Identification of a novel fusion, SQSTM1-ALK, in ALK-positive large B-cell lymphoma

Haematologica. 2011 Mar;96(3):464-7. doi: 10.3324/haematol.2010.033514. Epub 2010 Dec 6.

Abstract

ALK-positive large B-cell lymphoma is a rare subtype of lymphoma, and most cases follow an aggressive clinical course with a poor prognosis. We examined an ALK-positive large B-cell lymphoma case showing an anti-ALK immunohistochemistry pattern distinct from those of 2 known ALK fusions, CLTC-ALK and NPM-ALK, for the presence of a novel ALK fusion; this led to the identification of SQSTM1-ALK. SQSTM1 is an ubiquitin binding protein that is associated with oxidative stress, cell signaling, and autophagy. We showed transforming activities of SQSTM1-ALK with a focus formation assay and an in vivo tumorigenicity assay using 3T3 fibroblasts infected with a recombinant retrovirus encoding SQSTM1-ALK. ALK-inhibitor therapies are promising for treating ALK-positive large B-cell lymphoma, especially for refractory cases. SQSTM1-ALK may be a rare fusion, but our data provide novel biological insights and serve as a key for the accurate diagnosis of this rare lymphoma.

Publication types

  • Case Reports

MeSH terms

  • 3T3 Cells
  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / metabolism
  • Amino Acid Sequence
  • Anaplastic Lymphoma Kinase
  • Animals
  • Antineoplastic Combined Chemotherapy Protocols / administration & dosage
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Cell Transformation, Viral
  • Cyclophosphamide / administration & dosage
  • Cyclophosphamide / therapeutic use
  • Doxorubicin / administration & dosage
  • Doxorubicin / therapeutic use
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Injections, Subcutaneous
  • Lymphoma, Large B-Cell, Diffuse / diagnosis
  • Lymphoma, Large B-Cell, Diffuse / drug therapy
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Male
  • Mice
  • Mice, Nude
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Polymerase Chain Reaction
  • Prednisolone / administration & dosage
  • Prednisolone / therapeutic use
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor Protein-Tyrosine Kinases / metabolism
  • Retroviridae
  • Sequestosome-1 Protein
  • Signal Transduction / genetics
  • Vincristine / administration & dosage
  • Vincristine / therapeutic use

Substances

  • Adaptor Proteins, Signal Transducing
  • Oncogene Proteins, Fusion
  • SQSTM1 protein, human
  • Sequestosome-1 Protein
  • Vincristine
  • Doxorubicin
  • Cyclophosphamide
  • Prednisolone
  • ALK protein, human
  • Alk protein, mouse
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases

Supplementary concepts

  • VAP-cyclo protocol

Associated data

  • GENBANK/AB583922