Hypoplastic myelodysplastic syndrome and acquired aplastic anemia: Immune‑mediated bone marrow failure syndromes (Review)
- Authors:
- Hana Votavova
- Monika Belickova
-
Affiliations: Department of Genomics, Institute of Hematology and Blood Transfusion, Prague 128 00, Czech Republic - Published online on: December 23, 2021 https://doi.org/10.3892/ijo.2021.5297
- Article Number: 7
-
Copyright: © Votavova et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
This article is mentioned in:
Abstract
 |
 |
|
Germing U, Aul C, Niemeyer CM, Haas R and Bennett JM: Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes. Ann Hematol. 87:691–699. 2008. View Article : Google Scholar : PubMed/NCBI | |
|
Germing U, Strupp C, Kündgen A, Bowen D, Aul C, Haas R and Gattermann N: No increase in age-specific incidence of myelodysplastic syndromes. Haematologica. 89:905–910. 2004. | |
|
Durrani J and Maciejewski JP: Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program. 2019:97–104. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
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 | |
|
Bono E, McLornan D, Travaglino E, Gandhi S, Gallì A, Khan AA, Kulasekararaj AG, Boveri E, Raj K, Elena C, et al: Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome. Leukemia. 33:2495–2505. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Huang TC, Ko BS, Tang JL, Hsu C, Chen CY, Tsay W, Huang SY, Yao M, Chen YC, Shen MC, et al: Comparison of hypoplastic myelodysplastic syndrome (MDS) with normo-/hypercellular MDS by International prognostic scoring system, cytogenetic and genetic studies. Leukemia. 22:544–550. 2008. View Article : Google Scholar | |
|
Marisavljevic D, Cemerikic V, Rolovic Z, Boskovic D and Colovic M: Hypocellular myelodysplastic syndromes: Clinical and biological significance. Med Oncol. 22:169–175. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Yue G, Hao S, Fadare O, Baker S, Pozdnyakova O, Galili N, Woda BA, Raza A and Wang SA: Hypocellularity in myelodysplastic syndrome is an independent factor which predicts a favorable outcome. Leuk Res. 32:553–558. 2008. View Article : Google Scholar | |
|
Stahl M, DeVeaux M, de Witte T, Neukirchen J, Sekeres MA, Brunner AM, Roboz GJ, Steensma DP, Bhatt VR, Platzbecker U, et al: The use of immunosuppressive therapy in MDS: Clinical outcomes and their predictors in a large international patient cohort. Blood Adv. 2:1765–1772. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Selleri C, Maciejewski JP, Catalano L, Ricci P, Andretta C, Luciano L and Rotoli B: Effects of cyclosporine on hematopoietic and immune functions in patients with hypoplastic myelodysplasia: In vitro and in vivo studies. Cancer. 95:1911–1922. 2002. View Article : Google Scholar | |
|
Gil-Perez A and Montalban-Bravo G: Management of myelodysplastic syndromes after failure of response to hypomethylating agents. Ther Adv Hematol. 10:20406207198470592019. View Article : Google Scholar : PubMed/NCBI | |
|
Nazha A, Narkhede M, Radivoyevitch T, Seastone DJ, Patel BJ, Gerds AT, Mukherjee S, Kalaycio M, Advani A, Przychodzen B, et al: Incorporation of molecular data into the revised international prognostic scoring system in treated patients with myelodysplastic syndromes. Leukemia. 30:2214–2220. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Bond DR, Lee HJ and Enjeti AK: Unravelling the epigenome of myelodysplastic syndrome: Diagnosis, prognosis, and response to therapy. Cancers (Basel). 12:–3128. 2020. View Article : Google Scholar | |
|
Zhou M, Wu L, Zhang Y, Mo W, Li Y, Chen X, Wang C, Pan S, Xu S, Zhou W, et al: Outcome of allogeneic hematopoietic stem cell transplantation for hypoplastic myelodysplastic syndrome. Int J Hematol. 112:825–834. 2020. View Article : Google Scholar : PubMed/NCBI | |
|
Issaragrisil S, Kaufman DW, Anderson T, Chansung K, Leaverton PE, Shapiro S and Young NS: The epidemiology of aplastic anemia in Thailand. Blood. 107:1299–1307. 2006. View Article : Google Scholar | |
|
Shallis RM, Ahmad R and Zeidan AM: Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts. Eur J Haematol. 101:711–720. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Alter BP: Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2007:29–39. 2007. View Article : Google Scholar | |
|
Young NS: Aplastic anemia. N Engl J Med. 379:1643–1656. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Afable MG II, Tiu RV and Maciejewski JP: Clonal evolution in aplastic anemia. Hematology Am Soc Hematol Educ Program. 2011:90–95. 2011. View Article : Google Scholar | |
|
Risitano AM: Immunosuppressive therapies in the management of acquired immune-mediated marrow failures. Curr Opin Hematol. 19:3–13. 2012. View Article : Google Scholar | |
|
Koh Y, Lee HR, Kim HK, Kim I, Park S, Park MH, Kim BK, Yoon SS and Lee DS: Hypoplastic myelodysplastic syndrome (h-MDS) is a distinctive clinical entity with poorer prognosis and frequent karyotypic and FISH abnormalities compared to aplastic anemia (AA). Leuk Res. 34:1344–1350. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Fattizzo B, Dunlop A, Ireland R, Kassam S, Yallop D, Mufti G, Marsh J and Kulasekararaj A: Prevalence of small PNH clones and their prognostic significance in patients tested for unusual indications: A single center experience. Br J Haematol. 185:1252019. | |
|
Kulasekararaj AG, Jiang J, Smith AE, Mohamedali AM, Mian S, Gandhi S, Gaken J, Czepulkowski B, Marsh JC and Mufti GJ: Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood. 124:2698–2704. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Zhu Y, Gao Q, Hu J, Liu X, Guan D and Zhang F: Allo-HSCT compared with immunosuppressive therapy for acquired aplastic anemia: A system review and meta-analysis. BMC Immunol. 21:102020. View Article : Google Scholar : | |
|
Bennett JM and Orazi A: Diagnostic criteria to distinguish hypocellular acute myeloid leukemia from hypocellular myelodysplastic syndromes and aplastic anemia: Recommendations for a standardized approach. Haematologica. 94:264–268. 2009. View Article : Google Scholar | |
|
Feng X, Scheinberg P, Wu CO, Samsel L, Nunez O, Prince C, Ganetzky RD, McCoy JP Jr, Maciejewski JP and Young NS: Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes. Haematologica. 96:602–606. 2011. View Article : Google Scholar : | |
|
Warlick ED and Smith BD: Myelodysplastic syndromes: Review of pathophysiology and current novel treatment approaches. Curr Cancer Drug Targets. 7:541–558. 2007. View Article : Google Scholar : PubMed/NCBI | |
|
Ganguly BB and Kadam NN: Mutations of myelodysplastic syndromes (MDS): An update. Mutat Res Rev Mutat Res. 769:47–62. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Nazha A, Seastone D, Radivoyevitch T, Przychodzen B, Carraway HE, Patel BJ, Carew J, Makishima H, Sekeres MA and Maciejewski JP: Genomic patterns associated with hypoplastic compared to hyperplastic myelodysplastic syndromes. Haematologica. 100:e434–e437. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Yao CY, Hou HA, Lin TY, Lin CC, Chou WC, Tseng MH, Chiang YC, Liu MC, Liu CW, Kuo YY, et al: Distinct mutation profile and prognostic relevance in patients with hypoplastic myelodysplastic syndromes (h-MDS). Oncotarget. 7:63177–63188. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Schwartz JR, Ma J, Lamprecht T, Walsh M, Wang S, Bryant V, Song G, Wu G, Easton J, Kesserwan C, et al: The genomic landscape of pediatric myelodysplastic syndromes. Nat Commun. 8:15572017. View Article : Google Scholar : PubMed/NCBI | |
|
Mufti GJ and Marsh JCW: Somatic mutations in aplastic anemia. Hematol Oncol Clin North Am. 32:595–607. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Stanley N, Olson TS and Babushok DV: Recent advances in understanding clonal haematopoiesis in aplastic anaemia. Br J Haematol. 177:509–525. 2017. View Article : Google Scholar : | |
|
Yoshizato T, Dumitriu B, Hosokawa K, Makishima H, Yoshida K, Townsley D, Sato-Otsubo A, Sato Y, Liu D, Suzuki H, et al: Somatic mutations and clonal hematopoiesis in aplastic anemia. N Engl J Med. 373:35–47. 2015. View Article : Google Scholar | |
|
Marsh JC and Kulasekararaj AG: Management of the refractory aplastic anemia patient: What are the options? Blood. 122:3561–3567. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T and Shimamura A: Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 101:1343–1350. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Huang J, Ge M, Lu S, Shi J, Li X, Zhang J, Wang M, Yu W, Shao Y, Huang Z, et al: Mutations of ASXL1 and TET2 in aplastic anemia. Haematologica. 100:e172–e175. 2015. View Article : Google Scholar : | |
|
Heuser M, Schlarmann C, Dobbernack V, Panagiota V, Wiehlmann L, Walter C, Beier F, Ziegler P, Yun H, Kade S, et al: Genetic characterization of acquired aplastic anemia by targeted sequencing. Haematologica. 99:e165–e167. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Lekka E and Hall J: Noncoding RNAs in disease. FEBS Lett. 592:2884–2900. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Kuang X, Chi J and Wang L: Deregulated microRNA expression and its pathogenetic implications for myelodysplastic syndromes. Hematology. 21:593–602. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Rhyasen GW and Starczynowski DT: Deregulation of microRNAs in myelodysplastic syndrome. Leukemia. 26:13–22. 2012. View Article : Google Scholar | |
|
Dostalova Merkerova M, Krejcik Z, Votavova H, Belickova M, Vasikova A and Cermak J: Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome. Eur J Hum Genet. 19:313–319. 2011. View Article : Google Scholar : | |
|
Sokol L, Caceres G, Volinia S, Alder H, Nuovo GJ, Liu CG, McGraw K, Clark JA, Sigua CA, Chen DT, et al: Identification of a risk dependent microRNA expression signature in myelodysplastic syndromes. Br J Haematol. 153:24–32. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Boultwood J, Fidler C, Strickson AJ, Watkins F, Gama S, Kearney L, Tosi S, Kasprzyk A, Cheng JF, Jaju RJ and Wainscoat JS: Narrowing and genomic annotation of the commonly deleted region of the 5q-syndrome. Blood. 99:4638–4641. 2002. View Article : Google Scholar : PubMed/NCBI | |
|
Pidíkova P, Reis R and Herichova I: miRNA clusters with down-regulated expression in human colorectal cancer and their regulation. Int J Mol Sci. 21:46332020. View Article : Google Scholar : | |
|
Takagi T, Iio A, Nakagawa Y, Naoe T, Tanigawa N and Akao Y: Decreased expression of microRNA-143 and -145 in human gastric cancers. Oncology. 77:12–21. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Starczynowski DT, Kuchenbauer F, Argiropoulos B, Sung S, Morin R, Muranyi A, Hirst M, Hogge D, Marra M, Wells RA, et al: Identification of miR-145 and miR-146a as mediators of the 5q-syndrome phenotype. Nat Med. 16:49–58. 2010. View Article : Google Scholar | |
|
Votavova H, Grmanova M, Dostalova Merkerova M, Belickova M, Vasikova A, Neuwirtova R and Cermak J: Differential expression of microRNAs in CD34+ cells of 5q-syndrome. J Hematol Oncol. 4:12011. View Article : Google Scholar | |
|
Barreyro L, Chlon TM and Starczynowski DT: Chronic immune response dysregulation in MDS pathogenesis. Blood. 132:1553–1560. 2018. View Article : Google Scholar : | |
|
Gañán-Gómez I, Wei Y, Yang H, Pierce S, Bueso-Ramos C, Calin G, Boyano-Adánez Mdel C and García-Manero G: Overexpression of miR-125a in myelodysplastic syndrome CD34+ cells modulates NF-κB activation and enhances erythroid differentiation arrest. PLoS One. 9:e934042014. View Article : Google Scholar | |
|
Srivastava J, Chaturvedi CP, Rahman K, Gupta R, Sharma A, Chandra D, Singh MK, Gupta A, Yadav S and Nityanand S: Differential expression of miRNAs and their target genes: Exploring a new perspective of acquired aplastic anemia pathogenesis. Int J Lab Hematol. 42:501–509. 2020. View Article : Google Scholar : PubMed/NCBI | |
|
Lu S, Yadav AK and Qiao X: Identification of potential miRNA-mRNA interaction network in bone marrow T cells of acquired aplastic anemia. Hematology. 25:168–175. 2020. View Article : Google Scholar : PubMed/NCBI | |
|
Adhikari S and Mandal P: Integrated analysis of global gene and microRNA expression profiling associated with aplastic anaemia. Life Sci. 228:47–52. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Hosokawa K, Kajigaya S, Feng X, Desierto MJ, Fernandez Ibanez MD, Rios O, Weinstein B, Scheinberg P, Townsley DM and Young NS: A plasma microRNA signature as a biomarker for acquired aplastic anemia. Haematologica. 102:69–78. 2017. View Article : Google Scholar | |
|
Hosokawa K, Muranski P, Feng X, Keyvanfar K, Townsley DM, Dumitriu B, Chen J, Kajigaya S, Taylor JG, Hourigan CS, et al: Identification of novel microRNA signatures linked to acquired aplastic anemia. Haematologica. 100:1534–1545. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Sun YX, Li H, Feng Q, Li X, Yu YY, Zhou LW, Gao Y, Li GS, Ren J, Ma CH, et al: Dysregulated miR34a/diacylglycerol kinase ζ interaction enhances T-cell activation in acquired aplastic anemia. Oncotarget. 8:6142–6154. 2017. View Article : Google Scholar | |
|
Giudice V, Banaszak LG, Gutierrez-Rodrigues F, Kajigaya S, Panjwani R, Ibanez MDPF, Rios O, Bleck CK, Stempinski ES, Raffo DQ, et al: Circulating exosomal microRNAs in acquired aplastic anemia and myelodysplastic syndromes. Haematologica. 103:1150–1159. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Benetatos L, Hatzimichael E, Dasoula A, Dranitsaris G, Tsiara S, Syrrou M, Georgiou I and Bourantas KL: CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes. Leuk Res. 34:148–153. 2010. View Article : Google Scholar | |
|
Szikszai K, Krejcik Z, Klema J, Loudova N, Hrustincova A, Belickova M, Hruba M, Vesela J, Stranecky V, Kundrat D, et al: LncRNA profiling reveals that the deregulation of H19, WT1-AS, TCL6, and LEF1-AS1 is associated with higher-risk myelodysplastic syndrome. Cancers (Basel). 12:27262020. View Article : Google Scholar | |
|
Yao CY, Chen CH, Huang HH, Hou HA, Lin CC, Tseng MH, Kao CJ, Lu TP, Chou WC and Tien HF: A 4-lncRNA scoring system for prognostication of adult myelodysplastic syndromes. Blood Adv. 1:1505–1516. 2017. View Article : Google Scholar | |
|
Liu K, Beck D, Thoms JAI, Liu L, Zhao W, Pimanda JE and Zhou X: Annotating function to differentially expressed LincRNAs in myelodysplastic syndrome using a network-based method. Bioinformatics. 33:2622–2630. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Wu Z, Gao S, Zhao X, Chen J, Keyvanfar K, Feng X, Kajigaya S and Young NS: Long noncoding RNAs of single hematopoietic stem and progenitor cells in healthy and dysplastic human bone marrow. Haematologica. 104:894–906. 2019. View Article : Google Scholar : | |
|
Hung SY, Lin CC, Hsu CL, Yao CY, Wang YH, Tsai CH, Hou HA, Chou WC and Tien HF: The expression levels of long non-coding RNA KIAA0125 are associated with distinct clinical and biological features in myelodysplastic syndromes. Br J Haematol. 192:589–598. 2021. View Article : Google Scholar | |
|
Li N, Ma Y, Wang W, Yin CC, Wu W, Sun R, Zhao G, Li S and Wang X: LOC101928834, a novel lncRNA in Wnt/β-catenin signaling pathway, promotes cell proliferation and predicts poor clinical outcome in myelodysplastic syndromes. Clin Sci (Lond). 134:1279–1293. 2020. View Article : Google Scholar | |
|
Congrains-Castillo A, Niemann FS, Santos Duarte AS and Olalla-Saad ST: LEF1-AS1 long non-coding RNA, inhibits proliferation in myeloid malignancy. J Cell Mol Med. 23:3021–3025. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Wang J, Liu X, Hao C, Lu Y, Duan X, Liang R, Gao G and Zhang T: MEG3 modulates TIGIT expression and CD4 + T cell activation through absorbing miR-23a. Mol Cell Biochem. 454:67–76. 2019. View Article : Google Scholar | |
|
Jiang S, Xia M, Yang J, Shao J, Liao X, Zhu J and Jiang H: Novel insights into a treatment for aplastic anemia based on the advanced proliferation of bone marrow-derived mesenchymal stem cells induced by fibroblast growth factor 1. Mol Med Rep. 12:7877–7882. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Lu S, Song X, Chen J and Qiao X: Identification of differentially expressed lncRNAs and mRNAs in children with acquired aplastic anemia by RNA sequencing. Biomed Res Int. 2020:89620902020. View Article : Google Scholar : | |
|
Risitano AM, Maciejewski JP, Green S, Plasilova M, Zeng W and Young NS: In-vivo dominant immune responses in aplastic anaemia: Molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet. 364:355–364. 2004. View Article : Google Scholar | |
|
Risitano AM, Kook H, Zeng W, Chen G, Young NS and Maciejewski JP: Oligoclonal and polyclonal CD4 and CD8 lymphocytes in aplastic anemia and paroxysmal nocturnal hemoglobinuria measured by V beta CDR3 spectratyping and flow cytometry. Blood. 100:178–183. 2002. View Article : Google Scholar : PubMed/NCBI | |
|
Melenhorst JJ, Eniafe R, Follmann D, Nakamura R, Kirby M and Barrett AJ: Molecular and flow cytometric characterization of the CD4 and CD8 T-cell repertoire in patients with myelodys- plastic syndrome. Br J Haematol. 119:97–105. 2002. View Article : Google Scholar | |
|
Fozza C, Contini S, Galleu A, Simula MP, Virdis P, Bonfigli S and Longinotti M: Patients with myelodysplastic syndromes display several T-cell expansions, which are mostly polyclonal in the CD4(+) subset and oligoclonal in the CD8(+) subset. Exp Hematol. 37:947–955. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Kochenderfer JN, Kobayashi S, Wieder ED, Su C and Molldrem JJ: Loss of T-lymphocyte clonal dominance in patients with myelodysplastic syndrome responsive to immunosuppression. Blood. 100:3639–3645. 2002. View Article : Google Scholar | |
|
Li X, Xu F, He Q, Wu L, Zhang Z and Chang C: Comparison of immunological abnormalities of lymphocytes in bone marrow in myelodysplastic syndrome (MDS) and aplastic anemia (AA). Intern Med. 49:1349–1355. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Solomou EE, Rezvani K, Mielke S, Malide D, Keyvanfar K, Visconte V, Kajigaya S, Barrett AJ and Young NS: Deficient CD4+ CD25+ FOXP3+ T regulatory cells in acquired aplastic anemia. Blood. 110:1603–1606. 2007. View Article : Google Scholar : PubMed/NCBI | |
|
Bouchliou I, Miltiades P, Nakou E, Spanoudakis E, Goutzouvelidis A, Vakalopoulou S, Garypidou V, Kotoula V, Bourikas G, Tsatalas C and Kotsianidis I: Th17 and Foxp3(+) T regulatory cell dynamics and distribution in myelodysplastic syndromes. Clin Immunol. 139:350–359. 2011. View Article : Google Scholar | |
|
Sloand EM and Barrett AJ: Immunosuppression for myelodys- plastic syndrome: How bench to bedside to bench research led to success. Hematol Oncol Clin North Am. 24:331–341. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Sloand EM, Mainwaring L, Fuhrer M, Ramkissoon S, Risitano AM, Keyvanafar K, Lu J, Basu A, Barrett AJ and Young NS: Preferential suppression of trisomy 8 compared with normal hematopoietic cell growth by autologous lymphocytes in patients with trisomy 8 myelodysplastic syndrome. Blood. 106:841–851. 2005. View Article : Google Scholar | |
|
Sloand EM, Melenhorst JJ, Tucker ZC, Pfannes L, Brenchley JM, Yong A, Visconte V, Wu C, Gostick E, Scheinberg P, et al: T-cell immune responses to Wilms tumor 1 protein in myelodysplasia responsive to immunosuppressive therapy. Blood. 117:2691–2699. 2011. View Article : Google Scholar : | |
|
Kitagawa M, Saito I, Kuwata T, Yoshida S, Yamaguchi S, Takahashi M, Tanizawa T, Kamiyama R and Hirokawa K: Overexpression of tumor necrosis factor (TNF)-alpha and interferon (IFN)-gamma by bone marrow cells from patients with myelodysplastic syndromes. Leukemia. 11:2049–2054. 1997. View Article : Google Scholar | |
|
Allampallam K, Shetty VT and Raza A: Cytokines and MDS. Cancer Treat Res. 108:93–100. 2001. View Article : Google Scholar : PubMed/NCBI | |
|
Stifter G, Heiss S, Gastl G, Tzankov A and Stauder R: Over-expression of tumor necrosis factor-alpha in bone marrow biopsies from patients with myelodysplastic syndromes: Relationship to anemia and prognosis. Eur J Haematol. 75:485–491. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Zhang Z, Li X, Guo J, Xu F, He Q, Zhao Y, Yang Y, Gu S, Zhang Y, Wu L and Chang C: Interleukin-17 enhances the production of interferon-γ and tumour necrosis factor-α by bone marrow T lymphocytes from patients with lower risk myelodysplastic syndromes. Eur J Haematol. 90:375–384. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Fattizzo B, Serpenti F, Barcellini W and Caprioli C: Hypoplastic myelodysplastic syndromes: Just an overlap syndrome? Cancers (Basel). 13:1322021. View Article : Google Scholar | |
|
Giudice V, Feng X, Lin Z, Hu W, Zhang F, Qiao W, Ibanez MDPF, Rios O and Young NS: Deep sequencing and flow cytometric characterization of expanded effector memory CD8+CD57+ T cells frequently reveals T-cell receptor Vβ oligoclonality and CDR3 homology in acquired aplastic anemia. Haematologica. 103:759–769. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
de Latour RP, Visconte V, Takaku T, Wu C, Erie AJ, Sarcon AK, Desierto MJ, Scheinberg P, Keyvanfar K, Nunez O, et al: Th17 immune responses contribute to the pathophysiology of aplastic anemia. Blood. 116:4175–4184. 2010. View Article : Google Scholar : | |
|
Vibhuti, Tripathy NK and Nityanand S: Massive apoptosis of bone marrow cells in aplastic anaemia. Br J Haematol. 117:993–994. 2002. View Article : Google Scholar : PubMed/NCBI | |
|
Callera F and Falcão RP: Increased apoptotic cells in bone marrow biopsies from patients with aplastic anaemia. Br J Haematol. 98:18–20. 1997. View Article : Google Scholar : PubMed/NCBI | |
|
Callera F, Garcia AB and Falcão RP: Fas-mediated apoptosis with normal expression of bcl-2 and p53 in lymphocytes from aplastic anaemia. Br J Haematol. 100:698–703. 1998. View Article : Google Scholar : PubMed/NCBI | |
|
Kordasti S, Costantini B, Seidl T, Perez Abellan P, Martinez Llordella M, McLornan D, Diggins KE, Kulasekararaj A, Benfatto C, Feng X, et al: Deep phenotyping of Tregs identifies an immune signature for idiopathic aplastic anemia and predicts response to treatment. Blood. 128:1193–1205. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Young NS and Maciejewski JP: Genetic and environmental effects in paroxysmal nocturnal hemoglobinuria: This little PIG-A goes 'Why? Why? Why?'. J Clin Invest. 106:637–641. 2000. View Article : Google Scholar : PubMed/NCBI | |
|
Gargiulo L, Papaioannou M, Sica M, Talini G, Chaidos A, Richichi B, Nikolaev AV, Nativi C, Layton M, de la Fuente J, et al: Glycosylphosphatidylinositol-specific, CD1d-restricted T cells in paroxysmal nocturnal hemoglobinuria. Blood. 121:2753–2761. 2013. View Article : Google Scholar | |
|
Hanaoka N, Kawaguchi T, Horikawa K, Nagakura S, Mitsuya H and Nakakuma H: Immunoselection by natural killer cells of PIGA mutant cells missing stress-inducible ULBP. Blood. 107:1184–1191. 2006. View Article : Google Scholar | |
|
Shen W, Clemente MJ, Hosono N, Yoshida K, Przychodzen B, Yoshizato T, Shiraishi Y, Miyano S, Ogawa S, Maciejewski JP and Makishima H: Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. J Clin Invest. 124:4529–4538. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Sadighi Akha AA: Aging and the immune system: An overview. J Immunol Methods. 463:21–26. 2018. View Article : Google Scholar | |
|
Gidvani V, Ramkissoon S, Sloand EM and Young NS: Cytokine gene polymorphisms in acquired bone marrow failure. Am J Hematol. 82:721–724. 2007. View Article : Google Scholar : PubMed/NCBI | |
|
Saunthararajah Y, Nakamura R, Nam JM, Robyn J, Loberiza F, Maciejewski JP, Simonis T, Molldrem J, Young NS and Barrett AJ: HLA-DR15 (DR2) is overrepresented in myelodysplastic syndrome and aplastic anemia and predicts a response to immunosuppression in myelodysplastic syndrome. Blood. 100:1570–1574. 2002. View Article : Google Scholar : PubMed/NCBI | |
|
Maciejewski JP, Follmann D, Nakamura R, Saunthararajah Y, Rivera CE, Simonis T, Brown KE, Barrett JA and Young NS: Increased frequency of HLA-DR2 in patients with paroxysmal nocturnal hemoglobinuria and the PNH/aplastic anemia syndrome. Blood. 98:3513–3519. 2001. View Article : Google Scholar : PubMed/NCBI | |
|
Wang H, Chuhjo T, Yasue S, Omine M and Nakao S: Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood. 100:3897–3902. 2002. View Article : Google Scholar | |
|
Katagiri T, Sato-Otsubo A, Kashiwase K, Morishima S, Sato Y, Mori Y, Kato M, Sanada M, Morishima Y, Hosokawa K, et al: Frequent loss of HLA alleles associated with copy number-neutral 6p LOH in acquired aplastic anemia. Blood. 118:6601–6609. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Osumi T, Miharu M, Saji H, Kusunoki Y, Kojima H, Nakamura J and Shimada H: Nonsense mutation in HLA-B*40-02 in a case with acquired aplastic anaemia: A possible origin of clonal escape from autoimmune insult. Br J Haematol. 162:706–707. 2013. View Article : Google Scholar | |
|
Babushok DV, Duke JL, Xie HM, Stanley N, Atienza J, Perdigones N, Nicholas P, Ferriola D, Li Y, Huang H, et al: Somatic HLA mutations expose the role of class I-mediated autoimmunity in aplastic anemia and its clonal complications. Blood Adv. 1:1900–1910. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Zijlstra M, Bix M, Simister NE, Loring JM, Raulet DH and Jaenisch R: Beta 2-microglobulin deficient mice lack CD4-8+ cytolytic T cells. Nature. 344:742–746. 1990. View Article : Google Scholar : PubMed/NCBI | |
|
Brümmendorf TH, Maciejewski JP, Mak J, Young NS and Lansdorp PM: Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood. 97:895–900. 2001. View Article : Google Scholar | |
|
Scheinberg P, Cooper JN, Sloand EM, Wu CO, Calado RT and Young NS: Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. JAMA. 304:1358–1364. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Boultwood J, Fidler C, Kusec R, Rack K, Elliott PJ, Atoyebi O, Chapman R, Oscier DG and Wainscoat JS: Telomere length in myelodysplastic syndromes. Am J Hematol. 56:266–271. 1997. View Article : Google Scholar : PubMed/NCBI | |
|
Rollison DE, Epling-Burnette PK, Park JY, Lee JH, Park H, Jonathan K, Cole AL, Painter JS, Guerrier M, Meléndez-Santiago J, et al: Telomere length in myelodysplastic syndromes. Leuk Lymphoma. 52:1528–1536. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Sanz GF, Sanz MA and Greenberg PL: Prognostic factors and scoring systems in myelodysplastic syndromes. Haematologica. 83:358–368. 1998.PubMed/NCBI | |
|
Bouillon AS, Ferreira MS, Werner B, Hummel S, Panse JP, Reinecke P, Schemenau J, Haas R, Traulsen A, Bruemmendorf TH, et al: Comprehensive analysis of telomere biology in patients with aplastic anemia and hypoplastic myelodysplastic syndrome: Further evidence for a common mechanism. Blood. 126:28582015. View Article : Google Scholar | |
|
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 | |
|
Ueda Y, Calado RT, Norberg A, Kajigaya S, Roos G, Hellstrom-Lindberg E and Young NS: A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Med Genet. 15:682014. View Article : Google Scholar : PubMed/NCBI | |
|
Young NS: Current concepts in the pathophysiology and treatment of aplastic anemia. Hematology Am Soc Hematol Educ Program. 2013:76–81. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Savage SA, Calado RT, Xin ZT, Ly H, Young NS and Chanock SJ: Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol. 34:664–671. 2006. View Article : Google Scholar | |
|
Marsh JCW, Gutierrez-Rodrigues F, Cooper J, Jiang J, Gandhi S, Kajigaya S, Feng X, Ibanez MDPF, Donaires FS, Lopes da Silva JP, et al: Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2:36–48. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Thol F, Friesen I, Damm F, Yun H, Weissinger EM, Krauter J, Wagner K, Chaturvedi A, Sharma A, Wichmann M, et al: Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 29:2499–2506. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Jerez A, Clemente MJ, Makishima H, Rajala H, Gómez-Seguí I, Olson T, McGraw K, Przychodzen B, Kulasekararaj A, Afable M, et al: STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelo- dysplastic syndrome patients. Blood. 122:2453–2459. 2013. View Article : Google Scholar : | |
|
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, et al: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 345:1623–1627. 2014. View Article : Google Scholar | |
|
Wlodarski MW, Collin M and Horwitz MS: GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 54:81–86. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Ogawa S: Clonal hematopoiesis in acquired aplastic anemia. Blood. 128:337–347. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
West RR, Stafford DA, White AD, Bowen DT and Padua RA: Cytogenetic abnormalities in the myelodysplastic syndromes and occupational or environmental exposure. Blood. 95:2093–2097. 2000. View Article : Google Scholar | |
|
Negoro E, Nagata Y, Clemente MJ, Hosono N, Shen W, Nazha A, Yoshizato T, Hirsch C, Przychodzen B, Mahfouz RZ, et al: Origins of myelodysplastic syndromes after aplastic anemia. Blood. 130:1953–1957. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Pons A, Nomdedeu B, Navarro A, Gaya A, Gel B, Diaz T, Valera S, Rozman M, Belkaid M, Montserrat E and Monzo M: Hematopoiesis-related microRNA expression in myelodysplastic syndromes. Leuk Lymphoma. 50:1854–1859. 2009. View Article : Google Scholar | |
|
Krejčík Z, Beličková M, Hruštincová A, Kléma J, Zemanová Z, Michalová K, Čermák J, Jonášová A and Dostálová Merkerová M: Aberrant expression of the microRNA cluster in 14q32 is associated with del(5q) myelodysplastic syndrome and lenalidomide treatment. Cancer Genet. 208:156–161. 2015. View Article : Google Scholar | |
|
Starczynowski DT, Kuchenbauer F, Wegrzyn J, Rouhi A, Petriv O, Hansen CL, Humphries RK and Karsan A: MicroRNA-146a disrupts hematopoietic differentiation and survival. Exp Hematol. 39:167–178.e4. 2011. View Article : Google Scholar | |
|
Chen Y, Zhao G, Li N, Luo Z, Wang X and Gu J: Role of 4-aminobutyrate aminotransferase (ABAT) and the lncRNA co-expression network in the development of myelodysplastic syndrome. Oncol Rep. 42:509–520. 2019.PubMed/NCBI | |
|
Kordasti S, Marsh J, Al-Khan S, Jiang J, Smith A, Mohamedali A, Abellan PP, Veen C, Costantini B, Kulasekararaj AG, et al: Functional characterization of CD4+ T cells in aplastic anemia. Blood. 119:2033–2043. 2012. View Article : Google Scholar | |
|
Serio B, Risitano A, Giudice V, Montuori N and Selleri C: Immunological derangement in hypocellular myelodysplastic syndromes. Transl Med UniSa. 8:31–42. 2014.PubMed/NCBI | |
|
Kordasti SY, Afzali B, Lim Z, Ingram W, Hayden J, Barber L, Matthews K, Chelliah R, Guinn B, Lombardi G, et al: IL-17-producing CD4(+) T cells, pro-inflammatory cytokines and apoptosis are increased in low risk myelodysplastic syndrome. Br J Haematol. 145:64–72. 2009. View Article : Google Scholar | |
|
Zhang HF, Huang ZD, Wu XR, Li Q and Yu ZF: Comparison of T lymphocyte subsets in aplastic anemia and hypoplastic myelodysplastic syndromes. Life Sci. 189:71–75. 2017. View Article : Google Scholar : PubMed/NCBI | |
|
Serio B, Selleri C and Maciejewski JP: Impact of immunogenetic polymorphisms in bone marrow failure syndromes. Mini Rev Med Chem. 11:544–552. 2011. View Article : Google Scholar : PubMed/NCBI |
