G2Cdb::Human Disease report

Disease id
D00000003
Name
ALK-positive diffuse large B-cell lymphoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001905 CLTC
clathrin, heavy chain (Hc)
Y (15492998) Translocation fusion (with another gene) (TF) Y
G00001905 CLTC
clathrin, heavy chain (Hc)
Y (15852431) Translocation fusion (with another gene) (TF) Y

References

  • 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

  • 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

Literature (2)

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

  • 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).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.