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Concordance of ALK fusion gene-rearrangement between immunohistochemistry and next-generation sequencing

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Abstract

Background

Although various companion diagnostic tests of ALK fusion gene-rearrangement are approved, few reports have assessed the concordance of ALK fusion gene-rearrangement in two companion diagnostic tests: next-generation sequencing (NGS) testing and immunohistochemistry (IHC).

Methods

The samples evaluated for gene alterations using NGS testing between May 2019 and November 2021 were included in this study. The inclusion criteria were as follows: samples were diagnosed with non-small cell lung cancer; the results of the NGS analysis were informative; and samples had residual specimens for IHC. We performed IHC on the residual specimens and retrospectively collected sample characteristics from medical records.

Results

A total of 185 samples were analyzed using NGS. Twenty-six samples were excluded because of failure to analyze gene alterations using NGS, no residual samples, and inadequate IHC. We analyzed 159 samples. The major histological type was adenocarcinoma (115 samples). The number of surgical and transbronchial lung biopsy specimens was 59 and 56, respectively. ALK fusion gene-rearrangement was detected in four samples using NGS, and five were detected using IHC. The sensitivity and specificity of IHC referred to by NGS were 75.0% and 98.7%, respectively. The concordance rate between IHC and NGS was 98.1%. ALK rearrangement was detected in two patients using IHC but not using NGS. In addition, ALK rearrangement was detected in one patient using NGS but not using IHC.

Conclusion

Our results suggest that IHC and NGS might be complementary tests. In patients suspected of harboring ALK fusion gene-rearrangement, it should be analyzed using another diagnostic method.

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Authors and Affiliations

  1. Division of Thoracic Oncology, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Suntou-gun, Shizuoka, 411-8777, Japan

    Kazushige Wakuda, Meiko Morita, Motoki Sekikawa, Noboru Morikawa, Keita Miura, Kosei Doshita, Yuko Iida, Hiroaki Kodama, Nobuaki Mamesaya, Haruki Kobayashi, Ryo Ko, Akira Ono, Hirotsugu Kenmotsu, Tateaki Naito, Haruyasu Murakami & Toshiaki Takahashi

  2. Division of Pathology, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo, Nagaizumi-cho, Suntou-gun, Shizuoka, 411-8777, Japan

    Koji Muramatsu & Takuya Kawata

  3. Department of Biostatistics, Clinical Research Support Center, Shizuoka Cancer Center Hospital, 1007 Shimonagakubo Nagaizumi-cho Suntou-gun, Shizuoka, 411-8777, Japan

    Keita Mori

  4. Division of Respiratory Medicine, Nihon University School of Medicine, 30-1 Ohyaguchi-Kamicho, Itabashiku, Tokyo, 173-8610, Japan

    Tetsuo Shimizu & Yasuhiro Gon

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  1. Kazushige Wakuda
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Correspondence to Kazushige Wakuda.

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Wakuda, K., Morita, M., Sekikawa, M. et al. Concordance of ALK fusion gene-rearrangement between immunohistochemistry and next-generation sequencing. Int J Clin Oncol 29, 96–102 (2024). https://doi.org/10.1007/s10147-023-02451-6

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