Diagnosis and treatment of sideroblastic anemias: From defective heme synthesis to abnormal RNA splicing

Hematology (United States)

Volumn 2015, Issue 1, 2015, Pages 19-25

  Cazzola, Mario ^a,b   Malcovati, Luca ^a,b  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALAS2 PROTEIN; ERYTHROID SPECIFIC ALA SYNTHASE; PROTEIN; SLC25A38 PROTEIN; SYNTHETASE; UNCLASSIFIED DRUG; HEME; PYRIDOXINE;

AGE RELATED CLONAL HEMATOPOIESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CLONAL ACQUIRED SIDEROBLASTIC ANEMIA; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ERYTHROPOIESIS; GENE EXPRESSION; GERMLINE MUTATION; HEMATOPOIESIS; HEME SYNTHESIS; HUMAN; IRON OVERLOAD; LATE ONSET DISORDER; PATHOPHYSIOLOGY; PENETRANCE; PHENOTYPE; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; RNA SPLICING; SIDEROBLASTIC ANEMIA; SOMATIC MUTATION; X LINKED SIDEROBLASTIC ANEMIA; ALTERNATIVE RNA SPLICING; ANEMIA, REFRACTORY; ANEMIA, SIDEROBLASTIC; ANIMAL; BIOSYNTHESIS; DISEASE MODEL; ERYTHROCYTE TRANSFUSION; FEMALE; GENETICS; HEMIZYGOTE; MALE; METABOLISM; MUTATION; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME;

ALTERNATIVE SPLICING; ANEMIA, REFRACTORY; ANEMIA, SIDEROBLASTIC; ANIMALS; DISEASE MODELS, ANIMAL; ERYTHROCYTE TRANSFUSION; ERYTHROPOIESIS; FEMALE; HEME; HEMIZYGOTE; HUMANS; MALE; MUTATION; PYRIDOXINE; RNA SPLICING; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME;

EID: 85010933922     PISSN: 15204391     EISSN: 15204383     Source Type: Journal    
DOI: 10.1182/asheducation-2015.1.19     Document Type: Article

References (48)

1. Cazzola M, Invernizzi R. Ring sideroblasts and sideroblastic anemias. Haematologica. 2011;96(6):789-792.
2. Mufti GJ, Bennett JM, Goasguen J, et al. Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica. 2008;93(11):1712-1717.
3. Fleming MD. Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program. 2011;2011:525-531.
4. Campagna DR, de Bie CI, Schmitz-Abe K, et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol. 2014;89(3):315-319.
5. Kaneko K, Furuyama K, Fujiwara T, et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. Haematologica. 2014;99(2):252-261.
6. Sankaran VG, Ulirsch JC, Tchaikovskii V, et al. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2015;125(4):1665-1669.
7. Cazzola M, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. Blood. 2002;100(12):4236-4238.
8. Cotter PD, May A, Li L, et al. Four new mutations in the erythroidspecific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 1999;93(5):1757-1769.
9. Cazzola M, Barosi G, Bergamaschi G, et al. Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol. 1983;54(4):649-654.
10. Kautz L, Nemeth E. Molecular liaisons between erythropoiesis and iron metabolism. Blood. 2014;124(4):479-482.
11. Kautz L, Jung G, Valore EV, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014;46(7):678-684.
12. Cotter PD, May A, Fitzsimons EJ, et al. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest. 1995;96(4):2090-2096.
13. Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood. 2000;96(13):4363-4365.
14. Genovese G, Kahler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477-2487.
15. Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26): 2488-2498.
16. Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9-16.
17. May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998;83(1): 56-70.
18. Guernsey DL, Jiang H, Campagna DR, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009;41(6):651-653.
19. Bergmann AK, Campagna DR, McLoughlin EM, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatric Blood Cancer. 2010;54(2):273-278.
20. Kannengiesser C, Sanchez M, Sweeney M, et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011;96(6):808-813.
21. Malcovati L, Cazzola M. Refractory anemia with ring sideroblasts. Best Pract Res Clin Haematol. 2013;26(4):377-385.
22. Swerdlow SH, Campo E, Harris NL, et al. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon, France: International Agency for Research on Cancer; 2008.
23. Cazzola M, Malcovati L, Invernizzi R. Myelodysplastic/myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2011;2011: 264-272.
24. Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15):1384-1395.
25. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
26. Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239-6246.
27. Cazzola M, Rossi M, Malcovati L. Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood. 2013;121(2):260-269.
28. Kim E, Ilagan JO, Liang Y, et al. SRSF2 Mutations contribute to myelodysplasia by mutant-specific effects on exon recognition. Cancer Cell. 2015;27(5):617-630.
29. Shirai CL, Ley JN, White BS, et al. Mutant U2AF1 expression alters hematopoiesis and pre-mRNA splicing in vivo. Cancer Cell. 2015;27(5): 631-643.
30. Shiozawa Y, Sato-Otsubo S, Galli A, et al. Comprehensive analysis of aberrant RNA splicing in myelodysplastic syndromes [abstract]. Blood. 2014;124(21):Abstract 826.
31. McKerrell T, Park N, Moreno T, et al. Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis. Cell Rep. 2015;10(8):1239-1245.
32. Boultwood J, Pellagatti A, Nikpour M, et al. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS One. 2008;3(4):e1970.
33. Buonamici S, Perino S, Lim KH, et al. SF3B1 mutantions induce aberrant splicing leading to a block in erythroid differentiation and competitive advantage [abstract]. Leukemia Res. 2015;39(Suppl 1): Abstract 21.
34. Malcovati L, Karimi M, Papaemmanuil E, et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood. 2015;126(2):233-241.
35. Ambaglio I, Malcovati L, Papaemmanuil E, et al. Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1. Haematologica. 2013;98(3):420-423.
36. Malcovati L, Della Porta MG, Pascutto C, et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol. 2005;23(30):7594-7603.
37. Hellstrom-Lindberg E, Ahlgren T, Beguin Y, et al. Treatment of anemia in myelodysplastic syndromes with granulocyte colony-stimulating factor plus erythropoietin: results from a randomized phase II study and long-term follow-up of 71 patients. Blood. 1998;92(1):68-75.
38. Hellstrom-Lindberg E, Gulbrandsen N, Lindberg G, et al. A validated decision model for treating the anaemia of myelodysplastic syndromes with erythropoietin granulocyte colony-stimulating factor: significant effects on quality of life. Br J Haematol. 2003;120(6):1037-1046.
39. Cazzola M, Malcovati L. Myelodysplastic syndromes-coping with ineffective hematopoiesis. N Engl J Med. 2005;352(6):536-538.
40. Della Porta MG, Malcovati L, Strupp C, et al. Risk stratification based on both disease status and extra-hematologic comorbidities in patients with myelodysplastic syndrome. Haematologica. 2011;96(3):441-449.
41. Cazzola M, Barosi G, Gobbi PG, Invernizzi R, Riccardi A, Ascari E. Natural history of idiopathic refractory sideroblastic anemia. Blood. 1988;71(2):305-312.
42. Cazzola M, Anderson JE, Ganser A, Hellstrom-Lindberg E. A patientoriented approach to treatment of myelodysplastic syndromes. Haematologica. 1998;83(10):910-935.
43. Cutler CS, Lee SJ, Greenberg P, et al. A decision analysis of allogeneic bone marrow transplantation for the myelodysplastic syndromes: delayed transplantation for low-risk myelodysplasia is associated with improved outcome. Blood. 2004;104(2):579-585.
44. Fenaux P, Mufti GJ, Hellstrom-Lindberg E, et al. Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study. Lancet Oncol. 2009;10(3):223-232.
45. Dussiot M, Maciel TT, Fricot A, et al. An activin receptor IIA ligand trap corrects ineffective erythropoiesis in beta-thalassemia. Nat Med. 2014;20(4):398-407.
46. Suragani RN, Cadena SM, Cawley SM, et al. Transforming growth factor-beta superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis. Nat Med. 2014;20(4):408-414.
47. Platzbecker U, Germing U, Giagounidis A, et al. ACE-536 increases hemoglobin and reduces transfusion burden in patients with low or intermediate-1 risk myelodysplastic syndromes (MDS): preliminary results from a phase 2 study [abstract]. Blood. 2014;124(21):Abstract 411.
48. Komrokji R, Garcia-Manero G, Ades L, et al. Low-risk myelodysplastic syndromes (MDS) and anemia requiring transfusion [abstract]. Haematologica. 2015;100(6 Suppl 1):Abstract S510.