Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DRlow/neg monocytes in lower-risk myelodysplastic neoplasms

被引：0

作者：

Winter, Susann ^{[1
]}

Schneider, Marie ^{[2
]}

Oelschlaegel, Uta ^{[1
]}

Maggioni, Giulia ^{[3
,4
]}

Riva, Elena ^{[3
,4
]}

Raddi, Marco Gabriele ^{[5
]}

Bencini, Sara ^{[6
]}

Peruzzi, Benedetta ^{[6
]}

Choy, Desmond ^{[3
]}

Antunes Dos Reis, Rita ^{[3
]}

Guese, Esther ^{[7
,8
]}

Lischer, Christopher ^{[7
,8
]}

Vera, Julio ^{[7
,8
]}

Timms, Jessica A. ^{[3
]}

Sompairac, Nicolas ^{[3
]}

Sockel, Katja ^{[1
]}

Poloni, Antonella ^{[9
]}

Tunger, Antje ^{[10
,11
,12
,13
,14
,15
]}

Della Porta, Matteo Giovanni ^{[4
,16
]}

Santini, Valeria ^{[5
]}

Schmitz, Marc ^{[10
,11
,12
,13
,14
,15
,17
,18
]}

Platzbecker, Uwe ^{[2
,17
,18
,19
]}

Kordasti, Shahram ^{[3
,9
,20
]}

机构：

[1] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Fac Med Carl Gustav Carus, Dept Internal Med 1, Dresden, Germany

[2] Univ Leipzig Med Ctr, Dept Hematol Cellular Therapy & Hemostaseol & Inf, Leipzig, Germany

[3] Kings Coll London, Comprehens Canc Ctr, Sch Canc & Pharmaceut Sci, London, England

[4] IRCCS Humanitas Res Hosp, Milan, Italy

[5] Univ Florence, AOU Careggi Dept Expt & Clin Med, MDS Unit, Hematol, Florence, Italy

[6] AOU Careggi, Flow Cytometry Diagnost Ctr & Immunotherapy CDCI, Florence, Italy

[7] Friedrich Alexander Univ Erlangen Nurnberg, Lab Syst Tumor Immunol, Univ klinikum Erlangen, Erlangen, Germany

[8] Comprehens Canc Ctr Erlangen EMN, Deutsch Zent Immuntherapie, Erlangen, Germany

[9] Univ Politecn Marche, Dept Clin & Mol Sci, Ancona, Italy

[10] Tech Univ Dresden, Inst Immunol, Fac Med Carl Gustav Carus, Dresden, Germany

[11] Natl Ctr Tumor Dis NCT, Dresden, Germany

[12] Tech Univ Dresden, German Canc Res Ctr DKFZ, Dresden, Germany

[13] Tech Univ Dresden, Fac Med, Dresden, Germany

[14] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dresden, Germany

[15] Helmholtz Zentrum Dresden Rossendorf HZDR, Dresden, Germany

[16] Humanitas Univ, Dept Biomed Sci, Milan, Italy

[17] German Canc Consortium DKTK, Partner Site Dresden, Heidelberg, Germany

[18] German Canc Res Ctr, Heidelberg, Germany

[19] German MDS Study Grp D MDS, Leipzig, Germany

[20] Guys Hosp, Haematol Dept, London, England

来源：

LEUKEMIA | 2024年 / 38卷 / 06期

关键词：

IMMUNOSUPPRESSIVE THERAPY; MDS;

D O I：

10.1038/s41375-024-02249-z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：1427 / 1431

页数：5

共 35 条

[21] Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
Quesada, Victor
Conde, Laura
Villamor, Neus
Ordonez, Gonzalo R.
Jares, Pedro
Bassaganyas, Laia
Ramsay, Andrew J.
Bea, Silvia
Pinyol, Magda
Martinez-Trillos, Alejandra
Lopez-Guerra, Monica
Colomer, Dolors
Navarro, Alba
Baumann, Tycho
Aymerich, Marta
Rozman, Maria
Delgado, Julio
Gine, Eva
Hernandez, Jesus M.
Gonzalez-Diaz, Marcos
Puente, Diana A.
Velasco, Gloria
Freije, Jose M. P.
Tubio, Jose M. C.
Royo, Romina
Gelpi, Josep L.
Orozco, Modesto
Pisano, David G.
Zamora, Jorge
Vazquez, Miguel
Valencia, Alfonso
Himmelbauer, Heinz
Bayes, Monica
Heath, Simon
Gut, Marta
Gut, Ivo
Estivill, Xavier
Lopez-Guillermo, Armando
Puente, Xose S.
Campo, Elias
Lopez-Otin, Carlos
NATURE GENETICS, 2012, 44 (01) : 47 - 52
[22] Splicing Factor 3b Subunit 1 (SF3B1) Heterozygous Mice Manifest a Hematologic Phenotype Similar To Low Risk Myelodysplastic Syndromes With Ring Sideroblasts
Visconte, Valeria
Rogers, Heesun J.
Tabarroki, Ali
Zhang, Li
Parker, Yvonne
Hasrouni, Edy
Mahfouz, Reda Z.
Ebrahem, Quteba
Isono, Kyoichi
Koseki, Haruhiko
Advani, Anjali S.
Saunthararajah, Yogen
Sekeres, Mikkael A.
Lindner, Daniel
Barnard, John
Tiu, Ramon V.
BLOOD, 2013, 122 (21)
[23] SF3B1 mutations in the Driver Clone Increase the Risk of Evolution to Myelofibrosis in Patients with Myeloproliferative Neoplasms (MPN)
Zhao, Lin-Pierre
De Oliveira, Rafael Daltro
Marcault, Clemence
Soret, Juliette
Gauthier, Nicolas
Verger, Emmanuelle
Maslah, Nabih
Roux, Blandine
Parquet, Nathalie
Dosquet, Christine
Rea, Delphine
Zini, Jean-Marc
Vainchenker, William
Raffoux, Emmanuel
Giraudier, Stephane
Cassinat, Bruno
Kiladjian, Jean-Jacques
Benajiba, Lina
BLOOD, 2020, 136
[24] Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype
Duetz, Carolien
Westers, Theresia M.
in 't Hout, Florentien E. M.
Cremers, Eline M. P.
Alhan, Canan
Venniker-Punt, Bianca
Visser-Wisselaar, Heleen A.
Chitu, Dana A.
de Graaf, Aniek O.
Smit, Linda
Jansen, Joop H.
van de Loosdrecht, Arjan A.
BRITISH JOURNAL OF HAEMATOLOGY, 2021, 193 (04) : 798 - 803
[25] Synthetic Introns Identify the Novel RNA Splicing Factor GPATCH8 As Required for Mis-Splicing Induced By SF3B1 Mutations
Benbarche, Salima
Pineda, Jose Maria Bello
Galvis, Laura Baquero
Liu, Bo
Biswas, Jeetayu
Wang, Eric
Lyttle, K. Ashley
Lewis, Alexander M.
Sarchi, Martina
Mehta, Sanjoy
Garippa, Ralph
Ortiz-Pacheco, Juliana
Li, Zhuoning
Monetti, Mara
Stanley, Robert
Doulatov, Sergei
Bradley, Robert K.
Abdel-Wahab, Omar
BLOOD, 2023, 142
[26] Splicing Factor 3b Subunit 1 (SF3B1) mediates Mitochondrial Iron Overload In Myelodysplastic Syndromes With Ring Sideroblasts By Alternative Splicing Of Mitoferrin-1 (SLC25A37)
Visconte, Valeria
Mahfouz, Reda Z.
Barnard, John
Tabarroki, Ali
Zhang, Li
Hasrouni, Edy
Rogers, Heesun J.
Avishai, Nanthawan
Cowen, Jonathan
Sharghi-Moshtaghin, Reza
Hitomi, Midori
Lindner, Daniel
Heuer, Arthur
Lichtin, Alan E.
Advani, Anjali S.
Fibach, Eitan
Rachmilewitz, Eli A.
Kalaycio, Matt
Sekeres, Mikkael A.
Saunthararajah, Yogen
Tiu, Ramon V.
BLOOD, 2013, 122 (21)
[27] Somatic Mutations in Splicing Factor 3b, Subunit 1 (SF3B1) Are a Useful Biomarker to Differentiate Between Clonal and Non-Clonal Causes of Sideroblastic Anemia
Visconte, Valeria
Tabarroki, Ali
Gerace, Christopher
Al-Issa, Karam
Hsi, Eric D.
Rogers, Heesun J.
Sekeres, Mikkael A.
Silver, Bernard J.
Lichtin, Alan E.
Mukherjee, Sudipto
Tiu, Ramon V.
BLOOD, 2014, 124 (21)
[28] Single-Cell Multi-Omics Defines the Cell-Type Specific Impact of SF3B1 Splicing Factor Mutations on Hematopoietic Differentiation in Human Clonal Hematopoiesis and Myelodysplastic Syndromes
Gaiti, Federico
Hawkins, Allegra
Chamely, Paulina
Swett, Ariel
Dai, Xiaoguang
Kluegel, Lloyd
Chen, Celine
Beaulaurier, John
Drong, Alex
Hickey, Scott
Mouhieddine, Tarek H.
Izzo, Franco
Dusaj, Neville
Chaligne, Ronan
Juul, Sissel
Wiseman, Daniel H.
Harrington, Eoghan
Taylor, Justin
Ghobrial, Irene M.
Abdel-Wahab, Omar
Landau, Dan A.
BLOOD, 2021, 138
[29] High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms
Jeromin, Sabine
Haferlach, Torsten
Grossmann, Vera
Alpermann, Tamara
Kowarsch, Andreas
Haferlach, Claudia
Kern, Wolfgang
Schnittger, Susanne
HAEMATOLOGICA, 2013, 98 (02) : E15 - E17
[30] Splicing Factor 3B Subunit 1 (SF3B1) Mutations Impact FOXP1 Splicing in Chronic Lymphocytic Leukemia (CLL) Cells but Conserve the Balance Between Newly Described and Classical Splicing Variants of ZAP-70
Roudot, Herve
Martret, Jennifer
Baran-Marszak, Fanny
Collon, Jean Francois
Dahmani, Abdemalek
Lefebvre, Valerie
Troussard, Xavier
Cymbalista, Florence
Varin-Blank, Nadine
Letestu, Remi
BLOOD, 2015, 126 (23)

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