A fully virtual and nationwide molecular tumor board for gynecologic cancer patients: the virtual experience of the MITO cooperative group

Bartoletti, Michele; Bergamini, Alice; Giannone, Gaia; Nero, Camilla; Musacchio, Lucia; Farolfi, Alberto; Passarelli, Anna; Kuhn, Elisabetta; Castaldo, D.; Lombardo, Valentina; Palma, Teresa; Lorusso, Domenica; Puglisi, Fabio; Giorgi, Ugo De; Valabrega, Giorgio; Schettino, Clorinda; Scambia, Giovanni; Capoluongo, Ettore; Pignata, Sandro

doi:10.1136/ijgc-2022-003425

Cited by 8 publications

(5 citation statements)

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“…Moreover, the data analysis revealed several genomic alterations (Table 1) including PIK3CA mutation in exon 20 (H1047R, variant allele frequency 78.2%), which was considered targetable. In April 2022, given the lack of validated standard treatment, following discussion in the Molecular Tumor Board (MTB) of MITO for gynecological cancer patients (15), the patient started treatment with oral PI3K alpha-selective inhibitor namely alpelisib at the standard dose of 300 mg once daily on a continuous schedule in 28-day cycles until disease progression, unacceptable toxicity, or withdrawal of consent.…”

Section: Case Presentationmentioning

confidence: 99%

The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer

Passarelli

Ventriglia²,

Pisano³

et al. 2023

Front. Oncol.

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Endometrial cancer (EC) is the most common gynecologic cancer in Europe and its prevalence is increasing. EC includes a biological and clinical heterogeneous group of tumors, usually classified as type I (endometrioid) or type II (non-endometrioid) based on the histopathological characteristics. In 2013, a new molecular classification was proposed by The Cancer Genome Atlas (TCGA) based on the comprehensive molecular profiling of EC. Several molecular somatic alterations have been described in development and progression of EC. Using these molecular features, EC was reclassified into four subgroups: POLE ultra-mutated, MSI hypermutated, copy-number low, and copy-number high that correlate with the prognosis. To this regard, it is widely reported that EC has more frequent mutations in the phosphatidylinositol 3-kinase (PI3K) pathway signaling than any other tumor. PIK3CA is the main significant mutated gene after PTEN alterations. Overall, over 90% of endometrioid tumors have activating PI3K molecular alterations that suggests its critical role in the EC pathogenesis. Thus, the dysregulation of PI3K pathway represents an attractive target in EC treatment. Herein, we report a radiological and clinically meaningful response to a selective PIK3 inhibitor in a patient with extensively pre-treated advanced endometrioid EC harboring a somatic activating PIK3CA hotspot mutation. These evidences provide the rational for translational strategies of the PI3K inhibition and could support the clinical usefulness of PIK3CA genotyping in advanced EC. To our knowledge, this is the first clinical case of PIK3CA-mutated EC successfully treated with alpelisib.

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Section: Case Presentationmentioning

confidence: 99%

The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer

Passarelli

Ventriglia²,

Pisano³

et al. 2023

Front. Oncol.

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“…With the increased use of NGS testing, the need for accessible clinical expertise in precision oncology will rise. As outlined above, molecular tumor boards and peer‐to‐peer consultation can help in this setting, and the concept of virtual molecular tumor boards can help to serve communities and caregivers that otherwise would not have access to dedicated precision oncology programs 106–109 …”

Section: Implementation Of Precision Oncology: Current Challengesmentioning

confidence: 99%

“…As outlined above, molecular tumor boards and peer-to-peer consultation can help in this setting, and the concept of virtual molecular tumor boards can help to serve communities and caregivers that otherwise would not have access to dedicated precision oncology programs. [106][107][108][109] To offer the concept of precision oncology to a wider range of patients, health care systems will need to find sustainable ways to offer access to quality-assured molecular testing. Offering patients access to molecular profiling, regardless of their place of residence, is a considerable logistical undertaking.…”

Section: Implementation Of Precision Oncology: Current Challengesmentioning

confidence: 99%

Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance

Casolino,

Beer,

Chakravarty

et al. 2024

CA A Cancer J Clinicians

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The last decade has seen rapid progress in the use of genomic tests, including gene panels, whole‐exome sequencing, and whole‐genome sequencing, in research and clinical cancer care. These advances have created expansive opportunities to characterize the molecular attributes of cancer, revealing a subset of cancer‐associated aberrations called driver mutations. The identification of these driver mutations can unearth vulnerabilities of cancer cells to targeted therapeutics, which has led to the development and approval of novel diagnostics and personalized interventions in various malignancies. The applications of this modern approach, often referred to as precision oncology or precision cancer medicine, are already becoming a staple in cancer care and will expand exponentially over the coming years. Although genomic tests can lead to better outcomes by informing cancer risk, prognosis, and therapeutic selection, they remain underutilized in routine cancer care. A contributing factor is a lack of understanding of their clinical utility and the difficulty of results interpretation by the broad oncology community. Practical guidelines on how to interpret and integrate genomic information in the clinical setting, addressed to clinicians without expertise in cancer genomics, are currently limited. Building upon the genomic foundations of cancer and the concept of precision oncology, the authors have developed practical guidance to aid the interpretation of genomic test results that help inform clinical decision making for patients with cancer. They also discuss the challenges that prevent the wider implementation of precision oncology.

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“…Previous studies have explored the use of MTBs in breast [ 6 ], colorectal [ 7 ], esophageal [ 8 ], gynecological [ 9 ], head and neck [ 1 ], lung[ 10 ], upper-gastrointestinal [ 11 ], and urological [ 12 ] cancers, as well as in other mixed cancer cohorts [ 13 , 14 ]. Their role in neuro-oncology has been explored in recent publications.…”

Section: Introductionmentioning

confidence: 99%

Virtual multi-institutional tumor board: a strategy for personalized diagnoses and management of rare CNS tumors

Rogers,

Wall,

Acquaye-Mallory

et al. 2024

J Neurooncol

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Purpose Multidisciplinary tumor boards (MTBs) integrate clinical, molecular, and radiological information and facilitate coordination of neuro-oncology care. During the COVID-19 pandemic, our MTB transitioned to a virtual and multi-institutional format. We hypothesized that this expansion would allow expert review of challenging neuro-oncology cases and contribute to the care of patients with limited access to specialized centers. Methods We retrospectively reviewed records from virtual MTBs held between 04/2020–03/2021. Data collected included measures of potential clinical impact, including referrals to observational or therapeutic studies, referrals for specialized neuropathology analysis, and whether molecular findings led to a change in diagnosis and/or guided management suggestions. Results During 25 meetings, 32 presenters discussed 44 cases. Approximately half (n = 20; 48%) involved a rare central nervous system (CNS) tumor. In 21% (n = 9) the diagnosis was changed or refined based on molecular profiling obtained at the NIH and in 36% (n = 15) molecular findings guided management. Clinical trial suggestions were offered to 31% (n = 13), enrollment in the observational NCI Natural History Study to 21% (n = 9), neuropathology review and molecular testing at the NIH to 17% (n = 7), and all received management suggestions. Conclusion Virtual multi-institutional MTBs enable remote expert review of CNS tumors. We propose them as a strategy to facilitate expert opinions from specialized centers, especially for rare CNS tumors, helping mitigate geographic barriers to patient care and serving as a pre-screening tool for studies. Advanced molecular testing is key to obtaining a precise diagnosis, discovering potentially actionable targets, and guiding management.

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A fully virtual and nationwide molecular tumor board for gynecologic cancer patients: the virtual experience of the MITO cooperative group

Cited by 8 publications

References 0 publications

The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer

The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer

Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance

Virtual multi-institutional tumor board: a strategy for personalized diagnoses and management of rare CNS tumors

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