G2Cdb::Human Disease report

Disease id
D00000004
Name
Inflammatory myofibroblastic tumour
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001905 CLTC
clathrin, heavy chain (Hc)
Y (11485898) Translocation fusion (with another gene) (TF) ?

References

  • Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor.

    Bridge JA, Kanamori M, Ma Z, Pickering D, Hill DA, Lydiatt W, Lui MY, Colleoni GW, Antonescu CR, Ladanyi M and Morris SW

    Department of Pathology, Center for Human Molecular Genetics, 983135 University of Nebraska Medical Center, Omaha, NE 68198, USA. jbridge@unmc.edu

    Inflammatory myofibroblastic tumor (IMT) is a rare, but distinctive mesenchymal neoplasm composed of fascicles of bland myofibroblasts admixed with a prominent inflammatory component. Genetic studies of IMTs have demonstrated chromosomal abnormalities of 2p23 and rearrangement of the anaplastic lymphoma kinase (ALK) gene locus. In a subset of IMTs, the ALK C-terminal kinase domain is fused with a tropomyosin N-terminal coiled-coil domain. In the current study, fusion of ALK with the clathrin heavy chain (CTLC) gene localized to 17q23 was detected in two cases of IMT. One of these cases exhibited a 2;17 translocation in addition to other karyotypic anomalies [46,XX,t(2;17)(p23;q23),add(16)(q24)].

    Funded by: NCI NIH HHS: CA21765, CA69129, P30 CA021765, P30 CA036727, P30 CA36727, R01 CA069129

    The American journal of pathology 2001;159;2;411-5

Literature (1)

Pubmed - human_disease

  • Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor.

    Bridge JA, Kanamori M, Ma Z, Pickering D, Hill DA, Lydiatt W, Lui MY, Colleoni GW, Antonescu CR, Ladanyi M and Morris SW

    Department of Pathology, Center for Human Molecular Genetics, 983135 University of Nebraska Medical Center, Omaha, NE 68198, USA. jbridge@unmc.edu

    Inflammatory myofibroblastic tumor (IMT) is a rare, but distinctive mesenchymal neoplasm composed of fascicles of bland myofibroblasts admixed with a prominent inflammatory component. Genetic studies of IMTs have demonstrated chromosomal abnormalities of 2p23 and rearrangement of the anaplastic lymphoma kinase (ALK) gene locus. In a subset of IMTs, the ALK C-terminal kinase domain is fused with a tropomyosin N-terminal coiled-coil domain. In the current study, fusion of ALK with the clathrin heavy chain (CTLC) gene localized to 17q23 was detected in two cases of IMT. One of these cases exhibited a 2;17 translocation in addition to other karyotypic anomalies [46,XX,t(2;17)(p23;q23),add(16)(q24)].

    Funded by: NCI NIH HHS: CA21765, CA69129, P30 CA021765, P30 CA036727, P30 CA36727, R01 CA069129

    The American journal of pathology 2001;159;2;411-5

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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