Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms

被引：24

作者：

DiFilippo, Emma C. ^{[1
]}

Coltro, Giacomo ^{[2
]}

Carr, Ryan M. ^{[2
]}

Mangaonkar, Abhishek A. ^{[2
]}

Binder, Moritz ^{[2
]}

Khan, Shakila P. ^{[3
]}

Rodriguez, Vilmarie ^{[3
]}

Gangat, Naseema ^{[2
]}

Wolanskyj, Alexandra ^{[2
]}

Pruthi, Rajiv K. ^{[2
]}

Chen, Dong ^{[4
]}

He, Rong ^{[4
]}

Viswanatha, David S. ^{[4
]}

Lasho, Terra ^{[2
]}

Finke, Christy ^{[2
]}

Tefferi, Ayalew ^{[2
]}

Pardanani, Animesh ^{[2
]}

Patnaik, Mrinal M. ^{[3
]}

机构：

[1] Mayo Clin, Alix Sch Med, Rochester, MN USA

[2] Mayo Clin, Dept Med, Div Hematol, Rochester, MN USA

[3] Mayo Clin, Div Pediat Hematol, Rochester, MN 55905 USA

[4] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

来源：

LEUKEMIA | 2020年 / 34卷 / 09期

关键词：

ACUTE MYELOID-LEUKEMIA; RISK;

D O I：

10.1038/s41375-020-0752-x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：2519 / 2524

页数：6

共 50 条

[1] Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms
Emma C. DiFilippo
Giacomo Coltro
Ryan M. Carr
Abhishek A. Mangaonkar
Moritz Binder
Shakila P. Khan
Vilmarie Rodriguez
Naseema Gangat
Alexandra Wolanskyj
Rajiv K. Pruthi
Dong Chen
Rong He
David S. Viswanatha
Terra Lasho
Christy Finke
Ayalew Tefferi
Animesh Pardanani
Mrinal M. Patnaik
Leukemia, 2020, 34 : 2519 - 2524
[2] Spectrum of Abnormalities and Clonal Transformation in Germline RUNX1 Familial Platelet Disorder and a Comparative Analysis with Somatic RUNX1 Mutations in Myeloid Neoplasms
Difilippo, Emma
Coltro, Giacomo
Carr, Ryan M.
Mangaonkar, Abhishek A.
Binder, Moritz
Khan, Shakila P.
Rodriguez, Vilmarie
Gangat, Naseema
Wolanskyj, Alexandra
Pruthi, Rajiv K.
Chen, Dong
He, Rong
Viswanatha, David S.
Lasho, Terra
Finke, Christy
Tefferi, Ayalew
Pardanani, Animesh
Litzow, Mark
Patnaik, Mrinal M.
BLOOD, 2019, 134
[3] Beyond pathogenic RUNX1 germline variants: The spectrum of somatic mutations in RUNX1 familial platelet disorder with predisposition to hematologic malignancies
Forster, Alisa
Decker, Melanie
Schlegelberger, Brigitte
Ripperger, Tim
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 563 - 563
[4] A new form of familial platelet disorder caused by germline mutations in RUNX1 in a pedigree
关军
China Medical Abstracts (Internal Medicine), 2023, 40 (02) : 123 - 124
[5] Platelet transcriptome analysis in patients with germline RUNX1 mutations
Palma-Barqueros, Veronica
Bastida, Jose Maria
Andreo, Maria Jose Lopez
Zamora-Canovas, Ana
Zaninetti, Carlo
Ruiz-Pividal, Juan Francisco
Bohdan, Natalia
Padilla, Jose
Teruel-Montoya, Raul
Marin-Quilez, Ana
Revilla, Nuria
Sanchez-Fuentes, Ana
Rodriguez-Alen, Agustin
Benito, Rocio
Vicente, Vicente
Iturbe, Teodoro
Greinacher, Andreas
Lozano, Maria Luisa
Rivera, Jose
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2023, 21 (05) : 1352 - 1365
[6] Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies
Foerster, Alisa
Decker, Melanie
Schlegelberger, Brigitte
Ripperger, Tim
CANCERS, 2022, 14 (14)
[7] Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation
Krutein, Michelle C.
Hart, Matthew R.
Anderson, Donovan J.
Jeffery, Jasmin
Kotini, Andriana G.
Dai, Jin
Chien, Sylvia
DelPriore, Michaela
Borst, Sara
Maguire, Jean Ann
French, Deborah L.
Gadue, Paul
Papapetrou, Eirini P.
Keel, Sioban B.
Becker, Pamela S.
Horwitz, Marshall S.
BLOOD ADVANCES, 2021, 5 (03) : 687 - 699
[8] Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy
Yu, Kai
Deuitch, Natalie
Merguerian, Matthew
Cunningham, Lea
Davis, Joie
Bresciani, Erica
Diemer, Jamie
Andrews, Elizabeth
Young, Alice
Donovan, Frank
Sood, Raman
Craft, Kathleen
Chong, Shawn
Chandrasekharappa, Settara
Mullikin, Jim
Liu, Paul P.
BLOOD ADVANCES, 2024, 8 (02) : 497 - 511
[9] The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression
Granados, David Cabrerizo
Barbosa, Indira
Baliakas, Panagiotis
Hellstrom-Lindberg, Eva
Lundin, Vanessa
GENES CHROMOSOMES & CANCER, 2023, 62 (11): : 672 - 677
[10] Germline RUNX1 translocation in familial platelet disorder with propensity to myeloid malignancies
Sakurai, Masatoshi
Nannya, Yasuhito
Yamazaki, Rie
Yamaguchi, Kentaro
Koda, Yuya
Abe, Ryohei
Yokoyama, Kenji
Ogawa, Seishi
Mori, Takehiko
ANNALS OF HEMATOLOGY, 2022, 101 (01) : 237 - 239

← 1 2 3 4 5 →