Molecular classification of neuroendocrine tumors: Clinical experience with the 92-gene assay in >24,000 cases.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15700-e15700
Author(s):  
Andrew Eugene Hendifar ◽  
Harris S Soifer ◽  
Mason Israel ◽  
Catherine A. Schnabel
Keyword(s):  
Islet Cell ◽  
Treatment Decision ◽  
Large Cell ◽  
Molecular Classification ◽  
Tumor Type ◽  
Clinical Testing ◽  
Age And Gender ◽  
Treatment Decision Making ◽  
Gene Assay ◽  
And Gender

e15700 Background: Histological diagnosis of metastatic neuroendocrine tumors (NET) can be straightforward, but identification of the specific NET tumor type/subtype is often challenging based on morphology alone. Accurate identification of tumor type/subtype in NETs of unknown primary has implications for grading, staging, and treatment decision-making as availability of targeted therapies increases. The 92-gene assay (CancerTYPE ID) is a validated gene expression classifier of 50 tumor type/subtypes (including 7 NET subtypes) for patients with unknown/uncertain diagnoses. In this study, 92-gene assay results from cases submitted for clinical testing with molecular diagnoses of NET were evaluated. Methods: A de-identified database was created under an IRB approved protocol that contains clinical and molecular information from consecutive cases submitted for clinical testing with the 92-gene assay with sufficient tissue for testing. In this analysis, patient demographics and distribution of molecular diagnoses were analyzed based on biopsy site, age, and gender. Chi-squared tests were used to compare between subgroups. Results: Analysis included 24,484 patients. Median age was 65y (51% female). The 92-gene assay rendered a molecular diagnosis of NET in 6.3% of cases (n = 1551). Small/large cell lung carcinoma (50%) was the most common NET molecular diagnosis, followed by GI carcinoid (14%), islet cell (14%), Merkel cell (10%), and lung carcinoid (9%). In liver biopsies (39% of cases), all 7 NET subtypes were identified by the 92-gene assay. The proportion of molecular diagnoses classified as small/large cell lung NET increased with age, from 25% in < 40y to 45% in 40-65y and 55% in > 65y, and the proportion of islet cell NET decreased with age (p < 0.0001). Men had a higher proportion of molecular diagnoses that were small/large cell lung NET (53%) vs women (46%; p < 0.0001). Conclusions: These findings highlight the utility of molecular classification to identify distinct NET tumor types/subtypes to improve diagnostic precision and treatment decision-making. In addition, significant differences in the distribution of molecular diagnoses of NET subtype by age and gender were identified.

Molecular classification of cancers with an uncertain diagnosis as candidates for immunotherapy.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e23183-e23183
Author(s):  
Afsaneh Barzi ◽  
Harris S Soifer ◽  
Mason Israel ◽  
Catherine A. Schnabel
Keyword(s):  
Urinary Bladder ◽  
Lung Adenocarcinoma ◽  
Squamous Cell ◽  
Molecular Classification ◽  
Unknown Primary ◽  
Tumor Type ◽  
Age And Gender ◽  
Significant Difference ◽  
Gene Assay ◽  
And Gender

e23183 Background: FDA approvals of immunotherapy checkpoint inhibitors (CPIs) are based on organ site and thus cancers of unknown primary or with uncertain tumor type diagnoses have limited access to these revolutionary treatments. The 92-gene assay (CancerTYPE ID) is a validated gene expression classifier of 50 tumor type/subtypes for metastatic patients, six of which (lung adenocarcinoma, lung squamous cell, head & neck squamous cell, urinary bladder, kidney, and melanoma) have FDA-approved indications for CPIs. Study objectives were to analyze the distribution of the 6 tumor types with available CPIs in a large dataset of clinical cases and report patient and disease characteristics for this subset. Methods: A de-identified database was created under an IRB approved protocol that contains pathology and molecular information from consecutive cases submitted for clinical testing with the 92-gene assay. The distribution of molecular diagnoses was analyzed based on biopsy site, age, and gender. Chi-squared tests were used to compare between subgroups. Results: A total of 24,484 patients were available for analysis. Median age was 66y and 46% were male. The assay rendered a molecular diagnosis with an approved CPI in 27% (N = 6536) of cases. The most common biopsy sites were lymph node (23%), lung (15%) and liver (12%). Lung adenocarcinoma (31%) was the most common molecular diagnoses, followed by urinary bladder (20%), and head & neck squamous (16%). The proportion of melanoma molecular diagnoses decreased with age (11% in < 40y vs 4-6% across other age groups, p < 0.001), whereas the proportion of urinary bladder molecular diagnoses increased from 15% in < 40y to 23% in patients > 65y (p < 0.001). Women had a higher proportion of lung adenocarcinoma molecular diagnoses (36% vs 28% in men; p < 0.001), while kidney molecular diagnoses were more common in men (14% vs 8% in women; p < 0.001). Conclusions: These findings highlight the utility of molecular classification to identify metastatic cancers with unknown or uncertain tumor type diagnoses that are eligible for CPI. In addition, there was a significant difference in the distribution of 92-gene molecular diagnoses by age and gender among cancers susceptible to CPI.

scholarly journals The emerging role of molecular pathology in directing the systemic treatment of endometrial cancer

2021 ◽  
Vol 13 ◽  
pp. 175883592110359
Author(s):  
Amy Jamieson ◽  
Tjalling Bosse ◽  
Jessica N. McAlpine
Keyword(s):  
Endometrial Cancer ◽  
Molecular Subtypes ◽  
Treatment Decision ◽  
Molecular Classification ◽  
The Cancer Genome Atlas ◽  
Molecular Profile ◽  
Therapeutic Implications ◽  
Treatment Decision Making ◽  
Exciting Time ◽  
Classification Tool

Following the discovery of the four molecular subtypes of endometrial cancer (EC) by The Cancer Genome Atlas (TCGA) in 2013, subsequent studies used surrogate markers to develop and validate a clinically relevant EC classification tool to recapitulate TCGA subtypes. Molecular classification combines focused sequencing ( POLE) and immunohistochemistry (mismatch repair and p53 proteins) to assign patients with EC to one of four molecular subtypes: POLEmut, MMRd, p53abn and NSMP (no specific molecular profile). Unlike histopathological evaluation, the molecular subtyping of EC offers an objective and reproducible classification system that has been shown to have prognostic value and therapeutic implications. It is an exciting time in EC care where we have moved beyond treatment based on histomorphology alone, and molecular classification will now finally allow assessment of treatment efficacy within biologically similar tumours. It is now recommended that molecular classification should be considered for all ECs, and should be performed routinely in all high grade tumours. It is also recommended to incorporate molecular classification into standard pathology reporting and treatment decision-making algorithms. In this review, we will discuss how the molecular classification of EC can be used to guide both conventional and targeted therapy in this new molecular era.

Population-based evaluation of 21-gene assay in treatment decision making for early breast cancer in Ontario.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 583-583 ◽  
Author(s):  
Mark Norman Levine ◽  
Brandy Lynn Cochrane ◽  
Jim A. Julian ◽  
Maureen E. Trudeau ◽  
Andrea Eisen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Early Breast Cancer ◽  
Treatment Decision ◽  
Population Based ◽  
Treatment Decision Making ◽  
Gene Assay

Child and Parent Access to Transplant Information and Involvement in Treatment Decision Making

2018 ◽  
Vol 41 (4) ◽  
pp. 576-591 ◽  
Author(s):  
Kristin Stegenga ◽  
Rebecca D. Pentz ◽  
Melissa A. Alderfer ◽  
Wendy Pelletier ◽  
Diane Fairclough ◽  
...  
Keyword(s):  
Decision Making ◽  
Pediatric Patients ◽  
Stem Cell Transplant ◽  
Information Access ◽  
Secondary Analysis ◽  
Treatment Decision ◽  
Cell Transplant ◽  
Treatment Decision Making ◽  
And Gender ◽  
Perceived Access

Pediatric stem cell transplant processes require information sharing among the patient, family, and clinicians regarding the child’s condition, prognosis, and transplant procedures. To learn about perceived access to transplant information and involvement in decision making among child family members (9-22 years old), we completed a secondary analysis of 119 interviews conducted with pediatric patients, sibling donors, nondonor siblings/cousins, and guardians from 27 families prior to transplant. Perceptions of information access and involvement in transplant-related decisions were extracted and summarized. We compared child member perceptions to their guardians’ and examined differences by child age and gender. Most child members perceived exclusion from transplant (79%) and donor (63%) information and decisions (63%) although this varied by child role. Gender was unrelated to involvement; older age was associated with less perceived exclusion. Congruence in perspectives across children and guardians was evident for eight (30%) families, most of whom ( n = 7) excluded the children.

What role do cancer patients want to play in treatment decision making: A pooled-analysis

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 8521-8521 ◽  
Author(s):  
J. A. Sloan ◽  
M. Huschka ◽  
P. Atherton ◽  
L. F. Degner ◽  
T. Hack ◽  
...  
Keyword(s):  
Decision Making ◽  
Cancer Patients ◽  
Treatment Decision ◽  
Active Role ◽  
Pooled Analysis ◽  
Communication Styles ◽  
Tumor Type ◽  
Treatment Decision Making ◽  
Role Preference ◽  
The Us

8521 Background: The extent of patient involvement in the decision making process for cancer treatment can impact satisfaction with care. A pooled-analysis of clinical studies from the US and Canada incorporating the Control Preferences Scale (CPS) was conducted to produce normalized data regarding patient preferences and examine differences in role preference related to country, tumor type, gender and other demographics. Methods: Patient data culled from six trials indicated the treatment decision making role preferred and the role actually experienced clinically. Fisher’s Exact Tests were performed to compare role distribution concordance and association with clinical and demographic variables. Results: Data available for 3,491 patients indicated that 25% preferred an active role, 46% a collaborative role, and 29% a passive role in their medical treatment decision making. In terms of actual experience, 30% of patients reported taking on an active role, 34% collaborative, and 36% passive. Overall, 61% of patients reported playing the role they prefer. Differences between genders in the preferred role were slight, but males achieved their preferred role more often than females (66% vs. 60%, p=0.011). More women actually took a passive role than men (40% vs. 24%, p<0.0001) as did more patients in the US than Canada (84% vs. 54%, p<0.001). Canadian patients preferred more passive than active roles (33% vs 22.4%) and US patients preferred more active to passive roles (31.9% vs 14.2%) (p<0.001). Older patients preferred a more passive role and took on that role. Differences in role preference across tumor types were negligible. Conclusions: Roughly one half of the cancer patients studied indicated that they preferred to have a collaborative relationship with physicians, the remaining patients split equally between an active and passive role. The US cohort seemed to want to be more assertive than their Canadian counterparts and women ended up playing a more passive role than they preferred. Given these gender and cross-county differences these findings highlight the need for individualized patient communication styles to be incorporated into treatment plans No significant financial relationships to disclose.

Utilization of the 21-gene assay for breast cancer treatment decision-making in Alberta.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e12024-e12024
Author(s):  
Gloria Beatriz Roldan Urgoiti ◽  
Kirsten Anna Smerdon ◽  
Hua Yang ◽  
Gilbert Bigras ◽  
Judith Hugh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Cancer Treatment ◽  
Treatment Decision ◽  
Breast Cancer Treatment ◽  
Treatment Decision Making ◽  
Gene Assay

scholarly journals EPEN-36. THE TREATMENT OUTCOME OF PAEDIATRIC SUPRATENTORIAL C11ORF95-RELA FUSED EPENDYMOMA: A COMBINED REPORT FROM E-HIT SERIES AND AUSTRALIAN NEW ZEALAND CHILDREN’S HAEMATOLOGY/ONCOLOGY GROUP

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii315-iii315
Author(s):  
Chia Huan Ng ◽  
Denise Obrecht ◽  
Molly Buntine ◽  
Olivia Wells ◽  
Martin A Campbell ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Surgical Resection ◽  
Molecular Analysis ◽  
Treatment Decision ◽  
Progression Free Survival ◽  
Molecular Classification ◽  
Disease Recurrence ◽  
Outcome Data ◽  
Treatment Decision Making ◽  
Supratentorial Ependymoma

Abstract AIM Advances in molecular classification of paediatric ependymoma have been pivotal in improving risk stratification and understanding of this disease. C11orf95-RELA fused supratentorial ependymoma (ST-EPN) have been reported to have a poor outcome, with 10-year overall survival (OS) of 49% and progression free survival (PFS) of 19%. A cohort of patients from multiple international institutions with molecularly confirmed C11orf95-RELA fused ST-EPN were reviewed to assess their disease behaviour. METHOD: We reviewed patients with molecularly determined C11orf95-RELA supratentorial ependymoma diagnosed between 1999 – 2019. Demographic information, extent of surgical resection, use of radiotherapy and/or chemotherapy, disease recurrence, treatment at recurrence and clinical outcome data was collected. PFS and OS of all patients were estimated using Kaplan-Meier method. RESULTS A total of 76 ST-EPN patients with C11orf95-RELA fusion were identified (median age: 7 years3 months, range: 5 months – 18 years7 months). 58 patients (76.3%) had complete surgical resection. 70 patients(92.1%) received radiotherapy. 55 patients(72.3%) received chemotherapy. The 10-year OS of C11orf95-RELA fused ST-EPN was 72.4% and PFS was 63.8%. In contrast, ST-EPN at a single institution with unconfirmed molecular status had an OS of 61.1% and PFS of 34.9%. CONCLUSION Detailed molecular analysis identified distinct subgroups of patients with ST-EPN. Patients from this cohort with C11orf95-RELA methylation profiles had a significantly higher OS compared to previous reports and those with unconfirmed fusion status, emphasising the critical importance of complete molecular profiling to assist in treatment decision making. Complete molecular analysis in future prospective cohorts is essential for accurate risk stratification and treatment selection.

Molecular profiling with the 92-gene assay and decision-impact on cancer treatment: Interim results from a prospective, multidisciplinary study.

2015 ◽  
Vol 33 (3_suppl) ◽  
pp. 249-249
Author(s):  
Sachdev P. Thomas ◽  
Fadi S. Braiteh ◽  
Karen Ann Cherkis ◽  
Theresa N. Operana ◽  
Nichole Renee Blatner ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Metastatic Cancer ◽  
Clinical Care ◽  
Significant Proportion ◽  
Treatment Decision ◽  
Molecular Classification ◽  
Treatment Decisions ◽  
Molecular Profiling ◽  
Medical Oncologists ◽  
Gene Assay

249 Background: Metastatic lesions with unknown (CUP), unclear, or differential diagnoses pose significant challenges, particularly when presenting in the GI tract, leading to suboptimal treatment and outcomes. In clinical studies, molecular classification with the 92-gene assay demonstrated improved diagnostic accuracy compared to standard pathology techniques and improved survival in patients treated based on assay results. The current study assessed the utility of the 92-gene assay in diagnoses and treatment decision-making in clinical practice. Methods: Cases in which the 92-gene assay was ordered as part of routine clinical care were submitted into a study database via web-based, standardized, discipline-specific questionnaires. Utilization and impact of the assay were characterized for medical oncologists and pathologists. Physician-reported results from medical oncologists are included in this interim analysis of 134 cases. Results: Results from this registry-based reporting study showed that molecular profiling impacted treatment decisions in 53% of cases. Significantly, 46% of these cases reported a change in treatment regimen associated with integration of 92-gene assay results. Clinical scope included 18 tumor types with 52% having a molecular diagnosis of GI origin. The top 3 diagnoses were pancreaticobiliary, intestine, and gastroesophageal adenocarcinoma. The pre-assay working diagnosis was unknown in 41%, a differential diagnosis in 26%, and a single suspected site in 33% of cases. Conclusions: Findings from this study demonstrate that use of the 92-gene assay impacted treatment decisions and selection in a significant proportion of patients, and further define its role in clinical practice in the diagnosis and treatment planning of diagnostically-challenging metastatic cancer. [Table: see text]

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