Paediatric Haematology and Oncology and NHL-BFM Study Centre, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Paediatric Haematology and Oncology and CoALL Study Centre, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Br J Haematol. 2024 May;204(5):1894-1898. doi: 10.1111/bjh.19308. Epub 2024 Jan 26.
Frequency, distribution and prognostic meaning of ALK-partner genes other than NPM1 in ALK-positive anaplastic large-cell lymphoma (ALCL) are unknown. Forty-nine of 316 ALCL diagnosed in the NHL-BFM study group showed no nuclear ALK expression suggestive of a variant ALK-partner; 41 were analysed by genomic capture high-throughput sequencing or specific RT-PCRs. NPM1::ALK was detected in 13 cases. Among the 28 patients with a non-NPM1::ALK-fusion partner, ATIC (n = 8; 29%) and TPM3 (n = 9; 32%) were the most common. Five of eight patients with ATIC::ALK-positive ALCL relapsed, none of nine with TPM3::ALK. Variant ALK-partners are rare and potentially associated with different prognoses.
ALK 阳性间变大细胞淋巴瘤（ALCL）中除了 NPM1 以外的 ALK 伙伴基因的频率、分布和预后意义尚不清楚。在 NHL-BFM 研究组诊断的 316 例 ALCL 中，有 49 例没有显示出核 ALK 表达，提示存在变异的 ALK 伙伴；其中 41 例通过基因组捕获高通量测序或特定的 RT-PCR 进行了分析。检测到 13 例 NPM1::ALK。在 28 例非 NPM1::ALK-融合伙伴的患者中，ATIC（n=8；29%）和 TPM3（n=9；32%）是最常见的。8 例 ATIC::ALK 阳性 ALCL 患者中有 5 例复发，9 例 TPM3::ALK 患者均未复发。变异的 ALK 伙伴罕见，可能与不同的预后相关。
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