Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

Mignon L. Loh; Debbie S. Sakai; Christian Flotho; Michelle Kang; Manfred Fliegauf; Sophie Archambeault; Charles G. Mullighan; Leslie Chen; Eva Bergstraesser; Carlos E. Bueso-Ramos; Peter D. Emanuel; Henrik Hasle; Jean-Pierre Issa; Marry M. Van Den Heuvel-Eibrink; Franco Locatelli; Jan Starý; Monica Trebo; Marcin Wlodarski; Marco Zecca; Kevin M. Shannon; Charlotte M. Niemeyer

doi:10.1182/blood-2009-01-198416

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

Mignon L. Loh, Debbie S. Sakai, Christian Flotho, Michelle Kang, Manfred Fliegauf, Sophie Archambeault, Charles G. Mullighan, Leslie Chen, Eva Bergstraesser, Carlos E. Bueso-Ramos, Peter D. Emanuel, Henrik Hasle, Jean-Pierre Issa, Marry M. Van Den Heuvel-Eibrink, Franco Locatelli, Jan Starý, Monica Trebo, Marcin Wlodarski, Marco Zecca, Kevin M. ShannonCharlotte M. Niemeyer

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML. (Blood. 2009; 114: 1859-1863)

Lingua originale	English
pagine (da-a)	1859-1863
Numero di pagine	12
Rivista	Blood
Volume	114
DOI	https://doi.org/10.1182/blood-2009-01-198416
Stato di pubblicazione	Pubblicato - 2009

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Loh, M. L., Sakai, D. S., Flotho, C., Kang, M., Fliegauf, M., Archambeault, S., Mullighan, C. G., Chen, L., Bergstraesser, E., Bueso-Ramos, C. E., Emanuel, P. D., Hasle, H., Issa, J.-P., Van Den Heuvel-Eibrink, M. M., Locatelli, F., Starý, J., Trebo, M., Wlodarski, M., Zecca, M., ... Niemeyer, C. M. (2009). Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood, 114, 1859-1863. https://doi.org/10.1182/blood-2009-01-198416

@article{c0086fbbf497454abddfba2e5b4f2f4e,

title = "Mutations in CBL occur frequently in juvenile myelomonocytic leukemia",

abstract = "Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML. (Blood. 2009; 114: 1859-1863)",

keywords = "N/A, N/A",

author = "Loh, {Mignon L.} and Sakai, {Debbie S.} and Christian Flotho and Michelle Kang and Manfred Fliegauf and Sophie Archambeault and Mullighan, {Charles G.} and Leslie Chen and Eva Bergstraesser and Bueso-Ramos, {Carlos E.} and Emanuel, {Peter D.} and Henrik Hasle and Jean-Pierre Issa and {Van Den Heuvel-Eibrink}, {Marry M.} and Franco Locatelli and Jan Star{\'y} and Monica Trebo and Marcin Wlodarski and Marco Zecca and Shannon, {Kevin M.} and Niemeyer, {Charlotte M.}",

year = "2009",

doi = "10.1182/blood-2009-01-198416",

language = "English",

volume = "114",

pages = "1859--1863",

journal = "Blood",

issn = "1528-0020",

publisher = "[Philadelphia, Pa.] : W.B. Saunders Washington, DC : American Society of Hematology",

}

Loh, ML, Sakai, DS, Flotho, C, Kang, M, Fliegauf, M, Archambeault, S, Mullighan, CG, Chen, L, Bergstraesser, E, Bueso-Ramos, CE, Emanuel, PD, Hasle, H, Issa, J-P, Van Den Heuvel-Eibrink, MM, Locatelli, F, Starý, J, Trebo, M, Wlodarski, M, Zecca, M, Shannon, KM & Niemeyer, CM 2009, 'Mutations in CBL occur frequently in juvenile myelomonocytic leukemia', Blood, vol. 114, pagg. 1859-1863. https://doi.org/10.1182/blood-2009-01-198416

TY - JOUR

T1 - Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

AU - Loh, Mignon L.

AU - Sakai, Debbie S.

AU - Flotho, Christian

AU - Kang, Michelle

AU - Fliegauf, Manfred

AU - Archambeault, Sophie

AU - Mullighan, Charles G.

AU - Chen, Leslie

AU - Bergstraesser, Eva

AU - Bueso-Ramos, Carlos E.

AU - Emanuel, Peter D.

AU - Hasle, Henrik

AU - Issa, Jean-Pierre

AU - Van Den Heuvel-Eibrink, Marry M.

AU - Locatelli, Franco

AU - Starý, Jan

AU - Trebo, Monica

AU - Wlodarski, Marcin

AU - Zecca, Marco

AU - Shannon, Kevin M.

AU - Niemeyer, Charlotte M.

PY - 2009

Y1 - 2009

N2 - Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML. (Blood. 2009; 114: 1859-1863)

AB - Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML. (Blood. 2009; 114: 1859-1863)

KW - N/A

UR - http://hdl.handle.net/10807/257661

U2 - 10.1182/blood-2009-01-198416

DO - 10.1182/blood-2009-01-198416

M3 - Article

SN - 1528-0020

VL - 114

SP - 1859

EP - 1863

JO - Blood

JF - Blood

ER -

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

Abstract

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