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Case Reports
. 2020 May;70(5):295-299.
doi: 10.1111/pin.12919. Epub 2020 Mar 12.

Transformation from EGFR/PTEN co-mutated lung adenocarcinoma to small cell carcinoma in lymph node metastasis

Takuo Hayashi  1 , Kazuya Takamochi  2 , Shinji Kohsaka  3 , Satsuki Kishikawa  1 , Yoshiyuki Suehara  4 , Fumiyuki Takahashi  5 , Kenji Suzuki  2 , Tsuyoshi Saito  1 , Takashi Yao  1
Affiliations
Case Reports

Transformation from EGFR/PTEN co-mutated lung adenocarcinoma to small cell carcinoma in lymph node metastasis

Takuo Hayashi et al. Pathol Int. 2020 May.

Abstract

There is minimal evidence of EGFR-mutated lung adenocarcinoma transforming to small cell lung carcinoma (SCLC) without the administration of EGFR-tyrosine kinase inhibitor (TKI). Here, we present a case of EGFR/PTEN co-mutated lung adenocarcinoma with lymph node metastases, which comprised adenocarcinoma admixed with SCLC. EGFR L858R and PTEN R130Q mutations were shared between the primary tumor and lymph node metastasis. Additionally, EGFR I744M mutation was shared between the adenocarcinoma and SCLC components in the lymph node metastasis, confirming spontaneous transformation from adenocarcinoma to SCLC. Furthermore, TP53 and RB1 mutations were detected only in the SCLC components of the lymph node metastasis. Immunohistochemically, complete absence of Rb expression in SCLC was observed, suggesting the loss of function of RB1. Our case clearly shows that EGFR/PTEN co-mutated lung adenocarcinoma transformed to SCLC in the lymph node without TKI-mediated evolutionary selection pressures.

Keywords: compound EGFR mutation; lung adenocarcinoma; next-generation sequencing; small cell carcinoma.

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References

REFERENCES

    1. Lynch TJ, Bell DW, Sordella R et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004; 350: 2129-39.
    1. Oser MG, Niederst MJ, Sequist LV, Engelman JA. Transformation from non-small-cell lung cancer to small-cell lung cancer: Molecular drivers and cells of origin. Lancet Oncol 2015; 16: e165-72.
    1. Norkowski E, Ghigna MR, Lacroix L et al. Small-cell carcinoma in the setting of pulmonary adenocarcinoma: New insights in the era of molecular pathology. J Thorac Oncol 2013; 8: 1265-71.
    1. Lee JK, Lee J, Kim S et al. Clonal history and genetic predictors of transformation into small-cell carcinomas from lung adenocarcinomas. J Clin Oncol 2017; 35: 3065-74.
    1. Kohsaka S, Nagano M, Ueno T et al. A method of high-throughput functional evaluation of EGFR gene variants of unknown significance in cancer. Sci Transl Med 2017; 9: eaan6566.

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