scholarly journals Sustainable cytopathology in the precision medicine era: Exploring new sources for molecular testing in thyroid cytology specimens

2019 ◽  
Vol 127 (3) ◽  
pp. 143-145
Author(s):  
Michiya Nishino
Keyword(s):  
Precision Medicine ◽  
Molecular Testing ◽  
Thyroid Cytology

scholarly journals Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology

2021 ◽  
Vol 2 (2) ◽  
pp. 77-92
Author(s):  
Esther Diana Rossi ◽  
Philippe Vielh
Keyword(s):  
Thyroid Nodules ◽  
Adult Population ◽  
Needle Aspiration ◽  
Common Finding ◽  
Molecular Testing ◽  
Additional Tool ◽  
Thyroid Cytology ◽  
Hürthle Cell ◽  
Cell Neoplasm ◽  
Undetermined Significance

Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these nodules are benign, whereas 5–15% of them are malignant. The pre-operative diagnosis of cancer is a critical challenge in order to ensure that each patient can be treated with the best tailored management with a reduction of unnecessary surgery for benign lesions. Fine needle aspiration cytology (FNAC) represents the first and most important diagnostic tool for the evaluation of thyroid lesions. According to the literature, FNAC is able to render a conclusive diagnosis in up to 70–80% of all cases. For the remaining 20–30% of nodules, cytological diagnoses fall into the category of indeterminate lesions mostly due to the lack of specific morphological features. According to the Bethesda system for reporting thyroid cytopathology (TBSRTC), indeterminate lesions can be sub-stratified into three different subcategories including “atypia of undetermined significance/follicular lesion of undetermined significance-AUS/FLUS”; “follicular or Hürthle cell neoplasm/suspicious for follicular or Hürthle cell neoplasm-FN/SFN”; and “suspicious for malignancy-SFM”. Many of these indeterminate lesions undergo repetition or diagnostic lobectomy. Nonetheless, the majority of these cases will have a benign diagnosis due to the fact that the rate of cancer ranges between 6 and 30%. It stands to reason that the application of ancillary technique, mostly molecular testing, emerged as a critical additional tool for those thyroid indeterminate lesions. Since the early 1990s, material collected from cytological samples yields sufficient and adequate cells for the detection of point mutation or gene fusions. Nonetheless, the further availability of new sequencing technologies such as next-generation sequencing (NGS) has led to more comprehensive molecular applications adopted now in clinical use. The current review investigates the multiple advances in the field of molecular testing applied in thyroid cytology.

Molecular testing in diagnosis of indeterminate thyroid cytology: Trends and drivers

2020 ◽  
Vol 48 (11) ◽  
pp. 1144-1151
Author(s):  
Neeta Kumar ◽  
Ruchika Gupta ◽  
Sanjay Gupta
Keyword(s):  
Molecular Testing ◽  
Thyroid Cytology

scholarly journals Utility of molecular tests in cytopathology

CytoJournal ◽  
2014 ◽  
Vol 11 ◽  
pp. 5 ◽  
Author(s):  
Arthur David Somoza ◽  
F. Zahra Aly
Keyword(s):  
Molecular Analysis ◽  
Diagnostic Information ◽  
Classification Systems ◽  
Cervical Cytology ◽  
Pancreatic Cysts ◽  
Molecular Testing ◽  
Thyroid Cytology ◽  
Anaplastic Lymphoma ◽  
Molecular Tests ◽  
Test Kit

With the popularity of interventional radiology, diagnostic material obtained can be limited requiring critical decisions on making the best use of it. Molecular testing using nanogram amounts of tissue can add useful diagnostic information by improving sensitivity and/or specificity of the diagnosis. This review examines the use of molecular tests in cervical cytology, “indeterminate” thyroid cytology specimens, pancreatic cyst fluid, urinary tract and pulmonary adenocarcinoma cytologic material. Molecular human papillomavirus (HPV) testing combined with cervical cytology increases sensitivity of detection of high grade lesions. In cytologically negative cases, the HPV negative predictive value endorses longer screening intervals. With the high prevalence of benign thyroid nodules, cytology plays a vital role in screening. However, 10-40% of the specimens obtained are cytologically indeterminate. Molecular analysis of these specimens can predict the malignant risk in these cases. Increased detection of pancreatic cysts has necessitated accurate pre-operative diagnosis delineating non-mucinous from mucinous cysts, which have a potential for progression to adenocarcinoma. Multimodal diagnosis of pancreatic cysts and molecular analysis help to clarify neoplastic risk; and in cases of limited fluid, may be the only available diagnostic information. Urothelial carcinoma (UC) of the bladder, a common cancer with frequent recurrences, requires lifelong surveillance. The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy. Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements. The move toward standardization of reporting of cytology specimens commencing with cervical smears and more recently, thyroid cytology specimens is also changing the practice of cytopathology. Combining the stringent cytology criteria with ancillary molecular testing is expected to yield more discrete and diagnostic categories for research and reporting. The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

Clinical utility of molecular testing to select therapy in relapsed/refractory non-Hodgkin lymphoma: Mayo Clinic Center for Individualized Medicine experience.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 11571-11571
Author(s):  
Nabila Nora Bennani ◽  
Stephen Maxted Ansell ◽  
Thomas E. Witzig ◽  
Andew L. Feldman ◽  
Tammy M McAllister ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Targeted Therapy ◽  
Precision Medicine ◽  
Mayo Clinic ◽  
Individualized Medicine ◽  
Tumor Board ◽  
Current Therapy ◽  
Molecular Profile ◽  
Molecular Testing ◽  
Molecular Alterations

11571 Background: Relapsed/refractory (R/R) non-Hodgkin lymphomas (NHL) have a poor prognosis with limited treatment options. Our expanding knowledge of molecular alterations seen in R/R NHL allows identification of patients that potentially may benefit from a precision medicine approach. However, experience in routine clinical implementation of precision medicine has been limited. Here, we summarize our clinical experience in molecular characterization of RR NHL targeted therapy (TT) using next-generation sequencing (NGS), and selection of targeted therapy (TT) based on molecular profile. Methods: We conducted a prospective study in RR NHL through the Center for Individualized Medicine at Mayo Clinic. Consenting patients underwent NGS using FoundationOne Heme panel from biopsies done at time of relapse. Results of NGS were discussed at the Genomic Tumor Board and recommendations for TT were given based on matching specific molecular alteration(s) with potential agent(s) predicted to be active based on NGS. The agents could include FDA-approved, off-label use and clinical trial therapies. Results: 28 cases were enrolled: 18 aggressive NHL, 10 follicular lymphoma (FL). Molecular alterations were present in all cases. In aggressive B-cell NHL, CDKN2A/B gene cluster alterations were seen in 73% (8/11), while seen in only 1/7 T-cell lymphomas (TCL), and 1/10 FL. TP53 deletions were second most common genomic alterations in DLBCL (57%) and seen in 40% FL. JAK-STAT and ERBB pathways were altered in TCL (2/7 each). IGH-BCl-2 gene rearrangement were common in FL (70%), followed by MLL gene alterations (50%). Targetable mutations were present in 86% (24/28) of cases. A TT was recommended in all 24 cases, but received by 2 patients only. Remaining patients did not due to benefit from current therapy (10/24), ineligibility or lack of clinical trial (7/24) or interim clinical deterioration (5/24). Conclusions: Targetable mutations were identified in most cases of RR NHL with TT recommended for all cases. However, access to TT limits potential clinical benefit of molecular-based matching strategy. More studies are needed to assess impact on clinical outcomes.

Oncology precision medicine for hepatobiliary and pancreatic cancer: An institutional review.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e14626-e14626
Author(s):  
Geoffrey Bellini ◽  
Jennifer Jo Godden ◽  
James L. Weese ◽  
Aaron Chevinsky ◽  
Wesley Allan Papenfuss ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Genetic Alterations ◽  
Molecular Testing ◽  
Cancer Type ◽  
Extrahepatic Cholangiocarcinoma ◽  
Term Outcome ◽  
Primary Tumors ◽  
Long Term Outcome ◽  
Molecular Alterations ◽  
Number Of Patients

e14626 Background: Hepatobiliary cancers - hepatocellular carcinoma (HCC), intra or extrahepatic cholangiocarcinoma (I/EC), and gallbladder carcinoma (GB) - and pancreatic adenocarcinoma (PC) remain a leading cause of death with little improvement in long-term outcome. Recent studies have suggested that these cancers harbor actionable mutations to varying degrees. The aim of our study was to examine the number of patients (Pts) with these primary tumors who underwent molecular testing in a large vertically integrated health system. Subsequently, we analyzed the percentage of that population who may be candidates for oncology precision medicine (OPM) directed therapy. Methods: We identified Pts with HCC, IC, EC, GB in an IRB reviewed OPM database of our system over a one year period. Pts who underwent molecular panel testing were selected out, and their molecular alterations were identified and stratified by cancer type. Results: 304 total Pts were identified. 61 (20%) underwent molecular testing broken down as follows: 17/132 (13%) I/EC and HCC, 3/11 (27%) GB, and 41/161 (25%) PC. Quantity not sufficient for testing was in 10/61 (16%), of which 5/10 (50%) were resubmitted and tested successfully. 6/61 (10%) were cancelled or deemed not appropriate. Test recommended potential actionability was 8/17 (47%) of I/EC and HCC, 2/3 (67%) of GB, and 25/41 (61%) of PC. Conclusions: OPM is a dynamic area of increasing testing and learning. We found 13-27% of hepatobiliary and pancreatic Pts had molecular testing, which suggests the potential to increase molecular screening for this difficult group of tumors. Total genetic alterations (TGA) and clinically relevant genomic alterations (CRGA) per patient are similar to Ross et al. ( http://ow.ly/k52a30nBMnU ) for GB. Final interpretation regarding pragmatic actionability (patient on drug) and clinical outcomes are still under investigation.[Table: see text]

scholarly journals Update on Molecular Testing for Cytologically Indeterminate Thyroid Nodules

2018 ◽  
Vol 142 (4) ◽  
pp. 446-457 ◽  
Author(s):  
Michiya Nishino ◽  
Marina Nikiforova
Keyword(s):  
Fine Needle Aspiration ◽  
Test Performance ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Fine Needle ◽  
Diagnostic Uncertainty ◽  
Thyroid Cytology ◽  
Molecular Tests ◽  
Pubmed Search

Context.— Approximately 15% to 30% of thyroid nodules that undergo fine-needle aspiration are classified as cytologically indeterminate, presenting management challenges for patients and clinicians alike. During the past several years, several molecular tests have been developed to reduce the diagnostic uncertainty of indeterminate thyroid fine-needle aspirations. Objective.— To review the methodology, clinical validation, and recent peer-reviewed literature for 4 molecular tests that are currently marketed for cytologically indeterminate thyroid fine-needle aspiration specimens: Afirma, ThyroSeq, ThyGenX/ThyraMIR, and RosettaGX Reveal. Data Sources.— Peer-reviewed literature retrieved from PubMed search, data provided by company websites and representatives, and authors' personal experiences. Conclusions.— The 4 commercially available molecular tests for thyroid cytology offer unique approaches to improve the risk stratification of thyroid nodules. Familiarity with data from the validation studies as well as the emerging literature about test performance in the postvalidation setting can help users to select and interpret these tests in a clinically meaningful way.

scholarly journals Impact of Precision Medicine on Drug Repositioning and Pricing: A Too Small to Thrive Crisis

2018 ◽  
Vol 8 (4) ◽  
pp. 36 ◽  
Author(s):  
Venkataswarup Tiriveedhi
Keyword(s):  
Precision Medicine ◽  
Clinical Laboratory ◽  
Drug Repositioning ◽  
Laboratory Diagnostics ◽  
Molecular Testing ◽  
Pricing Strategies ◽  
Pricing Decisions ◽  
Economic Trends ◽  
Is Value

The pricing of targeted medicines continues to be a major area of contention in healthcare economics. This issue is further complicated by redefining the role of molecular testing in precision medicine. Currently, whilst pricing of clinical laboratory diagnostics is cost-based, drug pricing is value-based. The pricing for molecular testing is under pressure to change the traditional business model, for it has a critical subsidiary role in determining the final value of targeted medicines. The market size for drugs is reduced by molecular testing when patients with the same disease are stratified based on their genetics, it is critical to determine the value of this new enhanced drug specificity to realize its full pricing potential. However, these value-based pricing strategies require a careful understanding of changing market conditions, especially, in the context of stratified patient segments made possible by precision medicine. In this article, we discuss the various factors impacting pricing decisions, and consider evolving economic trends in precision medicine.

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