A new c-kit mutation in a case of aggressive mast cell disease

被引：130

作者：

Pignon, JM

Giraudier, S

Duquesnoy, P

Jouault, H

Imbert, M

Vainchenker, W

Vernant, JP

Tulliez, M

机构：

[1] HOP HENRI MONDOR,SERV HEMATOL CLIN,F-94010 CRETEIL,FRANCE

[2] HOP HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE

[3] INST GUSTAVE ROUSSY,INSERM,U362,F-94805 VILLEJUIF,FRANCE

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1997年 / 96卷 / 02期

关键词：

mastocytosis; c-kit receptor; mutation;

D O I：

10.1046/j.1365-2141.1997.d01-2042.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Systemic mast cell disease (SMCD) is a disorder characterized by a mast cell proliferation in various tissues. Mast cells express the c-kit proto-oncogene. A few cases of c-kit mutations have been described in SMCD. We report an aggressive SMCD in a patient who presented with a bone marrow infiltration by abnormal mast cells. Molecular studies of mast cell DNA and RNA revealed a new c-kit heterozygous mutation (Asp820Gly). This mutation leads to a drastic amino-acid change and is located close to the highly oncogenic Asp816Val. These findings suggest that the Asp820Gly has a potential role in c-kit activation.

引用

页码：374 / 376

页数：3

共 8 条

[1] IDENTIFICATION OF MUTATIONS IN THE CODING SEQUENCE OF THE PROTOONCOGENE C-KIT IN A HUMAN MAST-CELL LEUKEMIA-CELL LINE CAUSING LIGAND-INDEPENDENT ACTIVATION OF C-KIT PRODUCT
FURITSU, T
TSUJIMURA, T
TONO, T
IKEDA, H
KITAYAMA, H
KOSHIMIZU, U
SUGAHARA, H
BUTTERFIELD, JH
ASHMAN, LK
KANAYAMA, Y
MATSUZAWA, Y
KITAMURA, Y
KANAKURA, Y
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (04) : 1736 - 1744
[2] GIEBEL LB, 1992, ONCOGENE, V7, P2207
[3] CONSTITUTIVELY ACTIVATING MUTATIONS OF C-KIT RECEPTOR TYROSINE KINASE CONFER FACTOR-INDEPENDENT GROWTH AND TUMORIGENICITY OF FACTOR-DEPENDENT HEMATOPOIETIC-CELL LINES
KITAYAMA, H
KANAKURA, Y
FURITSU, T
TSUJIMURA, T
ORITANI, K
IKEDA, H
SUGAHARA, H
MITSUI, H
KANAYAMA, Y
KITAMURA, Y
MATSUZAWA, Y
[J]. BLOOD, 1995, 85 (03) : 790 - 798
[4] Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: Establishment of clonality in a human mast cell neoplasm
Longley, BJ
Tyrrell, L
Lu, SZ
Ma, YS
Langley, K
Ding, TG
Duffy, T
Jacobs, P
Tang, LH
Modlin, I
[J]. NATURE GENETICS, 1996, 12 (03) : 312 - 314
[5] CLASSIFICATION AND DIAGNOSIS OF MASTOCYTOSIS - CURRENT STATUS
METCALFE, DD
[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1991, 96 (03) : S2 - S2
[6] IDENTIFICATION OF A POINT MUTATION IN THE CATALYTIC DOMAIN OF THE PROTOONCOGENE C-KIT IN PERIPHERAL-BLOOD MONONUCLEAR-CELLS OF PATIENTS WHO HAVE MASTOCYTOSIS WITH AN ASSOCIATED HEMATOLOGIC DISORDER
NAGATA, H
WOROBEC, AS
OH, CK
CHOWDHURY, BA
TANNENBAUM, S
SUZUKI, Y
METCALFE, DD
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (23) : 10560 - 10564
[7] EXPRESSION AND FUNCTION OF C-KIT IN HEMATOPOIETIC PROGENITOR CELLS
OGAWA, M
MATSUZAKI, Y
NISHIKAWA, S
HAYASHI, SI
KUNISADA, T
SUDO, T
KINA, T
NAKAUCHI, H
NISHIKAWA, SI
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 1991, 174 (01) : 63 - 71
[8] HUMAN PROTOONCOGENE C-KIT - A NEW CELL-SURFACE RECEPTOR TYROSINE KINASE FOR AN UNIDENTIFIED LIGAND
YARDEN, Y
KUANG, WJ
YANGFENG, T
COUSSENS, L
MUNEMITSU, S
DULL, TJ
CHEN, E
SCHLESSINGER, J
FRANCKE, U
ULLRICH, A
[J]. EMBO JOURNAL, 1987, 6 (11) : 3341 - 3351

← 1 →