Scholar | |
|
Babushok DV, Stanley NL, Morrissette JJD, Lieberman DB, Olson TS, Chou ST and Hexner EO: Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32. Leukemia. 32:2720–2723. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Plo I, Bellanné-Chantelot C and Vainchenker W: ATG2B and GSKIP: 2 new genes predisposing to myeloid malignancies. Mol Cell Oncol. 3:e10945642015. View Article : Google Scholar : PubMed/NCBI | |
|
Hu D, Zhang S, Zhao Y, Wang S, Wang Q, Song X, Lu D, Mao Y and Chen H: Association of genetic variants in the retinoblastoma binding protein 6 gene with the risk of glioma: A case-control study in a Chinese Han population. J Neurosurg. 121:1209–1218. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Mbita Z, Meyer M, Skepu A, Hosie M, Rees J and Dlamini Z: De-regulation of the RBBP6 isoform 3/DWNN in human cancers. Mol Cell Biochem. 362:249–262. 2012. View Article : Google Scholar : PubMed/NCBI | |
|
Rumi E and Cazzola M: Advances in understanding the pathogenesis of familial myeloproliferative neoplasms. Brit J Haematol. 178:689–698. 2017. View Article : Google Scholar | |
|
Harutyunyan AS, Giambruno R, Krendl C, Stukalov A, Klampfl T, Berg T, Chen D, Milosevic Feenstra JD, Jäger R, Gisslinger B, et al: Germline RBBP6 mutations in familial myeloproliferative neoplasms. Blood. 127:362–365. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, et al: SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 48:792–797. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, et al: Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families. Blood. 117:6673–6680. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Takaoka K, Kawazu M, Koya J, Yoshimi A, Masamoto Y, Maki H, Toya T, Kobayashi T, Nannya Y, Arai S, et al: A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination. Leukemia. 33:1773–1782. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Duployez N, Lejeune S, Renneville A and Preudhomme C: Myelodysplastic syndromes and acute leukemia with genetic predispositions: A new challenge for hematologists. Expert Rev Hematol. 9:1189–1202. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Townsley DM, Dumitriu B and Young NS: Bone marrow failure and the telomeropathies. Blood. 124:2775–2783. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A, Kiss R, Vályi-Nagy I, Csomor J, Matolcsy A and Bödör C: Familial acute myeloid leukemia and myelodysplasia in hungary. Pathol Oncol Res. 24:83–88. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
McReynolds LJ, Zhang Y, Yang Y, Tang J, Mulé M, Hsu AP, Townsley DM, West RR, Zhu J, Hickstein DD, et al: Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation. Leuk Res Rep. 12:1001762019.PubMed/NCBI | |
|
Rafei H and DiNardo CD: Hereditary myeloid malignancies. Best Pract Res Clin Haematol. 32:163–176. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Wiggins M and Stevenson W: Genetic predisposition in acute leukaemia. Int J Lab Hematol. 42 (Suppl 1):S75–S81. 2020. View Article : Google Scholar | |
|
Babushok DV, Bessler M and Olson TS: Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma. 57:520–536. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Nannya Y, Tobiasson M, Bernard E, Sato S, Creignou M, Takeda J, Anying Z, Shiraishi Y, Chiba K, Tanaka H, et al: Molecular characteristics that predict response to azacitidine therapy. Blood. 134 (Suppl 1):42462019. View Article : Google Scholar | |
|
Galera P, Hsu AP, Wang W, Droll S, Chen R, Schwartz JR, Klco JM, Arai S, Maese L, Zerbe C, et al: Donor-derived MDS/AML in families with germline GATA2 mutation. Blood. 132:1994–1998. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Bochtler T, Haag G, Schott S, Kloor M, Krämer A and Müller-Tidow C: Hematological malignancies in adults with a family predisposition. Dtsch Arztebl Int. 115:848–854. 2018.PubMed/NCBI | |
|
Miller LH, Qu CK and Pauly M: Germline mutations in the bone marrow microenvironment and dysregulated hematopoiesis. Exp Hematol. 66:17–26. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Wolf DP, Mitalipov PA and Mitalipov SM: Principles of and strategies for germline gene therapy. Nat Med. 25:890–897. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Qu S, Li B, Qin T, Xu Z, Pan L, Hu N, Huang G, Peter Gale R and Xiao Z: Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations. Br J Haematol. Apr 19–2020.(Epub ahead of print). View Article : Google Scholar | |
|
Jones L, McCarthy P and Bond J: Epigenetics of paediatric acute myeloid leukaemia. Brit J Haematol. 188:63–76. 2020. View Article : Google Scholar | |
|
Liu XL, Liu HQ, Li J, Mao CY, He JT and Zhao X: Role of epigenetic in leukemia: From mechanism to therapy. Chem Biol Interact. 317:1089632020. View Article : Google Scholar : PubMed/NCBI | |
|
Becker MMM, Lapouge K, Segnitz B, Wild K and Sinning I: Structures of human SRP72 complexes provide insights into SRP RNA remodeling and ribosome interaction. Nucleic Acids Res. 45:470–481. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Tamary H and Alter BP: Current diagnosis of inherited bone marrow failure syndromes. Pediatr Hemat Oncol. 24:87–99. 2007. View Article : Google Scholar | |
|
Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, et al: Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. Blood. 125:793–802. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T and Dokal I: Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica. 92:1013–1020. 2007. View Article : Google Scholar : PubMed/NCBI | |
|
Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E and Young NS: Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 102:916–918. 2003. View Article : Google Scholar : PubMed/NCBI | |
|
Yan S, Han B, Wu Y, Zhou D and Zhao Y: Telomerase gene mutation screening and telomere overhang detection in Chinese patients with acute myeloid leukemia. Leuk Lymphoma. 54:1437–1441. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Both A, Krauter J, Damm F, Thol F, Göhring G, Heuser M, Ottmann O, Lübbert M, Wattad M, Kanz L, et al: The hypomorphic TERT A1062T variant is associated with increased treatment-related toxicity in acute myeloid leukemia. Ann Hematol. 96:895–904. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM and Young NS: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 352:1413–1424. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Chiang YH, Chang YC, Lin HC, Huang L, Cheng CC, Wang WT, Cheng HI, Su NW, Chen CG, Lin J, et al: Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population. Oncotarget. 8:76204–76213. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Trifa AP, Bănescu C, Bojan AS, Voina CM, Popa Ș, Vișan S, Ciubean AD, Tripon F, Dima D, Popov VM, et al: MECOM, HBS1L-MYB, THRB-RARB, JAK2, and TERT polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients. Am J Hematol. 93:100–106. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Oddsson A, Kristinsson SY, Helgason H, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Steingrimsdottir H, Vidarsson B, et al: The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms. Leukemia. 28:1371–1374. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Kim HJ, Choi EJ, Sohn HJ, Park SH, Min WS and Kim TG: Combinatorial molecular marker assays of WT1, survivin, and TERT at initial diagnosis of adult acute myeloid leukemia. Eur J Haematol. 91:411–422. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Aref S, El-Ghonemy MS, Abouzeid TE, El-Sabbagh AM and El-Baiomy MA: Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML). Med Oncol. 31:1582014. View Article : Google Scholar : PubMed/NCBI | |
|
Akram Z, Ahmed P, Kajigaya S, Satti TM, Satti HS, Chaudhary QUN, Gutierrez-Rodrigues F, Ibanez PF, Feng X, Mahmood SK, et al: Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan. Ann Hematol. 98:301–312. 2019. View Article : Google Scholar : PubMed/NCBI |
