Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

M C J Jongmans; R P Kuiper; C L Carmichael; E J Wilkins; N Dors; A Carmagnac; A Y N Schouten-van Meeteren; X Li; M Stankovic; E Kamping; H Bengtsson; E F P M Schoenmakers; A Geurts van Kessel; P M Hoogerbrugge; C N Hahn; P P Brons; H S Scott; N Hoogerbrugge

doi:10.1038/leu.2009.210

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

M C J Jongmans
, R P Kuiper
, C L Carmichael
, E J Wilkins
, N Dors
, A Carmagnac
, A Y N Schouten-van Meeteren
, X Li
, M Stankovic
, E Kamping
, H Bengtsson
, E F P M Schoenmakers
, A Geurts van Kessel
, P M Hoogerbrugge
, C N Hahn
, P P Brons
, H S Scott
, N Hoogerbrugge

Research output: Contribution to journal › Article › peer-review

85 Citations (Scopus)

Original language	English
Pages (from-to)	242-6
Number of pages	5
Journal	Leukemia
Volume	24
Issue number	1
DOIs	https://doi.org/10.1038/leu.2009.210
Publication status	Published - Jan 2010
Externally published	Yes

Keywords

Blood Platelet Disorders/diagnosis
Child
Child, Preschool
Core Binding Factor Alpha 2 Subunit/genetics
Female
Gene Deletion
Humans
Leukemia, Myeloid, Acute/diagnosis
Male
Mutation

Access to Document

10.1038/leu.2009.210

Cite this

Jongmans, M. C. J., Kuiper, R. P., Carmichael, C. L., Wilkins, E. J., Dors, N., Carmagnac, A., Schouten-van Meeteren, A. Y. N., Li, X., Stankovic, M., Kamping, E., Bengtsson, H., Schoenmakers, E. F. P. M., van Kessel, A. G., Hoogerbrugge, P. M., Hahn, C. N., Brons, P. P., Scott, H. S., & Hoogerbrugge, N. (2010). Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia, 24(1), 242-6. https://doi.org/10.1038/leu.2009.210

@article{76d94e3a2d61427b842832860a27ce60,

title = "Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome",

keywords = "Blood Platelet Disorders/diagnosis, Child, Child, Preschool, Core Binding Factor Alpha 2 Subunit/genetics, Female, Gene Deletion, Humans, Leukemia, Myeloid, Acute/diagnosis, Male, Mutation",

author = "Jongmans, \{M C J\} and Kuiper, \{R P\} and Carmichael, \{C L\} and Wilkins, \{E J\} and N Dors and A Carmagnac and \{Schouten-van Meeteren\}, \{A Y N\} and X Li and M Stankovic and E Kamping and H Bengtsson and Schoenmakers, \{E F P M\} and \{van Kessel\}, \{A Geurts\} and Hoogerbrugge, \{P M\} and Hahn, \{C N\} and Brons, \{P P\} and Scott, \{H S\} and N Hoogerbrugge",

note = "Funding Information: We are grateful to all patients for their participation in this study. The Affymetrix array analyses in pedigree 2 were performed by the Australian Genome Research Facility, which was established through the Commonwealth-funded Major National Research Facilities program. MCJ Jongmans is an MD-medical research trainee, sponsored by The Netherlands Organisation for Health Research and Development. This work was also supported by grants from the National Health and Medical Research Council of Australia to HSS (program Grants 257501 and 219176, fellowships 171601 and 461204), and a Dora Lush Postgraduate Award (CLC), a Leukaemia Foundation of Australia (grant-in-aid to HSS, postdoctoral fellowship to CLC), the Cancer Council of South Australia (HSS), and MedVet Pty Ltd (HSS). Funding Information: This work was supported by grants from Fundac¸{\~a}o de Amparo {\`a} Pesquisa do Estado de S{\~a}o Paulo (FAPESP; 08/10034-1), Conselho Nacional de Desenvolvimento Cient{\'i}fico e Tecnol{\'o}gico (CNPq; 401122/2005-0) and Fundac¸{\~a}o para a Ci{\^e}ncia e a Tecnologia (POCI-PPCDT/SAU-OBS/58913 and PTDC/SAU-OBD/69974). PYJ, MAG and MBV have FAPESP, CAPES and CNPq scholarships, respectively. AS has FCT-SFRH PhD fellowships.",

year = "2010",

month = jan,

doi = "10.1038/leu.2009.210",

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volume = "24",

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journal = "Leukemia",

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Jongmans, MCJ , Kuiper, RP, Carmichael, CL, Wilkins, EJ, Dors, N, Carmagnac, A, Schouten-van Meeteren, AYN, Li, X, Stankovic, M, Kamping, E, Bengtsson, H, Schoenmakers, EFPM, van Kessel, AG, Hoogerbrugge, PM, Hahn, CN, Brons, PP, Scott, HS & Hoogerbrugge, N 2010, 'Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome', Leukemia, vol. 24, no. 1, pp. 242-6. https://doi.org/10.1038/leu.2009.210

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T1 - Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia

T2 - clues for improved identification of the FPD/AML syndrome

AU - Jongmans, M C J

AU - Kuiper, R P

AU - Carmichael, C L

AU - Wilkins, E J

AU - Dors, N

AU - Carmagnac, A

AU - Schouten-van Meeteren, A Y N

AU - Li, X

AU - Stankovic, M

AU - Kamping, E

AU - Bengtsson, H

AU - Schoenmakers, E F P M

AU - van Kessel, A Geurts

AU - Hoogerbrugge, P M

AU - Hahn, C N

AU - Brons, P P

AU - Scott, H S

AU - Hoogerbrugge, N

N1 - Funding Information: We are grateful to all patients for their participation in this study. The Affymetrix array analyses in pedigree 2 were performed by the Australian Genome Research Facility, which was established through the Commonwealth-funded Major National Research Facilities program. MCJ Jongmans is an MD-medical research trainee, sponsored by The Netherlands Organisation for Health Research and Development. This work was also supported by grants from the National Health and Medical Research Council of Australia to HSS (program Grants 257501 and 219176, fellowships 171601 and 461204), and a Dora Lush Postgraduate Award (CLC), a Leukaemia Foundation of Australia (grant-in-aid to HSS, postdoctoral fellowship to CLC), the Cancer Council of South Australia (HSS), and MedVet Pty Ltd (HSS). Funding Information: This work was supported by grants from Fundac¸ão de Amparo à Pesquisa do Estado de São Paulo (FAPESP; 08/10034-1), Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq; 401122/2005-0) and Fundac¸ão para a Ciência e a Tecnologia (POCI-PPCDT/SAU-OBS/58913 and PTDC/SAU-OBD/69974). PYJ, MAG and MBV have FAPESP, CAPES and CNPq scholarships, respectively. AS has FCT-SFRH PhD fellowships.

PY - 2010/1

Y1 - 2010/1

KW - Blood Platelet Disorders/diagnosis

KW - Child

KW - Child, Preschool

KW - Core Binding Factor Alpha 2 Subunit/genetics

KW - Female

KW - Gene Deletion

KW - Humans

KW - Leukemia, Myeloid, Acute/diagnosis

KW - Male

KW - Mutation

UR - https://www.scopus.com/pages/publications/74249104168

U2 - 10.1038/leu.2009.210

DO - 10.1038/leu.2009.210

M3 - Article

C2 - 19946261

SN - 0887-6924

VL - 24

SP - 242

EP - 246

JO - Leukemia

JF - Leukemia

IS - 1

ER -