ETV6-NTRK3 translocation-associated low-grade mucinous bronchial adenocarcinoma: A novel bronchial salivary gland-type non-small cell lung cancer subtype

Thüsen, Jan H. von der; Dumoulin, Daphne W; Maat, A.P.W.M.; Wolf, J.; Sadeghi, Amir H.; Aerts, Joachim; Cornelissen, Robin

doi:10.1016/j.lungcan.2021.04.015

Cited by 6 publications

(1 citation statement)

References 15 publications

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“…However, the underlying mechanism of this disease remains unclear. von der Thüsen et al ( 29 ) found that the ETV6-NTRK3 fusion gene encodes an activated membrane receptor kinase protein, which can promote cell proliferation and survival through the activation of the Ras-MAP kinase and PI3K-Akt pathways. The ETV6-NTRK3 fusion gene is also associated with secretory carcinoma ( 30 , 31 ).…”

Section: Discussionmentioning

confidence: 99%

A unique case of inflammatory myofibroblastic tumor of the liver manifesting with biloma: A case report

Huang

Zhao

et al. 2022

Oncol Lett

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Anaplastic lymphoma kinase (ALK)-negative hepatic inflammatory myofibroblastic tumors (IMTs) harboring the ETS variant transcription factor 6-neurotrophic receptor tyrosine kinase 3 ( ETV6-NTRK3 ) fusion gene and manifesting with biloma are extremely rare, and their biological behavior is unclear. The present study reports the case of a 45-year-old female with ALK-negative IMT of the liver harboring the ETV6-NTRK3 fusion gene and manifesting with biloma. Computed tomography of the abdomen confirmed the lesions to be a low-density mass, measuring 11.2×8.5×10.5 cm, located in the left lobe of the liver, and a lower-density mass, measuring 8.5×6.1×5.9 cm, located in the interior of the tumor. As the suspicion of a malignancy remained high, surgical resection of the left hepatic lobe, including the tumor, was undertaken. Intraoperatively, a tumor (12×10×9 cm), with an unclear boundary, incomplete capsule and fish-like texture, was found in the left lateral lobe of the liver, and a biloma, measuring 8×6 cm, was identified inside the tumor. Pathological examination revealed spindle cell proliferation with infiltration of chronic inflammatory cells and mucinous degeneration. Immunohistochemical studies showed negativity for ALK, CD117, CD34, discovered on GIST-1, desmin, smooth muscle actin, S-100, CD21, pan-cytokeratin, epithelial membrane antigen, CD23 and CD35, but positivity for vimentin staining, and 5% Ki-67-positive cells. Fluorescence in situ hybridization studies assessing characteristic genetic rearrangements using ALK, RET, ROS1, MDM2, MGEA5 and ETV6 break-apart assays, revealed the presence of the ETV6-NTRK3 fusion oncogene and negativity for ALK, RET, ROS1, MDM2 and MGEA5 . The patient was discharged 7 days post-operatively, without any adjuvant treatment. No recurrence of symptoms was noted at the 3-year follow-up. To the best of our knowledge, this is the first report of biloma in an ALK-negative IMT of the liver, which may increase our understanding of hepatic IMT.

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Section: Discussionmentioning

confidence: 99%