Features of RUNX1-mutated patients with chronic myelomonocytic leukemia in a national (ABCMML) and international cohort (cBioPortal)

被引：0

作者：

Bayat, Sarah ^{[1
]}

Geissler, Klaus ^{[1
,2
]}

机构：

[1] Sigmund Freud Univ, Med Sch, Sigmund Freud Pl 3, A-1020 Vienna, Austria

[2] Karl Landsteiner Inst Hamatoonkolig Forsch, St Polten, Austria

来源：

WIENER MEDIZINISCHE WOCHENSCHRIFT | 2025年

关键词：

Mutation; Chronic myelomonocytic leukemia; RUNX1; ABCMML; cBioPortal; WORLD-HEALTH-ORGANIZATION; MYELOID NEOPLASMS; GENE-MUTATIONS; CLASSIFICATION; REVISION; FREQUENT; IMPACT;

D O I：

10.1007/s10354-025-01074-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Big data collected in large international cooperations now allow validation of findings from traditional national patient cohorts for proving consistency. In this study, we compared findings in RUNX1-mutated patients of the Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) with the CMML cohort documented in cBioPortal. In the cBioPortal cohort, RUNX1-mutated patients had significantly inferior survival and AML-free survival as compared to nonmutated patients. In the ABCMML cohort, survival and AML-free survival were numerically shorter in RUNX1-mutated patients than in wildtype patients, but this did not reach significance. Regarding phenotype, in both cohorts, RUNX1-mutated patients had a significantly higher proportion of patients with thrombocytopenia and lower metric values for platelets as compared to wildtype patients. Validation of data, as we have done in this study in CMML patients using two independent cohorts, ensures the quality standards that are required for their use in clinical decision making.

引用

页数：6

共 25 条

[1] International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data [J].

Arber, Daniel A. ;

Orazi, Attilio ;

Hasserjian, Robert P. ;

Borowitz, Michael J. ;

Calvo, Katherine R. ;

Kvasnicka, Hans-Michael ;

Wang, Sa A. ;

Bagg, Adam ;

Barbui, Tiziano ;

Branford, Susan ;

Bueso-Ramos, Carlos E. ;

Cortes, Jorge E. ;

Dal Cin, Paola ;

DiNardo, Courtney D. ;

Dombret, Herve ;

Duncavage, Eric J. ;

Ebert, Benjamin L. ;

Estey, Elihu H. ;

Facchetti, Fabio ;

Foucar, Kathryn ;

Gangat, Naseema ;

Gianelli, Umberto ;

Godley, Lucy A. ;

Gokbuget, Nicola ;

Gotlib, Jason ;

Hellstrom-Lindberg, Eva ;

Hobbs, Gabriela S. ;

Hoffman, Ronald ;

Jabbour, Elias J. ;

Kiladjian, Jean-Jacques ;

Larson, Richard A. ;

Le Beau, Michelle M. ;

Loh, Mignon L. -C. ;

Lowenberg, Bob ;

Macintyre, Elizabeth ;

Malcovati, Luca ;

Mullighan, Charles G. ;

Niemeyer, Charlotte ;

Odenike, Olatoyosi M. ;

Ogawa, Seishi ;

Orfao, Alberto ;

Papaemmanuil, Elli ;

Passamonti, Francesco ;

Porkka, Kimmo ;

Pui, Ching-Hon ;

Radich, Jerald P. ;

Reiter, Andreas ;

Rozman, Maria ;

Rudelius, Martina ;

Savona, Michael R. .

BLOOD, 2022, 140 (11) :1200-1228

[2] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [J].

Arber, Daniel A. ;

Orazi, Attilio ;

Hasserjian, Robert ;

Thiele, Jurgen ;

Borowitz, Michael J. ;

Le Beau, Michelle M. ;

Bloomfield, Clara D. ;

Cazzola, Mario ;

Vardiman, James W. .

BLOOD, 2016, 127 (20) :2391-2405

[3] The use of Big Data Analytics in healthcare [J].

Batko, Kornelia ;

Slezak, Andrzej .

JOURNAL OF BIG DATA, 2022, 9 (01)

[4] PROPOSALS FOR THE CLASSIFICATION OF THE MYELODYSPLASTIC SYNDROMES [J].

BENNETT, JM ;

CATOVSKY, D ;

DANIEL, MT ;

FLANDRIN, G ;

GALTON, DAG ;

GRALNICK, HR ;

SULTAN, C .

BRITISH JOURNAL OF HAEMATOLOGY, 1982, 51 (02) :189-199

[5] The use of targeted sequencing and flow cytometry to identify patients with a clinically significant monocytosis [J].

Cargo, Catherine ;

Cullen, Matthew ;

Taylor, Jan ;

Short, Mike ;

Glover, Paul ;

Van Hoppe, Suzan ;

Smith, Alex ;

Evans, Paul ;

Crouch, Simon .

BLOOD, 2019, 133 (12) :1325-1334

[6] The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data [J].

Cerami, Ethan ;

Gao, Jianjiong ;

Dogrusoz, Ugur ;

Gross, Benjamin E. ;

Sumer, Selcuk Onur ;

Aksoy, Buelent Arman ;

Jacobsen, Anders ;

Byrne, Caitlin J. ;

Heuer, Michael L. ;

Larsson, Erik ;

Antipin, Yevgeniy ;

Reva, Boris ;

Goldberg, Arthur P. ;

Sander, Chris ;

Schultz, Nikolaus .

CANCER DISCOVERY, 2012, 2 (05) :401-404

[7] Gene mutations differently impact the prognosis of the myelodysplastic and myeloproliferative classes of chronic myelomonocytic leukemia [J].

Cervera, Nathalie ;

Itzykson, Raphael ;

Coppin, Emilie ;

Prebet, Thomas ;

Murati, Anne ;

Legall, Stevan ;

Vey, Norbert ;

Solary, Eric ;

Birnbaum, Daniel ;

Gelsi-Boyer, Veronique .

AMERICAN JOURNAL OF HEMATOLOGY, 2014, 89 (06) :604-609

[8] Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia [J].

Elena, Chiara ;

Galli, Anna ;

Such, Esperanza ;

Meggendorfer, Manja ;

Germing, Ulrich ;

Rizzo, Ettore ;

Cervera, Jose ;

Molteni, Elisabetta ;

Fasan, Annette ;

Schuler, Esther ;

Ambaglio, Ilaria ;

Lopez-Pavia, Maria ;

Zibellini, Silvia ;

Kuendgen, Andrea ;

Travaglino, Erica ;

Sancho-Tello, Reyes ;

Catricala, Silvia ;

Vicente, Ana I. ;

Haferlach, Torsten ;

Haferlach, Claudia ;

Sanz, Guillermo F. ;

Malcovati, Luca ;

Cazzola, Mario .

BLOOD, 2016, 128 (10) :1408-1417

[9] The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) A representative and useful real-life data source for further biomedical research [J].

Geissler, Klaus ;

Jaeger, Eva ;

Barna, Agnes ;

Gurbisz, Michael ;

Marschon, Renate ;

Graf, Temeida ;

Graf, Elmir ;

Borjan, Bojana ;

Jilch, Ruth ;

Geissler, Christoph ;

Hoermann, Gregor ;

Esterbauer, Harald ;

Schwarzinger, Ilse ;

Noesslinger, Thomas ;

Pfeilstoecker, Michael ;

Tuechler, Heinz ;

Reisner, Regina ;

Sliwa, Thamer ;

Keil, Felix ;

Bettelheim, Peter ;

Machherndl-Spandl, Sigrid ;

Doleschal, Bernhard ;

Zach, Otto ;

Weltermann, Ansgar ;

Heibl, Sonja ;

Thaler, Josef ;

Zebisch, Armin ;

Sill, Heinz ;

Stauder, Reinhard ;

Webersinke, Gerald ;

Petzer, Andreas ;

Kusec, Rajko ;

Ulsperger, Ernst ;

Schneeweiss, Bruno ;

Berger, Joerg ;

OEhler, Leopold ;

Germing, Ulrich ;

Sperr, Wolfgang R. ;

Knoebl, Paul ;

Jaeger, Ulrich ;

Valent, Peter .

WIENER KLINISCHE WOCHENSCHRIFT, 2019, 131 (17-18) :410-418

[10] Pathways involved in Drosophila and human cancer development: the Notch, Hedgehog, Wingless, Runt, and Trithorax pathway [J].

Geissler, Klaus ;

Zach, Otto .

ANNALS OF HEMATOLOGY, 2012, 91 (05) :645-669

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