Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, Wang SA, Bagg A, Barbui T, Branford S, Bueso-Ramos CE, Cortes JE, Dal Cin P, DiNardo CD, Dombret H, Duncavage EJ, Ebert BL, Estey EH, Facchetti F, Foucar K, Gangat N, Gianelli U, Godley LA, Gokbuget N, Gotlib J, Hellstrom-Lindberg E, Hobbs GS, Hoffman R, Jabbour EJ, Kiladjian JJ, Larson RA, Le Beau MM, Loh ML, Lowenberg B, Macintyre E, Malcovati L, Mullighan CG, Niemeyer C, Odenike OM, Ogawa S, Orfao A, Papaemmanuil E, Passamonti F, Porkka K, Pui CH, Radich JP, Reiter A, Rozman M, Rudelius M, Savona MR, Schiffer CA, Schmitt-Graeff A, Shimamura A, Sierra J, Stock WA, Stone RM, Tallman MS, Thiele J, Tien HF, Tzankov A, Vannucchi AM, Vyas P, Wei AH, Weinberg OK, Wierzbowska A, Cazzola M, Dohner H, Tefferi A (2022) International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood 140:1200–1228. https://doi.org/10.1182/blood.2022015850

Article  CAS  PubMed  PubMed Central  Google Scholar 

Awada H, Nagata Y, Goyal A, Asad MF, Patel B, Hirsch CM, Kuzmanovic T, Guan Y, Przychodzen BP, Aly M, Adema V, Shen W, Williams L, Nazha A, Abazeed ME, Sekeres MA, Radivoyevitch T, Haferlach T, Jha BK, Visconte V, Maciejewski JP (2019) Invariant phenotype and molecular association of biallelic TET2 mutant myeloid neoplasia. Blood Adv 3:339–349. https://doi.org/10.1182/bloodadvances.2018024216

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernard E, Hasserjian RP, Greenberg PL, Arango Ossa JE, Creignou M, Tuechler H, Gutierrez-Abril J, Domenico D, Medina-Martinez JS, Levine M, Liosis K, Farnoud N, Sirenko M, Jädersten M, Germing U, Sanz G, van de Loosdrecht AA, Nannya Y, Kosmider O, Follo MY, Thol F, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase D, Ganster C, Ades L, Tobiasson M, Palomo L, Della Porta MG, Fenaux P, Belickova M, Savona MR, Klimek VM, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Solé F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih L-Y, Fontenay M, Jansen JH, Cervera J, Gattermann N, Ebert BL, Bejar R, Malcovati L, Ogawa S, Cazzola M, Hellström-Lindberg E, Papaemmanuil E (2024) Molecular taxonomy of myelodysplastic syndromes and its clinical implications. Blood 144:1617–1632. https://doi.org/10.1182/blood.2023023727

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, Yoshizato T, Shiozawa Y, Saiki R, Malcovati L, Levine MF, Arango JE, Zhou Y, Sole F, Cargo CA, Haase D, Creignou M, Germing U, Zhang Y, Gundem G, Sarian A, van de Loosdrecht AA, Jadersten M, Tobiasson M, Kosmider O, Follo MY, Thol F, Pinheiro RF, Santini V, Kotsianidis I, Boultwood J, Santos FPS, Schanz J, Kasahara S, Ishikawa T, Tsurumi H, Takaori-Kondo A, Kiguchi T, Polprasert C, Bennett JM, Klimek VM, Savona MR, Belickova M, Ganster C, Palomo L, Sanz G, Ades L, Della Porta MG, Elias HK, Smith AG, Werner Y, Patel M, Viale A, Vanness K, Neuberg DS, Stevenson KE, Menghrajani K, Bolton KL, Fenaux P, Pellagatti A, Platzbecker U, Heuser M, Valent P, Chiba S, Miyazaki Y, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Atsuta Y, Gattermann N, Ebert BL, Bejar R, Greenberg PL, Cazzola M, Hellstrom-Lindberg E, Ogawa S, Papaemmanuil E (2020) Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat Med 26:1549–1556. https://doi.org/10.1038/s41591-020-1008-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernard E, Tuechler H, Greenberg Peter L, Hasserjian Robert P, Arango Ossa Juan E, Nannya Y, Devlin Sean M, Creignou M, Pinel P, Monnier L, Gundem G, Medina-Martinez Juan S, Domenico D, Jädersten M, Germing U, Sanz G, van de Loosdrecht Arjan A, Kosmider O, Follo Matilde Y, Thol F, Zamora L, Pinheiro Ronald F, Pellagatti A, Elias Harold K, Haase D, Ganster C, Ades L, Tobiasson M, Palomo L, Della Porta Matteo G, Takaori-Kondo A, Ishikawa T, Chiba S, Kasahara S, Miyazaki Y, Viale A, Huberman K, Fenaux P, Belickova M, Savona Michael R, Klimek Virginia M, Santos Fabio PS, Boultwood J, Kotsianidis I, Santini V, Solé F, Platzbecker U, Heuser M, Valent P, Ohyashiki K, Finelli C, Voso Maria T, Shih L-Y, Fontenay M, Jansen Joop H, Cervera J, Gattermann N, Ebert Benjamin L, Bejar R, Malcovati L, Cazzola M, Ogawa S, Hellström-Lindberg E, Papaemmanuil E (2022) Molecular international prognostic scoring system for myelodysplastic syndromes. NEJM Evid 1:EVIDoa2200008. https://doi.org/10.1056/EVIDoa2200008

Article  PubMed  Google Scholar 

Garcia-Gisbert N, Arenillas L, Roman-Bravo D, Rodriguez-Sevilla JJ, Fernandez-Rodriguez C, Garcia-Avila S, Velez P, Gibert J, Fernandez-Ibarrondo L, Salar A, Florensa L, Bellosillo B, Ferrer A, Calvo X (2022) Multi-hit TET2 mutations as a differential molecular signature of oligomonocytic and overt chronic myelomonocytic leukemia. Leukemia 36:2922–2926. https://doi.org/10.1038/s41375-022-01733-8

Article  CAS  PubMed  Google Scholar 

Gerding WM, Tembrink M, Nilius-Eliliwi V, Mika T, Dimopoulos F, Ladigan-Badura S, Eckhardt M, Pohl M, Wunnenberg M, Farshi P, Reimer P, Schroers R, Nguyen HP, Vangala DB (2022) Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients. Int J Cancer 150:1998–2011. https://doi.org/10.1002/ijc.33942

Article  CAS  PubMed  Google Scholar 

Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, Bejar R, Berti E, Busque L, Chan JKC, Chen W, Chen X, Chng WJ, Choi JK, Colmenero I, Coupland SE, Cross NCP, De Jong D, Elghetany MT, Takahashi E, Emile JF, Ferry J, Fogelstrand L, Fontenay M, Germing U, Gujral S, Haferlach T, Harrison C, Hodge JC, Hu S, Jansen JH, Kanagal-Shamanna R, Kantarjian HM, Kratz CP, Li XQ, Lim MS, Loeb K, Loghavi S, Marcogliese A, Meshinchi S, Michaels P, Naresh KN, Natkunam Y, Nejati R, Ott G, Padron E, Patel KP, Patkar N, Picarsic J, Platzbecker U, Roberts I, Schuh A, Sewell W, Siebert R, Tembhare P, Tyner J, Verstovsek S, Wang W, Wood B, Xiao W, Yeung C, Hochhaus A (2022) The 5th edition of the world health organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia 36:1703–1719. https://doi.org/10.1038/s41375-022-01613-1

Article  PubMed  PubMed Central  Google Scholar 

Maciejewski JP, Tiu RV, O’Keefe C (2009) Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br J Haematol 146:479–488. https://doi.org/10.1111/j.1365-2141.2009.07757.x

Article  CAS  PubMed  Google Scholar 

Neveling K, Mantere T, Vermeulen S, Oorsprong M, van Beek R, Kater-Baats E, Pauper M, van der Zande G, Smeets D, Weghuis DO, Stevens-Kroef M, Hoischen A (2021) Next-generation cytogenetics: comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. Am J Hum Genet 108:1423–1435. https://doi.org/10.1016/j.ajhg.2021.06.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Peterson JF, Aggarwal N, Smith CA, Gollin SM, Surti U, Rajkovic A, Swerdlow SH, Yatsenko SA (2015) Integration of microarray analysis into the clinical diagnosis of hematological malignancies: how much can we improve cytogenetic testing? Oncotarget 6(22):18845

Article  PubMed  PubMed Central  Google Scholar 

Smith AC, Neveling K, Kanagal-Shamanna R (2022) Optical genome mapping for structural variation analysis in hematologic malignancies. Am J Hematol 97:975–982. https://doi.org/10.1002/ajh.26587

Article  CAS  PubMed  Google Scholar 

Weinberg OK, Siddon A, Madanat YF, Gagan J, Arber DA, Dal Cin P, Narayanan D, Ouseph MM, Kurzer JH, Hasserjian RP (2022) TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML. Blood Adv 6:2847–2853. https://doi.org/10.1182/bloodadvances.2021006239

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang H, Garcia-Manero G, Sasaki K, Montalban-Bravo G, Tang Z, Wei Y, Kadia T, Chien K, Rush D, Nguyen H, Kalia A, Nimmakayalu M, Bueso-Ramos C, Kantarjian H, Medeiros LJ, Luthra R, Kanagal-Shamanna R (2022) High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia 36:2306–2316. https://doi.org/10.1038/s41375-022-01652-8

Article  CAS  PubMed  PubMed Central  Google Scholar