Genomic profiling in neuronal dyneinopathies and updated classifications

After failure of anthracycline- and platinum-based therapy, no effective therapies exist for management of metastatic triple-negative breast cancer (TNBC). We report a case of metastatic TNBC harboring MCL1 amplification, as identified by comprehensive genomic profiling in the course of clinical care. MCL1 is an antiapoptotic gene in the BCL2 family, and MCL1 amplification is common in TNBC (at least 20%). A personalized dose-reduced regimen centered on a combination of sorafenib and vorinostat was implemented, based on preclinical evidence demonstrating treatment synergy in the setting of MCL1 amplification. Although hospice care was being considered before treatment initiation, the personalized regimen yielded 6 additional months of life for this patient. Further rigorous studies are needed to confirm that this regimen or derivatives thereof can benefit the MCL1-amplified subset of TNBC patients.

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Liquid Biopsy for Small Cell Lung Cancer either De Novo or Transformed: Systematic Review of Different Applications and Meta-Analysis

Cancers ◽

10.3390/cancers13092265 ◽

2021 ◽

Vol 13 (9) ◽

pp. 2265

Author(s):

Elio Gregory Pizzutilo ◽

Martino Pedrani ◽

Alessio Amatu ◽

Lorenzo Ruggieri ◽

Calogero Lauricella ◽

...

Keyword(s):

Lung Cancer ◽

Systematic Review ◽

Small Cell Lung Cancer ◽

Cell Lung Cancer ◽

Liquid Biopsy ◽

De Novo ◽

Meta Analysis ◽

Small Cell ◽

Genomic Profiling ◽

Small Cell Lung

Background: The potential added value of liquid biopsy (LB) is not well determined in the case of small cell lung cancer (SCLC), an aggressive tumor that can occur either de novo or from the histologic transformation of non-small cell lung cancer (NSCLC). Methods: A systematic review of studies adopting LB in patients with SCLC have been performed to assess the clinical utility of circulating tumor DNA (ctDNA) or circulating tumor cells (CTCs). Results: After a screening of 728 records, 62 studies (32 evaluating CTCs, 27 ctDNA, and 3 both) met predetermined eligibility criteria. Only four studies evaluated LB in the diagnostic setting for SCLC, while its prognostic significance was evaluated in 38 studies and prominently supported by both ctDNA and CTCs. A meta-analysis of 11 studies as for CTCs enumeration showed an HR for overall survival of 2.63 (1.71–4.05), with a potential publication bias. The feasibility of tumor genomic profiling and the predictive role of LB in terms of response/resistance to chemotherapy was assessed in 11 and 24 studies, respectively, with greater consistency for those regarding ctDNA. Intriguingly, several case reports suggest that LB can indirectly capture the transition to SCLC in NSCLC treated with EGFR tyrosine kinase inhibitors. Conclusions: While dedicated trials are needed, LB holds potential clinical roles in both de novo and transformed SCLC. CtDNA analysis appears the most valuable and practicable tool for both disease monitoring and genomic profiling.

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Making the Most of Complexity to Create Opportunities: Comprehensive Genomic Profiling and Molecular Tumor Board for Patients with Non-Small Cell Lung Cancer (NSCLC)

Cancers ◽

10.3390/cancers13040609 ◽

2021 ◽

Vol 13 (4) ◽

pp. 609

Author(s):

Caterina Fumagalli ◽

Elena Guerini-Rocco ◽

Massimo Barberis

Keyword(s):

Lung Cancer ◽

Small Cell ◽

Tumor Board ◽

Genomic Profiling ◽

Small Cell Lung ◽

Molecular Alterations ◽

Comprehensive Genomic Profiling ◽

Molecular Tumor Board ◽

Personalized Cancer Therapy ◽

Personalized Cancer

Personalized cancer therapy matches the plan of treatment with specific molecular alterations [...]

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PCN139 Value Frameworks and Innovative Contracting for Comprehensive Genomic Profiling

Value in Health ◽

10.1016/j.jval.2021.04.231 ◽

2021 ◽

Vol 24 ◽

pp. S44-S45

Author(s):

W. Lee ◽

J. Grueger ◽

S. Spencer ◽

D.L. Veenstra ◽

J. Carlson

Keyword(s):

Genomic Profiling ◽

Comprehensive Genomic Profiling ◽

Innovative Contracting

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COT-13 Current situation and problems of cancer genomic profiling test in Kyoto University Hospital

Neuro-Oncology Advances ◽

10.1093/noajnl/vdaa143.099 ◽

2020 ◽

Vol 2 (Supplement_3) ◽

pp. ii22-ii22

Author(s):

Yoshiki Arakawa ◽

Junko Suga ◽

Yukinori Terada ◽

Kohei Nakajima ◽

Masahiro Tanji ◽

...

Keyword(s):

Treatment Options ◽

Insurance Coverage ◽

Germline Mutations ◽

University Hospital ◽

Genomic Profiling ◽

Test Results ◽

Final Test ◽

First Time ◽

To Receive ◽

Secondary Finding

Abstract Objective: Kyoto University Hospital has introduced the cancer genomic profiling tests, Oncoprime in 2015, Guardant360 in 2018, which are not under insurance coverage, FoundationOne CDx(F1CDx) and OncoGuide NCC Oncopanel system(NCC OP) in 2019, which received approval for insurance coverage for the first time in Japan. We investigated the results of cancer genomic profiling test under insurance coverage in our hospital. Methods: A special facility for the cancer genomic profiling tests was produced. To perform the cancer genomic profiling test, an outpatient must visit the facility three times (learning, ordering of the test, and getting the results). The expert panels decide the final test results and treatment options with the all information of the patients. Results: From November 2019 to March 2020, 51 and 9 patients were tested with F1CDx and NCC OP, respectively. 16 patients (31%) of F1CDX and 2 patients (22%) of NCC OP got treatment recommendations from the expert panels. However, only 5 patients (9.8%) of F1CDX and 1 patient (11%) of NCC OP received the treatments. The secondary finding suspecting germline mutations was found in 8 patients of F1CDX. Conclusion: After the approval the cancer genomic profiling tests with insurance coverage in Japan, it becomes easy for the patients to perform the test and get the genetic information of the tumor. However, it remains not easy to receive the recommended drugs because of several limitations of their usages.

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