Comprehensive genomic profiling aids in understanding the lesion origins of a patient with six synchronous invasive lung adenocarcinomas: a case study

Song, Yang; Jia, Ziqi; Wu, Pancheng; Wang, Weiwei; Ou, Qiuxiang; Bao, Hua; Yu, Ming; Wu, Xue; Liu, Peng; Liang, Ning; Zhang, Shuyang; Li, Shanqing

doi:10.1186/s12890-020-1119-9

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…Apart from histopathological reports used as a golden standard, genetic analyses of the clonal origin of tumors are useful because these can help to determine whether MPLC have arisen from the same clone and therefore the same tumor [1,16]. Song et al [17] reported a patient with six synchronous invasive adenocarcinomas that were revealed due to whole-exome sequencing and analysis of nonsynonymous mutations.…”

Section: Discussionmentioning

confidence: 99%

Multiple primary synchronous tumors in the lungs

et al. 2021

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Introduction. The aim of this manuscript was to report a case series of three patients diagnosed with multiple primary synchronous cancers (MPSC) in the lungs who were treated multidisciplinary at a single-center institution. Outline of cases. Three male patients were referred to the Clinic for Chest Surgery, at the Military Medical Academy in Belgrade, Serbia for planned surgical treatment of previously detected lung cancers. During subsequent diagnostic procedures, second primary synchronous tumors were detected in all presented cases. All patients underwent surgical resection and chemotherapy or a combination of chemo- and radio- therapy. Two of three patients died with an average survival period of 32 months. One patient is still alive, with current disease-free interval of 21 months. Conclusion. MPSC is a rare condition. The final diagnosis should be based on clinical, radiological, histopathological, and genetic analyses. Treatment modalities of MPSC depend on the clinical staging of the disease, patient?s general medical condition, and general assessment of tumor operability and resectability.

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Section: Discussionmentioning

confidence: 99%

Multiple primary synchronous tumors in the lungs

et al. 2021

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“…The development of MPLCs is an interesting phenomenon because it arises from an identical germline genetic background and environmental exposure and yet results in highly heterogeneous lesions. Previous studies on the molecular and genomic data of MPLCs have found that tumours developing in this context show clonally distinct molecular profiles, distinct oncogenic alterations, and can be of a different pathological type [ 18 , 19 , 20 , 21 ], suggesting variable responses of MPLCs to targeted therapies, and strong implications for the therapeutic management of MPLC patients. We describe a rare case of MPLCs, harbouring a mixed histology of SCLC and NSCLCa, which we analyse through whole genome sequencing.…”

Section: Introductionmentioning

confidence: 99%

Genome Sequencing of Multiple Primary Lung Cancers Harbouring Mixed Histology and Spontaneously Regressing Small-Cell Lung Cancer

Thomas,

Rashed,

Faul

et al. 2024

JPM

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Up to 15% of lung cancer patients present two or more anatomically separate primary lung lesions, known as multiple primary lung cancers (MPLCs). While surgical resection or stereotactic body radiation therapy (SBRT) is the standard of care for most early-stage lung cancer cases, this may not be an option for patients with widespread tumours, highlighting the need for the improved targeted management of MPLC patients, which remains challenging. Moreover, the spontaneous regression (SR) of small-cell lung cancer (SCLC) is rare, with only four cases accounted for between 1988 and 2018. We report a rare MPLC case harbouring the mixed histology of non-small-cell lung cancer adenocarcinoma (NSCLCa) and SCLC and the SR of SCLC without treatment. The patient was diagnosed in 2015 with MPLCs, identified as NSCLCa and SCLC. In 2016, a restaging PET/CT scan prior to the start of treatment showed SCLC SR. In 2018, a further tumour was detected in the patient’s mandible, and a re-biopsy of the SCLC revealed histology consistent with NSCLCa. Whole-genome sequencing (WGS) analysis identified a high expression of programmed death ligand-1 (PDL-1) in the NSCLCa, which was treated with pembrolizumab. WGS revealed distinct genomic profiles and mutational mechanisms in MPLCs, suggesting the need for distinct targeted therapies to improve the management of MPLC patients and highlighting the importance of precision evaluation.

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Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway

Li,

Huang,

Guo

et al. 2024

npj Precis. Onc.

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The incidence of multiple primary lung cancer (MPLC) is increasing, with some of our surgical patients exhibiting numerous lesions. We defined lung cancer with five or more primary lesions as super MPLCs. Elucidating the genomic characteristics of this special MPLC subtype can help reduce disease burden and understand tumor evolution. In our cohort of synchronous super early-stage MPLCs (PUMCH-ssesMPLC), whole-exome sequencing on 130 resected malignant specimens from 18 patients provided comprehensive super-MPLC genomic landscapes. Mutations are enriched in PI3k-Akt and MAPK pathways. Their BRAF mutation frequency (31.5%) is significantly higher than MPLC with fewer lesions and early-stage single-lesion cancer, while EGFR mutations are significantly fewer (13.8%). As lesion counts increase, BRAF mutations gradually become dominant. Also, invasive lesions more tend to have classic super-MPLC mutation patterns. High-frequency BRAF mutations, especially Class II, and low-frequency EGFR mutations could be a reason for the limited effectiveness of targeted therapy in super-MPLC patients.

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Comprehensive genomic profiling aids in understanding the lesion origins of a patient with six synchronous invasive lung adenocarcinomas: a case study

Cited by 3 publications

References 15 publications

Multiple primary synchronous tumors in the lungs

Multiple primary synchronous tumors in the lungs

Genome Sequencing of Multiple Primary Lung Cancers Harbouring Mixed Histology and Spontaneously Regressing Small-Cell Lung Cancer

Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway

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