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ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor
Maria Debiec-Rychter1, Peter Marynen, Anne Hagemeijer
1Center for Human Genetics, University of Leuven, Leuven, Belgium. Maria.Debiec-Rychter@med.kuleuven.ac.be
Insights
This study reports a rare inflammatory myofibroblastic tumor (IMT) in the urinary bladder, characterized by a novel ALK-ATIC gene fusion. This finding provides new insights into IMT genetics and urinary bladder cancer.
Area of Science:
- Oncology
- Genetics
- Uropathology
Background:
- Inflammatory myofibroblastic tumors (IMT) are rare neoplasms of uncertain malignant potential.
- IMTs can occur in various anatomic sites, including the urinary bladder.
- The genetic alterations underlying IMTs are diverse, often involving the anaplastic lymphoma kinase (ALK) gene.
Observation:
- A case of IMT in the urinary bladder of a 46-year-old male patient is described.
- Tumor cells exhibited strong cytoplasmic anaplastic lymphoma kinase (ALK) immunopositivity.
- Cytogenetic and FISH analysis revealed a complex rearrangement of chromosome 2.
Findings:
- FISH and RT-PCR confirmed a novel ALK-ATIC chimeric fusion in the tumor cells.
- This represents the first evidence of a variant rearrangement involving the ATIC gene in IMT.
- This is the first cytogenetic description of an IMT originating from the urinary bladder.
Implications:
- The identification of the ALK-ATIC fusion expands the known spectrum of genetic alterations in IMT.
- This discovery may contribute to a better understanding of the pathogenesis of urinary bladder IMTs.
- Further research into ALK-ATIC fusions could inform diagnostic and therapeutic strategies for IMTs.
Abstract:
In this report, we describe an inflammatory myofibroblastic tumor (IMT) of the urinary bladder in a 46-year-old man. Tumor cells presented striking cytoplasmatic ALK immunopositivity. Cytogenetic and FISH analysis, by use of a multicolor chromosome 2 banding probe, revealed a 46,XY,der(2)(2pter-->2p23:2q35-->2q37:2p11-->2q35:2p23-->2p11:2q37-->2qter) karyotype. Subsequent FISH and RT-PCR analysis confirmed the ALK-ATIC chimeric fusion in tumor cells. This is the first evidence of a variant rearrangement involving the ATIC gene in IMT and the first cytogenetic description of an IMT originating from the urinary bladder.
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