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

收藏

页码：374 / 376

页数：3

相关论文

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 [J].

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 .

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 [J].

KITAYAMA, H ;

KANAKURA, Y ;

FURITSU, T ;

TSUJIMURA, T ;

ORITANI, K ;

IKEDA, H ;

SUGAHARA, H ;

MITSUI, H ;

KANAYAMA, Y ;

KITAMURA, Y ;

MATSUZAWA, Y .

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 [J].

Longley, BJ ;

Tyrrell, L ;

Lu, SZ ;

Ma, YS ;

Langley, K ;

Ding, TG ;

Duffy, T ;

Jacobs, P ;

Tang, LH ;

Modlin, I .

NATURE GENETICS, 1996, 12 (03) :312-314

[5] CLASSIFICATION AND DIAGNOSIS OF MASTOCYTOSIS - CURRENT STATUS [J].

METCALFE, DD .

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 [J].

NAGATA, H ;

WOROBEC, AS ;

OH, CK ;

CHOWDHURY, BA ;

TANNENBAUM, S ;

SUZUKI, Y ;

METCALFE, DD .

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 [J].

OGAWA, M ;

MATSUZAKI, Y ;

NISHIKAWA, S ;

HAYASHI, SI ;

KUNISADA, T ;

SUDO, T ;

KINA, T ;

NAKAUCHI, H ;

NISHIKAWA, SI .

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 [J].

YARDEN, Y ;

KUANG, WJ ;

YANGFENG, T ;

COUSSENS, L ;

MUNEMITSU, S ;

DULL, TJ ;

CHEN, E ;

SCHLESSINGER, J ;

FRANCKE, U ;

ULLRICH, A .

EMBO JOURNAL, 1987, 6 (11) :3341-3351