scholarly journals Molecular Testing Can Impact Clinical Decision Making and Therapeutic Approach in Thyroid Cancer

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A893-A894
Author(s):  
Gonzalo J Acosta Garcia ◽  
Stephanie Smooke Praw
Keyword(s):  
Decision Making ◽  
Thyroid Cancer ◽  
Thyroid Nodule ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Surgical Pathology ◽  
Endocrine Surgery ◽  
Molecular Profile ◽  
Molecular Testing ◽  
History Of

Abstract We present the case of a patient with a thyroid nodule of indeterminate cytology on fine-needle aspiration (FNA) biopsy whose molecular profile significantly impacted clinical decision making and treatment. A 77-year-old woman with a history of hyperthyroidism presented to our clinic for a second opinion regarding management of a recently discovered right thyroid nodule. Thyroid ultrasound (US) 6 months prior showed a 2.6 cm, heterogeneous nodule with peripheral vascular flow; not characterized based on ATA or TIRADS criteria. Family history was significant for papillary thyroid cancer in daughter at age 35 years. The patient had no history of head or neck irradiation. She had no compressive symptoms or manifestations of hyper or hypothyroidism. FNA biopsy of the nodule was done twice in 4 months, and cytology was consistent with follicular lesion of undetermined significance (FLUS, Bethesda III) in both occasions. Repeat FNA biopsy at our institution showed follicular neoplasm (FN, Bethesda IV), and molecular testing using ThyroSeq v3 was positive for HRAS and TERT mutations, which conferred a >95% risk of cancer. Patient was referred to Endocrine Surgery and total thyroidectomy was recommended based on nodule’s molecular profile and associated hyperthyroidism. No suspicious lymph nodes were noted on preoperative US. No gross local invasion observed intraoperatively. Surgical pathology showed intrathyroidal FN without invasion. However, given disparity between pathology findings and molecular markers, specimen was sent for outside blinded pathology review which concluded to be a follicular thyroid carcinoma with capsular invasion but no angiolymphatic invasion or extrathyroidal extension. Based on these findings, along with the known HRAS and TERT mutations, it was advised to proceed with radioiodine (RAI) remnant ablation. Patient was prepared with thyrotropin alfa and received 29 millicuries of RAI. Post-treatment scan showed focal neck uptake consistent with ablated thyroid tissue and no distant metastases. Patient had an excellent response to therapy, without evidence of biochemical or structural recurrence 2 years later. Molecular testing of cytologically indeterminate thyroid nodules (Bethesda III, IV) has become an important tool to better refine risk of malignancy. Furthermore, the presence of certain mutations or mutation combinations, such as RAS and TERT co-occurrence, suggests a more aggressive behavior associated with worse outcomes. As a result, a more aggressive approach might be recommended. Our case illustrates how molecular testing can significantly influence therapeutic decisions such as extent of surgery, interpretation of surgical pathology and/or use of RAI. Further research is needed to determine if its routine use may lead to improved cancer-related outcomes or if it is cost-effective in the risk stratification of differentiated thyroid cancer.

scholarly journals INNV-28. MOLECULAR TESTING IN NEURO-ONCOLOGY – ASSESSMENT OF UTILITY AND PRACTICE PATTERNS. A SOCIETY FOR NEURO-ONCOLOGY MEMBERSHIP SURVEY

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi136-vi136
Author(s):  
Maciej Mrugala ◽  
Susan Chang
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Practice Patterns ◽  
Clinical Decision ◽  
Educational Programs ◽  
Molecular Testing ◽  
Targeted Agents ◽  
Younger Patients ◽  
Tumor Boards ◽  
The Subject

Abstract BACKGROUND Molecular testing (MT) is utilized in neuro-oncology with increasing frequency. Multiple molecular panels are available providing a spectrum of information. We were interested in learning how this information is acquired, what are the practice patterns regarding this type of testing, how are the results utilized in patient care and how prepared neuro-oncologists are to interpret these results. METHODS We conducted a survey using the Society for Neuro-Oncology membership database. We developed a set of 13 questions and administered the survey to 2022 members using the online platform. RESULTS We received 153 responses (7.5% of membership). 89% percent of responders routinely order MT. Of those who do not order MT on all patients, 50% test younger patients and 57% midline tumors. 83% use MT in recurrent glioma. Other common indications for MT included: metastatic tumors, meningioma, medulloblastoma, ATRT. Majority (60%) use in-house panels, followed by Foundation One (35%), TEMPUS (13%), CARIS (10%) and other panels (23%). For 57% of respondents, the data from MT was somewhat useful and for 41% it was very useful. 78% used the results of MT for clinical decision-making. BRAF, EGFR/ALK, H3K27 mutations were most commonly used for treatment decisions. 50% of respondents have molecular tumor boards at their institutions and a majority of practitioners share the results of MT with their patients (95%). Respondents would like to see SNO-endorsed official guidelines on MT, organized lists of targeted agents available for specific mutations, a database of targetable mutations and clinical trials and more educational programs on the subject. CONCLUSIONS Molecular testing is neuro-oncology is commonly done. Many providers rely on the information for clinical decision making where appropriate. In-house and commercial genetic panels are equally used in practice. There continues to be a need for more education on the subject and development of neuro-oncology specific guidelines.

Clinical Problem Solving: Decreased Level of Consciousness and Unexplained Hydrocephalus

2022 ◽  
pp. 194187442110567
Author(s):  
Naomi Niznick ◽  
Ronda Lun ◽  
Daniel A. Lelli ◽  
Tadeu A. Fantaneanu
Keyword(s):  
Decision Making ◽  
Differential Diagnosis ◽  
Clinical Decision Making ◽  
Clinical Problem ◽  
Clinical Decision ◽  
Decision Making Process ◽  
Clinical Problem Solving ◽  
Level Of Consciousness ◽  
History Of

We present a clinical reasoning case of 42-year-old male with a history of type 1 diabetes who presented to hospital with decreased level of consciousness. We review the approach to coma including initial approach to differential diagnosis and investigations. After refining the diagnostic options based on initial investigations, we review the clinical decision-making process with a focus on narrowing the differential diagnosis, further investigations, and treatment.

scholarly journals Papillary Thyroid Carcinoma With Cystic Changes in a Patient With Prior History of Toxic Nodule

2020 ◽  
Vol 8 ◽  
pp. 232470962094267
Author(s):  
Gliceida Maria Galarza Fortuna ◽  
Paola Rios ◽  
Ailyn Rivero ◽  
Gabriela Zuniga ◽  
Kathrin Dvir ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Thyroid Nodules ◽  
Molecular Testing ◽  
Papillary Thyroid ◽  
Thyroid Lobectomy ◽  
Cystic Changes ◽  
History Of

Thyroid nodules are palpable on up to 7% of asymptomatic patients. Cancer is present in 8% to 16% of those patients with previously identified thyroid nodules. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, accounting for approximately 85% of thyroid cancers. Although most appear as solid nodules on ultrasound imaging, a subset of 2.5% to 6% has cystic components. The presence of cystic changes within thyroid nodules decreases the accuracy of fine needle aspiration (FNA) in the diagnosis of thyroid cancer, given the difficulty of obtaining appropriate cellular content. This becomes a diagnostic and therapeutic challenge. We present a case of a 31-year-old female with a 1-month history of palpitations, fatigue, and night sweats, who underwent evaluation, and was diagnosed with subclinical hyperthyroidism. She presented 4 years later with compressive symptoms leading to repeat FNA, showing Bethesda III-atypia of undetermined significance and negative molecular testing. Thyroid lobectomy revealed PTC with cystic changes. This case is a reminder that patients with hyperfunctioning thyroid nodule should have closer follow-up. It poses the diagnostic dilemma of how much is good enough in the evaluation and management of a thyroid nodule. Early detection and action should be the standard of care.

scholarly journals Influence of psychiatric or social backgrounds on clinical decision making: a randomized, controlled multi-centre study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Yosuke Yamauchi ◽  
Takashi Shiga ◽  
Kiyoshi Shikino ◽  
Takahiro Uechi ◽  
Yasuaki Koyama ◽  
...  
Keyword(s):  
Decision Making ◽  
Repeated Measures ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Background Information ◽  
Accuracy Score ◽  
Multi Centre Study ◽  
Additional Information ◽  
Free Care ◽  
History Of

Abstract Background Frequent and repeated visits from patients with mental illness or free medical care recipients may elicit physicians’ negative emotions and influence their clinical decision making. This study investigated the impact of the psychiatric or social background of such patients on physicians’ decision making about whether to offer recommendations for further examinations and whether they expressed an appropriate disposition toward the patient. Methods A randomized, controlled multi-centre study of residents in transitional, internal medicine, or emergency medicine was conducted in five hospitals. Upon randomization, participants were stratified by gender and postgraduate year, and they were allocated to scenario set 1 or 2. They answered questions pertaining to decision-making based on eight clinical vignettes. Half of the eight vignettes presented to scenario set 1 included additional patient information, such as that the patient had a past medical history of schizophrenia or that the patient was a recipient of free care who made frequent visits to the doctor (biased vignettes). The other half included no additional information (neutral vignettes). For scenario set 2, the four biased vignettes presented to scenario set 1 were neutralized, and the four neutral vignettes were rendered biased by providing additional information. After reading, participants answered decision-making questions regarding diagnostic examination, interventions, or patient disposition. The primary analysis was a repeated-measures ANOVA on the mean management accuracy score, with patient background information as a within-subject factor (no bias, free care recipients, or history of schizophrenia). Results A total of 207 questionnaires were collected. Repeated-measures ANOVA showed that additional background information had influence on mean accuracy score (F(7, 206) = 13.84, p <  0.001 partial η2 = 0.063). Post hoc pairwise multiple comparison test, Sidak test, showed a significant difference between schizophrenia and no bias condition (p <  0.05). The ratings for patient likability were lower in the biased vignettes compared to the neutral vignettes, which was associated with the lower utilization of medical resources by the physicians. Conclusions Additional background information on past medical history of schizophrenia increased physicians’ mistakes in decision making. Patients’ psychiatric backgrounds should not bias physicians’ decision-making. Based on these findings, physicians are recommended to avoid being influenced by medically unrelated information.

DECISION MAKING IN PEDIATRIC SPINAL DEFORMITY

Neurosurgery ◽  
2008 ◽  
Vol 63 (suppl_3) ◽  
pp. A54-A68 ◽  
Author(s):  
Justin S. Smith ◽  
Christopher I. Shaffrey ◽  
Mark F. Abel ◽  
Christopher P. Ames
Keyword(s):  
Decision Making ◽  
Spinal Deformity ◽  
Pediatric Patients ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Nonoperative Treatment ◽  
Treatment Modalities ◽  
Decision Making Process ◽  
History Of ◽  
Diagnosis And Classification

ABSTRACT OBJECTIVE To review the concepts involved in the decision-making process for management of pediatric patients with spinal deformity. METHODS The literature was reviewed in reference to pediatric deformity evaluation and management. RESULTS Pediatric spinal deformity includes a broad range of disorders with differing causes, natural histories, and treatments. Appropriate categorization of pediatric deformities is an important first step in the clinical decision-making process. An understanding of both nonoperative and operative treatment modalities and their indications is requisite to providing treatment for pediatric patients with spinal deformity. The primary nonoperative treatment modalities include bracing and casting, and the primary operative treatments include nonfusion instrumentation and fusion with or without instrumentation. In this article, we provide a review of pediatric spinal deformity classification and an overview of general treatment principles. CONCLUSION The decision-making process in pediatric deformity begins with appropriate diagnosis and classification of the deformity. Treatment decisions, both nonoperative and operative, are often predicated on the basis of the age of the patient and the natural history of the disorder.

Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making — A Selected Case Series

2018 ◽  
Vol 230 (06) ◽  
pp. 305-313 ◽  
Author(s):  
Heidi Bächli ◽  
Jonas Ecker ◽  
Cornelis van Tilburg ◽  
Dominik Sturm ◽  
Florian Selt ◽  
...  
Keyword(s):  
Decision Making ◽  
Molecular Diagnostics ◽  
Clinical Management ◽  
Clinical Decision Making ◽  
Case Series ◽  
Clinical Decision ◽  
Cns Tumors ◽  
Molecular Testing ◽  
Cancer Predisposition Syndrome ◽  
Pediatric Cns Tumors

AbstractCentral nervous system (CNS) tumors account for the highest mortality among pediatric malignancies. Accurate diagnosis is essential for optimal clinical management. The increasing use of molecular diagnostics has opened up novel possibilities for more precise classification of CNS tumors. We here report a single-institutional collection of pediatric CNS tumor cases that underwent a refinement or a change of diagnosis after completion of molecular analysis that affected clinical decision-making including the application of molecularly informed targeted therapies. 13 pediatric CNS tumors were analyzed by conventional histology, immunohistochemistry, and molecular diagnostics including DNA methylation profiling in 12 cases, DNA sequencing in 8 cases and RNA sequencing in 3 cases. 3 tumors had a refinement of diagnosis upon molecular testing, and 6 tumors underwent a change of diagnosis. Targeted therapy was initiated in 5 cases. An underlying cancer predisposition syndrome was detected in 5 cases. Although this case series, retrospective and not population based, has its limitations, insight can be gained regarding precision of diagnosis and clinical management of the patients in selected cases. Accuracy of diagnosis was improved in the cases presented here by the addition of molecular diagnostics, impacting clinical management of affected patients, both in the first-line as well as in the follow-up setting. This additional information may support the clinical decision making in the treatment of challenging pediatric CNS tumors. Prospective testing of the clinical value of molecular diagnostics is currently underway.

Avoiding anchoring bias in unexplained chronic pain: an unexpected diagnosis of synovial osteochondromatosis

2021 ◽  
Vol 14 (4) ◽  
pp. e240462
Author(s):  
Rehana Murani ◽  
Ranita Harpreet Kaur Manocha
Keyword(s):  
Decision Making ◽  
Chronic Pain ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Diagnostic Error ◽  
Synovial Osteochondromatosis ◽  
Unexplained Pain ◽  
Anchoring Bias ◽  
History Of ◽  
Yellow Flags

Unconscious biases may influence clinical decision making, leading to diagnostic error. Anchoring bias occurs when a physician relies too heavily on the initial data received. We present a 57-year-old man with a 3-year history of unexplained right thigh pain who was referred to a physiatry clinic for suggestions on managing presumed non-organic pain. The patient had previously been assessed by numerous specialists and had undergone several imaging investigations, with no identifiable cause for his pain. Physical examination was challenging and there were several ‘yellow flags’ on history. A thorough reconsideration of the possible diagnoses led to the discovery of hip synovial osteochondromatosis as the cause for his symptoms. Over-reliance on the referral information may have led to this diagnosis being missed. In patients with unexplained pain, it is important to be aware of anchoring bias in order to avoid missing rare diagnoses.

Revisiting Mastocytosis in Adults: A Mayo Clinic Case Series of 342 Patients Including Information on KITD816V and JAK2V617F.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1757-1757
Author(s):  
Ken-Hong Lim ◽  
Ayalew Tefferi ◽  
Terra L Lasho ◽  
Christy Finke ◽  
Chin Yang Li ◽  
...  
Keyword(s):  
Decision Making ◽  
Bone Marrow ◽  
Weight Loss ◽  
Mast Cell ◽  
Prognostic Value ◽  
Who Classification ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Age At Diagnosis ◽  
History Of

Abstract Background: Systemic mastocytosis (SM) has a varied presentation ranging from indolent forms with limited morbidity over many years to the rapidly fatal mast cell leukemia (MCL). This heterogeneity complicates clinical decision making regarding choice and timing of therapy. The aim of this study was to evaluate the prognostic value of the 2001 World Health Organization (WHO) classification of SM, and to refine risk stratification within SM sub-groups to facilitate clinical decision making. Information on KITD816V and JAK2V617F mutation analysis and clinical correlates is also provided. Methods: Patient records in the institutional electronic database from January 1976 to October 2007 were reviewed and SM patients 18 years of age or older identified; the date of diagnosis ranged from July 1964 to October 2007. Only those patients where diagnosis was confirmed by bone marrow (BM) histology were included in the analysis. KITD816V mutation analysis was performed by DNA sequencing. JAK2V617F was screened by allele-specific quantitative PCR analysis. Results: i. Clinical characteristics at presentation: A total of 342 SM patients were identified (154 female; median age at diagnosis=57 years; range 19 to 87 years). Per the 2001 WHO classification, 159 had indolent SM (ISM; median age=49 years), 41 aggressive SM (ASM; median age=65 years), 138 SM with associated clonal hematological non-mast cell lineage disease (SM-AHNMD; median age=65 years), and 4 MCL (median age=55 years) (p-value for age &lt;0.0001). 140 (41%) patients had urticaria pigmentosa (UP) (63% with ISM; p&lt;0.0001), 160 (47%) mast cell (MC) mediator release symptoms (69% with ISM; p&lt;0.0001), 107 (31%) skeletal symptoms, and 142 (42%) constitutional symptoms (61% with ASM/SM-AHNMD versus 19% with ISM; p&lt;0.0001). 123 patients (36%) had palpable splenomegaly (57% with SM-AHNMD; p&lt;0.0001). 56 patients (16%) exhibited prominent eosinophilia (absolute eosinophil count &gt;1500/mcl) – 31% and 22% with SM-AHNMD and ASM, respectively, versus 3% with ISM (p&lt;0.0001); 12 of 23 patients (52%) with eosinophilia who were tested carried the FIP1L1-PDGFRA mutation. Serum tryptase (normal &lt;11.5 ng/mL) was measured in 160 patients (47%) and almost all (96%) had an elevated level (median=64 ng/mL; range=4 to 2000 ng/mL; 33 patients had &gt;200 ng/mL). ii. Disease course and prognostic factors After a median follow-up of 20.7 months (range=0–417), 153 deaths were recorded. 17 patients (5%) transformed to acute myeloid leukemia (AML; n=14) or MCL (n=3), most frequently with SM-AHNMD (11% versus 0% for ISM; p&lt;0.0001). The median overall survival was 63 months (ISM=198 months, ASM=41 months; SM-AHNMD=24 months, and MCL=2 months; p&lt;0.0001). Multivariate analysis of parameters at the time of diagnosis showed a significant and independent association between inferior survival and WHO sub-type (p&lt;0.0001), age at diagnosis (p&lt;0.0001), history of weight loss (p=0.01), anemia (p=0.007), thrombocytopenia (p=0.0008), hypoalbuminemia (p=0.0008), and excess BM blasts (&gt;5%; p=0.004). A similar analysis in ISM identified anemia (p=0.04), hypoalbuminemia (P=0.002), and BM MC ≥ 30% (p=0.03) as independent predictors of inferior survival; the corresponding parameters in ASM were age at diagnosis (p=0.002) and history of weight loss (p=0.003). iii)KITD816V andJAK2V617F analysis Archived bone marrow was available in 165 patients for KITD816V and JAK2V617F analysis. By DNA sequencing, overall KITD816V detection rate was 28%: ISM 20%, ASM 29%, SM-AHNMD 33% (p=0.4). In patients with ASM (p=0.003) and SM-AHNMD (p=0.001), detection of KITD816V was associated with inferior survival. Greater than 1% (range 1–57) JAK2V617F allele burden was detected in 6 patients (4%); all belonged to SM-AHNMD including 4 with non-MC lineage myeloproliferative neoplasm. Conclusions: The current study confirms the prognostic value of the WHO subclassification of SM and identifies advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess BM blasts as additional adverse prognostic factors. In ISM, presence of anemia, hypoalbuminemia, or BM MC ≥ 30% is associated with inferior survival. In ASM and SM-AHNMD, BM KITD816V allele burden might influence survival. JAK2V617F is rare in SM and when found, it is almost always in the context of SM-AHNMD.

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