In anaplastic large cell lymphoma (ALCL), the anaplastic lymphoma kinase (
ALK) gene is rearranged with diverse partners due to variant translocations/inversions. Case 1 was a 39-year-old man who developed multiple tumors in the mediastinum, psoas muscle, lung, and lymph nodes. A biopsy specimen of the inguinal node was effaced by large tumor cells expressing CD30, epithelial membrane antigen, and cytoplasmic ALK, which led to a diagnosis of ALK
+ ALCL. Case 2 was a 51-year-old man who was initially diagnosed with undifferentiated carcinoma. He developed multiple skin tumors eight years after his initial presentation, and was finally diagnosed with ALK
+ ALCL. He died of therapy-related acute myeloid leukemia. G-banding and fluorescence
in situ hybridization using an
ALK break-apart probe revealed the rearrangement of
ALK and suggested variant translocation in both cases. We applied an inverse cDNA polymerase chain reaction (PCR) strategy to identify the partner of
ALK. Nucleotide sequencing of the PCR products and a database search revealed that the sequences of
ATIC in case 1 and
TRAF1 in case 2 appeared to follow those of
ALK. We subsequently confirmed
ATIC-
ALK and
TRAF1-
ALK fusions by reverse transcriptase PCR and nucleotide sequencing. We successfully determined the partner gene of
ALK in two cases of ALK
+ ALCL.
ATIC is the second most common partner of variant
ALK rearrangements, while the
TRAF1-
ALK fusion gene was first reported in 2013, and this is the second reported case of ALK
+ ALCL carrying
TRAF1-
ALK.
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