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 of the stomach associated with a clathrin-ALK rearrangement.

    McManus DT, Catherwood MA, Carey PD, Cuthbert RJ and Alexander HD

    Department of Tissue Pathology, Belfast City Hospital, Belfast City Hospital Trust, Northern Ireland, United Kingdom.

    ALK-positive diffuse large B-cell lymphoma is a rare, recently characterized lymphoma subtype that shows granular cytoplasmic ALK expression. This report describes a primary gastric ALK-positive B-lineage lymphoma in which a clathrin (CLTC)-ALK fusion was identified by RT-PCR and direct sequencing of the breakpoint. This confirmed the presence of t(2;17)(p23;q23) involving the CLTC gene and is only the 4th report of such a translocation in this lymphoma subtype and the first to describe this tumor within the stomach. As in previous reports, immunophenotyping showed the malignant cell to be a terminally differentiated B-lineage cell characterized by the absence of B-cell antigens and expression of antigens associated with plasma cell differentiation. This case confirms the existence of such a lymphoma subtype arising in extranodal locations and underscores the importance of detailed immunophenotyping and specialized molecular genetic investigations in confirming the diagnosis.

    Human pathology 2004;35;10;1285-8

© 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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