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Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

ABSTRACT: With medical progress in cancer therapy, tyrosine kinase inhibitors (TKIs) became a standard of care for many cancer types. But the broad range of possible targeted therapies was accompanied by a plethora of potential resistance mechanisms, of which many have still to be identified. Here, we present the case of a patient with an EML4-ALK translocated non-small-cell lung cancer treated with four different TKIs. Her tumor developed not only a well-known ALK-TKI resistance mutation but also underwent a histological transformation from adenocarcinoma to squamous cell carcinoma. To confirm a shared monoclonal origin of the phenotypically different tumors, a phylogenetic reconstruction was conducted: This revealed a cluster of mutations including NFE2L2, KMT2D, and MLH1, which are possible triggering events for the transformation.

SUBMITTER: Ball M

PROVIDER: S-EPMC9059782 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

Ball Markus M Christopoulos Petros P Kirchner Martina M Allgäuer Michael M Brandt Regine R Winter Hauke H Heußel Claus Peter CP Herth Felix F Fröhling Stefan S Savai Rajkumar R Kriegsmann Mark M Schirmacher Peter P Peters Solange S Thomas Michael M Stenzinger Albrecht A Kazdal Daniel D

Cold Spring Harbor molecular case studies 20220428 3

With medical progress in cancer therapy, tyrosine kinase inhibitors (TKIs) became a standard of care for many cancer types. But the broad range of possible targeted therapies was accompanied by a plethora of potential resistance mechanisms, of which many have still to be identified. Here, we present the case of a patient with an <i>EML4-ALK</i> translocated non-small-cell lung cancer treated with four different TKIs. Her tumor developed not only a well-known <i>ALK</i>-TKI resistance mutation bu ...[more]

PMID: 35058282

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Project description:Background Ovarian metastasis is an extremely rare condition in patients with lung adenocarcinoma. Lung adenocarcinoma patients with ovarian metastases were difficult to distinguish from primary ovarian cancer. Anaplastic lymphoma kinase (ALK) gene rearrangement is only found in 3–7% of patients with lung cancer. It is worth noting that the incidence of lung cancer with ovarian metastasis is extremely low, however, ALK rearrangement is often reported in these cases. Here we reported a young woman, aged 23 years, with ALK-positive lung adenocarcinoma and ovarian metastasis. Case Description The patient underwent laparoscopic bilateral ovarian tumor resection after discovering an abdominal mass accidentally. A series of lung adenocarcinoma-specific immunohistochemical features were detected postoperatively by immunohistochemistry (IHC) analysis. Then extensive-stage metastatic masses of different sizes were identified by 2-deoxy-2-[18F]fluoro-d-glucose (18F-FDG) positron emission tomography combined with low-dose computed tomography (PET/CT), among which the largest nodule was 1.7 cm × 1.4 cm located in the middle lobe of the right lung. Genetic testing of the paraffin tissue DNA revealed the fusion mutation of EML4_ALK (E14:A20) gene. The patient was pathologically diagnosed with lung adenocarcinoma with bilateral ovarian metastasis, administered with oral alectinib [600 mg twice daily (bid)] and followed-up quarterly. Currently, the patient responded to alectinib stably, with a progression-free survival (PFS) of more than 12 months, and experienced no significant adverse events. In addition, we reviewed the publications associated with the characteristics of ALK-positive lung cancer with ovarian metastases and the identification of primary and secondary ovarian tumors. Conclusions This case provides a meaningful reference for the possibility of adnexal metastases from lung cancer, particularly for ALK-rearranged young female patients. In addition, this case highlights the advantages of IHC together with genetic testing for identifying origin sites of ovarian metastases and provides a promising treatment option.

Dataset Information

Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

Publications

Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

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