G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00001905 CLTC Homo sapiens clathrin, heavy chain (Hc)

Diseases (1)

Disease Description Nervous effect
D00000003 ALK-positive diffuse large B-cell lymphoma N

Literature (1)

Pubmed - human_disease

  • ALK-positive diffuse large B-cell lymphoma.

    Bubała H, Małdyk J, Włodarska I, Sońta-Jakimczyk D and Szczepański T

    Department of Pediatric Hematology and Oncology, Silesian Medical Academy, Zabrze, Poland.

    Anaplastic lymphoma kinase (ALK) positive diffuse large B-cell lymphoma (DLBCL) is a rare subtype of non-Hodgkins lymphoma. Five such cases have been described in children. We present a 9-year-old boy, in whom diagnosis of DLBCL has been established in addition to congenital multiple enchondromatosis. Immunohistopathological evaluation of tumor biopsy established the final diagnosis of ALK + DLBCL. The clathrin gene (CLTC)-ALK fusion underlying aberrant expression of ALK in the present case was demonstrated by interphase fluorescence in situ hybridization (FISH) using break-apart rearrangement probes for ALK and CLTC. The disease in this patient was highly resistant to applied chemotherapy regimens and to radiotherapy. Analysis of the disease course in our patient and review of other cases reported previously show that ALK + DLBCL can be an aggressive malignancy that can be cured with conventional chemotherapy protocols only at stage of localized disease.

    Pediatric blood & cancer 2006;46;5;649-53

© 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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