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1.
CA Cancer J Clin ; 68(2): 97-105, 2018 03.
Article in English | MEDLINE | ID: mdl-29369334

ABSTRACT

Incidental thyroid nodules that are found on an imaging study performed for reasons other than thyroid pathology represent a common scenario encountered by health care providers. The initial workup for these nodules comprises a thorough history and physical examination, thyroid function tests, a dedicated thyroid ultrasound, and fine-needle aspiration of any suspicious lesions. Management ranges from observation and reassurance to surgical resection and depends on the cytologic diagnosis. In cases of cytologically indeterminate or discordant nodules, surgical excision (lobectomy) offers a definitive diagnosis, although molecular testing or a reasonable period of observation may be useful as less invasive adjuncts. CA Cancer J Clin 2018;68:97-105. © 2018 American Cancer Society.


Subject(s)
Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/surgery , Thyroid Nodule/diagnosis , Biopsy, Fine-Needle , Diagnosis, Differential , Humans , Incidental Findings , Molecular Diagnostic Techniques , Positron-Emission Tomography/methods , Practice Guidelines as Topic , Thyroid Function Tests , Thyroid Neoplasms/pathology , Thyroid Nodule/pathology , Thyroid Nodule/surgery , Ultrasonography/methods
2.
Stroke ; 55(7): 1951-1955, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38913793

ABSTRACT

The decision to treat an incidental finding in an asymptomatic patient results from careful risk-benefit consideration and is often challenging. One of the main aspects is after how many years the group who underwent the intervention and faced the immediate treatment complications will gain a treatment benefit over the conservatively managed group, which maintains a lower but ongoing risk. We identify a common error in decision-making. We illustrate how a risk-based approach using the classical break-even point at the Kaplan-Meier curves can be misleading and advocate for using an outcome-based approach, counting the cumulative number of lost quality-adjusted life years instead. In clinical practice, we often add together the yearly risk of the natural course up to the time point where the number equals the risk of the intervention and assume that the patient will benefit from an intervention beyond this point in time. It corresponds to the crossing of the Kaplan-Meier curves. However, because treatment-related poor outcome occurs at the time of the intervention, while the poor outcome in the conservative group occurs over a given time period, the true benefit of retaining more quality-adjusted life years in the interventional group emerges at a much later time. To avoid overtreatment of patients with asymptomatic diseases, decision-making should be outcome-based with counting the cumulative loss of quality-adjusted life years, rather than risk-based, comparing the interventional risk with the ongoing yearly risk of the natural course.


Subject(s)
Asymptomatic Diseases , Humans , Quality-Adjusted Life Years , Incidental Findings , Decision Making , Risk Assessment , Clinical Decision-Making , Stroke/prevention & control , Kaplan-Meier Estimate
3.
Hum Mol Genet ; 31(16): 2796-2809, 2022 08 23.
Article in English | MEDLINE | ID: mdl-35348702

ABSTRACT

In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically actionable rare variants in these genes in Arab populations. We used whole genome sequencing data from 6045 participants from the Qatar Genome Programme and integrated it with phenotypic data collected by the Qatar Biobank. We identified novel putative pathogenic variants in the 59 ACMG genes by filtering previously unrecorded variants based on computational prediction of pathogenicity, variant rarity and segregation evidence. We assessed the phenotypic associations of candidate variants in genes linked to cardiovascular diseases. Finally, we used a zebrafish knockdown and synthetic human mRNA co-injection assay to functionally characterize two of these novel variants. We assessed the zebrafish cardiac function in terms of heart rate, rhythm and hemodynamics, as well as the heart structure. We identified 52 492 novel variants, which have not been reported in global and disease-specific databases. A total of 74 novel variants were selected with potentially pathogenic effect. We prioritized two novel cardiovascular variants, DSP c.1841A > G (p.Asp614Gly) and LMNA c.326 T > G (p.Val109Gly) for functional characterization. Our results showed that both variants resulted in abnormal zebrafish heart rate, rhythm and structure. This study highlights medically actionable variants that are specific to the Middle Eastern Qatari population.


Subject(s)
Desmoplakins/genetics , Incidental Findings , Lamin Type A , Animals , Genetic Predisposition to Disease , Genetic Testing/methods , Humans , Lamin Type A/genetics , Qatar , Zebrafish/genetics
4.
Prostate ; 84(8): 731-737, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38506561

ABSTRACT

BACKGROUND: In incidental prostate cancer (IPCa), elevated other-cause mortality (OCM) may obviate the need for active treatment. We tested OCM rates in IPCa according to treatment type and cancer grade and we hypothesized that OCM is significantly higher in not-actively-treated patients. METHODS: Within the Surveillance, Epidemiology, and End Results database (2004-2015), IPCa patients were identified. Smoothed cumulative incidence plots as well as multivariable competing risks regression models were fitted to address OCM after adjustment for cancer-specific mortality (CSM). RESULTS: Of 5121 IPCa patients, 3655 (71%) were not-actively-treated while 1466 (29%) were actively-treated. Incidental PCa not-actively-treated patients were older and exhibited higher proportion of Gleason sum (GS) 6 and clinical T1a stage. In smoothed cumulative incidence plots, 5-year OCM was 20% for not-actively-treated versus 8% for actively-treated patients. Conversely, 5-year CSM was 5% for not-actively-treated versus 4% for actively-treated patients. No active treatment was associated with 1.4-fold higher OCM, even after adjustment for age, cancer characteristics, and CSM. According to GS, OCM reached 16%, 27%, and 35% in GS 6, 7, and 8-10 not-actively-treated IPCa patients, respectively and exceeded CSM recorded for the same three groups (2%, 6%, and 28%, respectively). CONCLUSION: Our results quantified OCM rates, confirming that in not-actively-treated IPCa patients OCM is indeed significantly higher than in their actively-treated counterparts (HR: 1.4). These observations validate the use of no active treatment in IPCa patients, in whom OCM greatly surpasses CSM (20% vs. 5%).


Subject(s)
Incidental Findings , Prostatic Neoplasms , SEER Program , Humans , Male , Prostatic Neoplasms/mortality , Prostatic Neoplasms/pathology , Prostatic Neoplasms/drug therapy , Aged , Middle Aged , Cause of Death , Neoplasm Grading , Aged, 80 and over , United States/epidemiology , Incidence
5.
Br J Cancer ; 130(9): 1420-1431, 2024 May.
Article in English | MEDLINE | ID: mdl-38532104

ABSTRACT

Liquid biopsy, a minimally invasive approach for detecting tumor biomarkers in blood, has emerged as a leading-edge technique in cancer precision medicine. New evidence has shown that liquid biopsies can incidentally detect pathogenic germline variants (PGVs) associated with cancer predisposition, including in patients with a cancer for which genetic testing is not recommended. The ability to detect these incidental PGV in cancer patients through liquid biopsy raises important questions regarding the management of this information and its clinical implications. This incidental identification of PGVs raises concerns about cancer predisposition and the potential impact on patient management, not only in terms of providing access to treatment based on the tumor molecular profiling, but also the management of revealing genetic predisposition in patients and families. Understanding how to interpret this information is essential to ensure proper decision-making and to optimize cancer treatment and prevention strategies. In this review we provide a comprehensive summary of current evidence of incidental PGVs in cancer predisposition genes identified by liquid biopsy in patients with cancer. We critically review the methodological considerations of liquid biopsy as a tool for germline diagnosis, clinical utility and potential implications for cancer prevention, treatment, and research.


Subject(s)
Genetic Predisposition to Disease , Germ-Line Mutation , Neoplasms , Humans , Liquid Biopsy/methods , Neoplasms/genetics , Neoplasms/diagnosis , Neoplasms/pathology , Biomarkers, Tumor/genetics , Incidental Findings , Prevalence , Genetic Testing/methods
6.
J Gen Virol ; 105(3)2024 03.
Article in English | MEDLINE | ID: mdl-38441565

ABSTRACT

Tusaviruses in the genus Protoparvovirus of family Parvoviridae were first identified in a diarrhoeic Tunisian child in 2014. Thereafter, high prevalence of a genetically similar virus was demonstrated in faeces from caprine and ovine species in Hungary. Here, we describe an investigation into the cause of scabby lip lesions in a 6 month-old lamb, submitted from a farm experiencing weight loss and scouring in lambs in England. Transmission electron microscopy visualised small circular particles of 18 and 22 nm in diameter in lip lesions identified as tusavirus and flumine parvovirus by Next Generation Sequencing. Liver, kidney, lung, small intestine content and faeces were also strongly positive for the tusavirus DNA as well as 10 % of faecal samples of the flock collected 2 months after the initial lip sampling. NS1 and VP1 amino acid sequences of this tusavirus displayed 99.5 and 92.89 % identity to those of a human tusavirus, respectively. These amino acid identities were at 95.5 and 89.68 % when compared to those of a goat tusavirus. Phylogenetic analysis of the NS1 and VP1 also grouped the virus in the genus Protoparvovirus and close to tusaviruses detected in human, ovine and caprine species. Wider surveillance of the virus indicated a broader geographical distribution for the virus in England. Histology of the lip tissue revealed localised areas of epidermal hyperplasia and hyperkeratosis affecting haired skin, with mild leucocyte infiltration of the subjacent dermis, but no changes to implicate virus involvement. Flumine parvovirus was concluded to be an environment contaminant. Broader studies in prevalence of these virus in UK sheep flocks and human population, animal models and experimental infections could provide insights into the pathogenesis of these novel viruses and their zoonotic potential.


Subject(s)
Goats , Pneumonia , Child , Humans , Sheep , Animals , Infant , Incidental Findings , Lip , Phylogeny
7.
Genet Med ; 26(8): 101164, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38757444

ABSTRACT

PURPOSE: The ClinGen Actionability Working Group (AWG) developed an evidence-based framework to generate actionability reports and scores of gene-condition pairs in the context of secondary findings from genome sequencing. Here we describe the expansion of the framework to include actionability assertions. METHODS: Initial development of the actionability rubric was based on previously scored adult gene-condition pairs and individual expert evaluation. Rubric refinement was iterative and based on evaluation, feedback, and discussion. The final rubric was pragmatically evaluated via integration into actionability assessments for 27 gene-condition pairs. RESULTS: The resulting rubric has a 4-point scale (limited, moderate, strong, and definitive) and uses the highest-scoring outcome-intervention pair of each gene-condition pair to generate a preliminary assertion. During AWG discussions, predefined criteria and factors guide discussion to produce a consensus assertion for a gene-condition pair, which may differ from the preliminary assertion. The AWG has retrospectively generated assertions for all previously scored gene-condition pairs and are prospectively asserting on gene-condition pairs under assessment, having completed over 170 adult and 188 pediatric gene-condition pairs. CONCLUSION: The AWG expanded its framework to provide actionability assertions to enhance the clinical value of their resources and increase their utility as decision aids regarding return of secondary findings.


Subject(s)
Evidence-Based Medicine , Humans , Evidence-Based Medicine/methods , Genetic Testing/methods , Incidental Findings , Whole Genome Sequencing
8.
Genet Med ; 26(6): 101103, 2024 06.
Article in English | MEDLINE | ID: mdl-38411041

ABSTRACT

PURPOSE: Participants in the 100,000 Genomes Project, a clinical/research initiative delivered through the UK National Health Service, were offered screening for "additional findings" (AFs): pathogenic/likely pathogenic secondary findings in genes associated with familial hypercholesterolemia or a cancer predisposition syndrome. Understanding the psychological and behavioral responses to secondary findings can inform the clinical utility of a search and disclose policy. METHODS: Thirty-two adult AF recipients took part in semi-structured interviews analyzed using deductive and inductive thematic analysis. RESULTS: Five themes were constructed: cognitive responses to an AF, emotional and psychological responses, personal control, perceived risk of AF-associated disease, and family implications. Many participants had misunderstood or incompletely remembered consent for AFs, and most were surprised or shocked to receive an AF. Although many ultimately appreciated knowing about the risk conferred, some struggled to make sense of their disease risk, which complicated decision making about risk management, particularly for women with a BRCA AF. Recipients sought control through seeking clinical evaluation and information, and informing relatives. Difficulties with conceptualizing risk and lack of AF-associated disease family history meant that some hesitated to inform relatives. CONCLUSION: Genome sequencing programs offering secondary findings require attention to consent processes. Post-disclosure care should aim to promote recipients' perceived personal control.


Subject(s)
Genetic Testing , Qualitative Research , Humans , Female , Adult , Male , Middle Aged , Genetic Predisposition to Disease , Aged , Incidental Findings , United Kingdom , Genome, Human/genetics , Disclosure
9.
Am J Med Genet A ; 194(9): e63650, 2024 09.
Article in English | MEDLINE | ID: mdl-38709060

ABSTRACT

Myotonic dystrophy type 1 is an autosomal dominant condition due to a CTG repeat expansion in the myotonic dystrophy protein kinase (DMPK) gene. This multisystem disorder affects multiple organ systems. Hypogonadism in males affected by myotonic dystrophy is commonly reported; however, the effect on female hypogonadism remains controversial. A 19-year-old female was referred to our genetics clinic due to primary amenorrhea without any family history of similar symptoms. Initial genetics evaluation identified a variant of uncertain significance in IGSF10, c.2210T>C (p.Phe737Ser). Follow-up genetic evaluation via whole genome sequencing identified at least 100 CTG repeats in the DMPK gene, thus resulting in the diagnosis of myotonic dystrophy type 1. The patient remains otherwise asymptomatic from myotonic dystrophy. This is the first report that demonstrates primary amenorrhea as a possible presenting feature of myotonic dystrophy type 1, thus providing evidence supporting female hypogonadism in myotonic dystrophy type 1.


Subject(s)
Amenorrhea , Incidental Findings , Myotonic Dystrophy , Myotonin-Protein Kinase , Whole Genome Sequencing , Humans , Myotonic Dystrophy/genetics , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/complications , Amenorrhea/genetics , Amenorrhea/diagnosis , Female , Myotonin-Protein Kinase/genetics , Young Adult , Adult , Trinucleotide Repeat Expansion/genetics , Hypogonadism/genetics , Hypogonadism/pathology , Hypogonadism/diagnosis
10.
BJU Int ; 134(2): 201-206, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38343138

ABSTRACT

OBJECTIVE: To determine surgical outcomes and stone-free rates (SFRs) when offering upfront retrograde intrarenal surgery (RIRS) to patients with asymptomatic incidental renal stones (AIRS), as active surveillance, shockwave lithotripsy or upfront intervention in patients with AIRS is still a debate among urologists. PATIENTS AND METHODS: This retrospective FLEXible Ureteroscopy Outcomes Registry (FLEXOR), supported by the Team of Worldwide Endourological Researchers (TOWER), examines adult patients who underwent RIRS. We analysed a subset of asymptomatic patients with renal stones on imaging who were treated with RIRS. Data includes patient characteristics, stone specifications, anaesthesia type, perioperative details, complications, and SFR. A multivariable logistic regression analysis was performed to assess factors associated with the SFR. RESULTS: Among 679 patients with AIRS, 640 met the inclusion criteria. The median age was 55 years, with 33.4% being female. In all, 22.1% had positive urine cultures. The median stone diameter was 12 mm, commonly in lower and interpolar locations. RIRS was preferentially performed under general anaesthesia using a reusable scope in 443 cases. Prophylactic antibiotics were administered to 314 patients. The median operation time was 58 min and the median laser time was 24 min. The SFR was 68.8%. The use of holmium laser (odds ratio [OR] 0.21, 95% confidence interval [CI] 0.06-0.63; P < 0.01) and multiple stones (OR 0.38, 95% CI 0.19-0.76; P < 0.01) were factors associated with lower odds of being stone free. Overall complications were minimal, with sepsis in 1.6% of patients. Re-interventions were performed in 76 cases (11.8%), with RIRS being the most common in 67 cases (10.6%). CONCLUSION: Our multicentre real-world study is the first of its kind that highlights the pros and cons of offering RIRS to patients with AIRS and demonstrates a favourable SFR with acceptable complications. Pre-emptively discussing potential re-intervention helps patients make informed decisions, particularly in cases involving large and multiple stones.


Subject(s)
Incidental Findings , Kidney Calculi , Ureteroscopy , Humans , Kidney Calculi/surgery , Female , Male , Middle Aged , Retrospective Studies , Ureteroscopy/adverse effects , Ureteroscopy/methods , Aged , Adult , Treatment Outcome , Asymptomatic Diseases/therapy
11.
World J Urol ; 42(1): 269, 2024 Apr 28.
Article in English | MEDLINE | ID: mdl-38679642

ABSTRACT

OBJECTIVE: The cT1a vs. cT1b substratification was introduced in 1992 but never formally tested since. We tested the discriminative ability of cT1a vs. cT1b substaging on cancer-specific survival (CSS) in contemporary incidental prostate cancer (PCa) patients. DESIGN, SETTING AND PARTICIPANTS: Incidental (cT1a/cT1b) PCa patients were identified within the Surveillance, Epidemiology, and End Results (SEER) database (2004-2015). OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Kaplan-Meier estimates, as well as uni- and multivariable Cox regression models predicted CSS at five years. Subgroup analyses addressed CSS at five years according to active vs. no local treatment (NLT) as well as Gleason score sum (GS; 6 vs. 7 vs. ≥ 8). RESULTS AND LIMITATION: We identified a total of 5,155 incidental prostate cancer patients of which 3,035 (59%) were stage cT1a vs. 2,120 (41%) were stage cT1b. In all incidental PCa patients, CSS at five years was 95% (95% CI 0.94-0.96). In cT1a patients, CSS at five years was 98 vs. 90% in cT1b patients (p < 0.001). In multivariable Cox regression analyses, cT1b independently predicted 2.8-fold higher CSM than cT1a (HR 2.5, 95% CI 1.8-3.6, p < 0.001) for incidental PCa patients who underwent NLT. In subgroup analyses, cT1b represented an independent predictor of higher CSM in GS ≥ 8 (HR 3.0, 95% CI 1.4-6.2, p = 0.003), and GS 7 (HR 3.9, 95% CI 1.6-9.7 p = 0.002) patients who underwent NLT. For actively treated patients, cT1b was not independently associated with worse CSM. CONCLUSION: The historical subclassification of cT1a vs. cT1b in incidental PCa patients displayed a strong ability to discriminate CSS in contemporary GS 7 and GS ≥ 8 patients who underwent NLT. However, no statistically significant difference was recorded in actively treated patients. In consequence, the importance of the current substage stratification predominantly applies to GS ≥ 8 patients who undergo a non-active treatment approach.


Subject(s)
Incidental Findings , Neoplasm Staging , Prostatic Neoplasms , Humans , Male , Prostatic Neoplasms/pathology , Prostatic Neoplasms/mortality , Prostatic Neoplasms/therapy , Aged , Middle Aged , SEER Program , Neoplasm Grading , Survival Rate , Retrospective Studies , Kaplan-Meier Estimate
12.
World J Urol ; 42(1): 485, 2024 Aug 14.
Article in English | MEDLINE | ID: mdl-39143371

ABSTRACT

PURPOSE: Despite advancements in prostate multiparametric magnetic resonance imaging (mpMRI) and fusion biopsy (FB), the management of incidental prostate cancer (IPCa) after surgery for benign prostatic obstruction (BPO) remains unclear. The aim of this retrospective study is to determine the prevalence of IPCa in our cohort and identify potential predictors for its occurrence. METHODS: We enrolled patients underwent TURP or simple prostatectomy for BPO at our high-volume center between January 2020-December 2022. Data on age, pre-operative total PSA (tPSA) and PSA density (PSAd) levels, prostate volume, previous MRI, biopsies, specimen weight, rates of positive tissue slices, ISUP score and three-month tPSA were collected. RESULTS: Of 454 patients with negative digital rectal examination who underwent BPO surgery, 74 patients (16.3%) were found to have IPCa. Of these, 33 patients (44.6%) had undergone previous mpMRI. Among the patients who had mpMRI, 23 had negative mpMRI results for suspected prostate cancer, while 10 had positive mpMRI findings (PIRADS ≥ 3) but no evidence of tumor upon FB. KW analysis indicates that PSAd was statistically associated with higher ISUP score, while at univariable regression analysis negative mpMRI (p = 0.03) was the only potential predictor for IPCa. CONCLUSIONS: Among the ISUP groups, PSAd showed a correlation with the tumor, while negative mpMRI was protective against clinically significant PCa. In the era of mpMRI and FB, the IPCa rates found at our center is higher than reported in existing literature and if it were confirmed with further studies, maybe there is a need for expansion in urology guidelines.


Subject(s)
Incidental Findings , Prostatectomy , Prostatic Hyperplasia , Prostatic Neoplasms , Humans , Male , Retrospective Studies , Prostatic Neoplasms/surgery , Prostatic Neoplasms/pathology , Prostatic Neoplasms/diagnostic imaging , Prostatic Neoplasms/epidemiology , Aged , Prostatic Hyperplasia/surgery , Middle Aged , Prevalence , Prostatectomy/methods , Multiparametric Magnetic Resonance Imaging , Magnetic Resonance Imaging , Transurethral Resection of Prostate
13.
Eur Radiol ; 34(7): 4218-4229, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38114849

ABSTRACT

OBJECTIVES: To establish deep learning models for malignancy risk estimation of sub-centimeter pulmonary nodules incidentally detected by chest CT and managed in clinical settings. MATERIALS AND METHODS: Four deep learning models were trained using CT images of sub-centimeter pulmonary nodules from West China Hospital, internally tested, and externally validated on three cohorts. The four models respectively learned 3D deep features from the baseline whole lung region, baseline image patch where the nodule located, baseline nodule box, and baseline plus follow-up nodule boxes. All regions of interest were automatically segmented except that the nodule boxes were additionally manually checked. The performance of models was compared with each other and that of three respiratory clinicians. RESULTS: There were 1822 nodules (981 malignant) in the training set, 806 (416 malignant) in the testing set, and 357 (253 malignant) totally in the external sets. The area under the curve (AUC) in the testing set was 0.754, 0.855, 0.928, and 0.942, respectively, for models derived from baseline whole lung, image patch, nodule box, and the baseline plus follow-up nodule boxes. When baseline models externally validated (follow-up images not available), the nodule-box model outperformed the other two with AUC being 0.808, 0.848, and 0.939 respectively in the three external datasets. The resident, junior, and senior clinicians achieved an accuracy of 67.0%, 82.5%, and 90.0%, respectively, in the testing set. The follow-up model performed comparably to the senior clinician. CONCLUSION: The deep learning algorithms solely mining nodule information can efficiently predict malignancy of incidental sub-centimeter pulmonary nodules. CLINICAL RELEVANCE STATEMENT: The established models may be valuable for supporting clinicians in routine clinical practice, potentially reducing the number of unnecessary examinations and also delays in diagnosis. KEY POINTS: • According to different regions of interest, four deep learning models were developed and compared to evaluate the malignancy of sub-centimeter pulmonary nodules by CT images. • The models derived from baseline nodule box or baseline plus follow-up nodule boxes demonstrated sufficient diagnostic accuracy (86.4% and 90.4% in the testing set), outperforming the respiratory resident (67.0%) and junior clinician (82.5%). • The proposed deep learning methods may aid clinicians in optimizing follow-up recommendations for sub-centimeter pulmonary nodules and may lead to fewer unnecessary diagnostic interventions.


Subject(s)
Deep Learning , Incidental Findings , Lung Neoplasms , Tomography, X-Ray Computed , Humans , Tomography, X-Ray Computed/methods , Lung Neoplasms/diagnostic imaging , Male , Female , Middle Aged , Risk Assessment/methods , Multiple Pulmonary Nodules/diagnostic imaging , Solitary Pulmonary Nodule/diagnostic imaging , Aged , Radiographic Image Interpretation, Computer-Assisted/methods
14.
Am J Hematol ; 99(5): 973-974, 2024 05.
Article in English | MEDLINE | ID: mdl-38270251

ABSTRACT

Mastocytoma in a colon polyp positive for tryptase, CD117/KIT, S100, weakly positive for CD25.


Subject(s)
Mastocytoma , Myeloproliferative Disorders , Humans , Incidental Findings , Proto-Oncogene Proteins c-kit/genetics , Colon
15.
J Surg Res ; 295: 253-260, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38048748

ABSTRACT

INTRODUCTION: The purpose of this study was to examine the prevalence of incidental findings (IFs) identified during workup of trauma patients and the effectiveness with which they were documented and communicated. MATERIALS AND METHODS: We performed a retrospective analysis of all trauma patients ≥15 y of age in 2018, who underwent at least one computed tomography scan. Patients' Electronic Medical Record was reviewed for the presence of IFs. IFs were classified in three categories: category 1, which includes highly significant findings requiring attention during hospitalization; category 2, which warrants attention in an outpatient basis; and category 3, which includes nonsignificant findings that require no follow-up. RESULTS: 836 patients were identified, of which 582 had at least one IF. Of the patients with IFs; 14 (2.4%) were category 1, 138 (23.7%) were category 2, and 569 (97.8%) met category 3 criteria. All category 1 patients received appropriate documentation of their IFs. Of patients with category 2 findings, only 13% had documentation of the IFs. Patients with IFs had longer length of stay (P: 0.04) and lower probability of being discharged to home (P < 0.01) compared to patients with no IFs. Only 12.5% of the patients admitted to trauma surgery service received an outpatient follow-up. CONCLUSIONS: There was timely documentation and intervention for all patients with category 1 IFs. However, 87% of patients with category 2 IFs had inadequate documentation of the IF and outpatient follow-up. Outpatient follow-up of IFs poses a challenge for trauma patients partially due to their discharge disposition.


Subject(s)
Incidental Findings , Tomography, X-Ray Computed , Humans , Retrospective Studies , Tomography, X-Ray Computed/methods , Patient Discharge , Documentation
16.
J Surg Oncol ; 129(4): 754-764, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38088226

ABSTRACT

BACKGROUND: Up to 60% of incidentally detected gallbladder cancers (GBCs) have a primary stage of pathologic T2 stage (pT2), defined by invasion of the peri-adventitial tissue by the tumour, a plane breached during a simple cholecystectomy. This study assesses the impact of incidental detection of pT2 GBCs on survival outcomes. METHODS: Retrospective analysis of pT2 GBCs undergoing a curative resection was performed. Patients who received neoadjuvant chemotherapy before an upfront radical resection were excluded. Outcomes of patients undergoing upfront surgery (uGBC) and incidentally detected tumours (iGBC) were compared. RESULTS: From a total of 1356 patients, 425 patients with pT2 GBCs were included. Of these, 118 (27.7%) and 307 (72.23%) patients were in the uGBC and iGBC groups, respectively. Patients with iGBC had significantly higher locoregional, (62 [19.8%] vs. 11 [9.3%]; p = 0.009), liver, (36 [11.5%] vs. 4 [3.4%]; p = 0.01), and abdominal wall recurrences (23 [7.4%] vs. 1 [0.8%]; p = 0.009). Five-year disease free survival rates were 68.7% and 49.2% in the uGBC and iGBC groups, respectively (p = 0.013). Five-year overall survival rates were 71.7% and 64.6% in the uGBC and iGBC groups, respectively (p = 0.317). CONCLUSIONS: Incidentally detected pT2 GBCs have significantly poorer outcomes compared to similarly staged patients undergoing an upfront radical cholecystectomy.


Subject(s)
Carcinoma in Situ , Gallbladder Neoplasms , Humans , Gallbladder Neoplasms/surgery , Gallbladder Neoplasms/pathology , Retrospective Studies , Neoplasm Staging , Cholecystectomy , Carcinoma in Situ/pathology , Incidental Findings
17.
Q J Nucl Med Mol Imaging ; 68(2): 143-151, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38860275

ABSTRACT

BACKGROUND: 18F-fluorodeoxyglucose (18F-FDG) positron-emission tomography/computed tomography (PET/CT) as an imaging modality for the whole body has shown its value in detecting incidental colorectal adenoma. In clinical practice, adenomatous polyps can be divided into three groups: low-grade intraepithelial neoplasia (LGIN), high-grade intraepithelial neoplasia (HGIN) and cancer, which can lead to different clinical management. However, the relationship between the 18F-FDG PET/CT SUVmax and the histological grade of adenomatous polyps is still not established, which is a challenging but valuable task. METHODS: This retrospective study included 255 patients with colorectal adenoma (CRA) or colorectal adenocarcinomas (AC) who had corresponding 18F-FDG uptake incidentally found on PET/CT. The correlations of SUVmax with pathological characteristics and tumor size were assessed. Neoplasms were divided into LGIN, HGIN, and AC according to histological grade. Receiver operating characteristic (ROC) analysis was applied to evaluate the predictive value of the SUVmax-only model and comprehensive models which were established with imaging and clinical predictors identified by univariate and multivariate analysis. RESULTS: The SUVmax was positively correlated with histological grades (r=0.529, P<0.001). Univariate and multivariate analysis showed that SUVmax was an independent risk factor among all groups except between HGIN and AC. The area under the curves (AUCs) of the comprehensive model for distinguishing between AC and adenoma, LGIN and HIGN, LGIN and AC, and HGIN and AC were 0.886, 0.780, 0.945, 0.733, respectively, which is statistically higher than the AUCs of the SUVmax-only model with 0.812, 0.733, 0.863, and 0.688, respectively. CONCLUSIONS: As an independent risk factor, SUVmax based on 18F-FDG PET/CT is highly associated with the histological grade of CRA. Thus, 18F-FDG PET/CT can serve as a noninvasive tool for precise diagnosis and assist in the preoperative formulation of treatment strategies for patients with incidental CRA.


Subject(s)
Adenoma , Colorectal Neoplasms , Fluorodeoxyglucose F18 , Incidental Findings , Neoplasm Grading , Positron Emission Tomography Computed Tomography , Humans , Male , Colorectal Neoplasms/diagnostic imaging , Colorectal Neoplasms/pathology , Female , Middle Aged , Aged , Adenoma/diagnostic imaging , Adenoma/pathology , Retrospective Studies , Adult , Aged, 80 and over , Predictive Value of Tests
18.
J Nucl Cardiol ; 35: 101826, 2024 May.
Article in English | MEDLINE | ID: mdl-38387737

ABSTRACT

BACKGROUND: Cardiac 18F-fluorodeoxyglucose (FDG)-PET-CT plays an important role in the assessment of cardiovascular diseases. Effective management of urgent scan findings facilitates optimal patient care. METHODS: We characterised the management of urgent, expected and unexpected findings in patients referred for cardiac [18F]fluorodeoxyglucose integrated with computed tomography (FDG-PET-CT) at the Royal Brompton Hospital (United Kingdom). Urgent findings are escalated by the reporting physicians/radiologists raising RadAlert notifications to the referring clinician. We characterised the indications and time to management (TTM) between the RadAlert and the resulting management. As controls, we characterised the TTM of 33 urgent findings identified before the RadAlert system was implemented. RESULTS: Of the 1497 consecutive FDG-PET-CT scans screened (April 2021 to February 2023), 93 RadAlerts were suitable for analysis (TTM 7 days [interquartile range: 2-14]). Expected urgent findings included active cardiac sarcoidosis (56%; TTM 8 days [5-18]), heart transplant rejection (12%; 6 ± 4 days), infective endocarditis (9%; 2 days [1-12]), cardiac device infections (5%; 1 day [0-2]), acute myocarditis (2%; 5 and 14 days) and epicardial mass (1%; 1 day). TTM did not differ significantly between indications (P = 0.06). RadAlert cases had significantly shorter TTM than controls without RadAlert, P = 0.001. After the RadAlerts, 81% of patients had clinical reviews, and 55% had escalation of medical/surgical therapies. Unexpected findings (total N = 45; median TTM 6 days [1-10]) included malignancies (N = 3), infections (N = 2), pneumothorax (N = 1), benign diagnosis (N = 30), unclear diagnosis (N = 5) and 4 findings disappeared on repeat imaging. CONCLUSIONS: Cardiac FDG-PET-CT identifies expected and unexpected findings in a range of cardiovascular diseases. Serious, unexpected findings are rare and can be effectively escalated by the RadAlert system.


Subject(s)
Cardiovascular Diseases , Fluorodeoxyglucose F18 , Positron Emission Tomography Computed Tomography , Radiopharmaceuticals , Humans , Male , Female , Middle Aged , Positron Emission Tomography Computed Tomography/methods , Cardiovascular Diseases/diagnostic imaging , Aged , Adult , Incidental Findings
19.
Pediatr Blood Cancer ; 71(7): e30983, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38605509

ABSTRACT

BACKGROUND: Neuroblastoma varies widely in risk. Risk indicators in infants with incidental neuroblastoma refine treatment confidence for observation or intervention. The potential of functional imaging, particularly PET/CT, remains to be defined. PROCEDURE: A retrospective review of infants under 18 months diagnosed with incidental neuroblastoma from 2008 to May 2022 in our institute was conducted. Before October 2015, incidental patients were treated similarly to symptomatic cases, undergoing biopsy or surgical excision upon diagnosis (early cohort). Post October 2015 (late cohort), treatment decisions were guided by PET/CT findings, with 18F-DOPA PET/CT confirming diagnosis and staging. For tumors with low 18F-FDG uptake, an expectant observation approach was considered. Patient characteristics, diagnostic methods, image findings at diagnosis, treatment courses, and responses were compared between cohorts. RESULTS: Thirty infants less than 18 months were identified with incidental neuroblastoma and completed PET/CT at diagnosis. The early and late cohorts each comprised 15 patients. In the late cohort, nine out of 15 patients (60%) presented with localized FDG non-avid tumors were offered the option of expectant observation. Of these, seven patients opted for observation, thereby avoiding surgery. Treatment outcomes were comparable between early and late cohorts, except for one mortality of a patient who, despite showing 18F-FDG activity, declined treatment. CONCLUSIONS: This study demonstrates the potential utility of 18F-DOPA and 18F-FDG PET/CT scans in aiding clinical decision-making for infants with localized, incidental neuroblastoma. Given the concerns regarding radiation exposure, such imaging may be valuable for cases with suspected metastasis, initial large tumor size, or growth during follow-up.


Subject(s)
Dihydroxyphenylalanine , Fluorodeoxyglucose F18 , Neuroblastoma , Positron Emission Tomography Computed Tomography , Radiopharmaceuticals , Humans , Neuroblastoma/diagnostic imaging , Neuroblastoma/therapy , Neuroblastoma/pathology , Infant , Male , Female , Positron Emission Tomography Computed Tomography/methods , Retrospective Studies , Dihydroxyphenylalanine/analogs & derivatives , Infant, Newborn , Incidental Findings , Feasibility Studies , Follow-Up Studies , Clinical Decision-Making , Prognosis
20.
Clin Exp Rheumatol ; 42(4): 905-913, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38683205

ABSTRACT

Granulomatosis with polyangiitis (GPA) is an uncommon disorder that mainly involves the upper and lower respiratory tract and kidney, presenting as sinusitis, saddle nose, otitis media, pulmonary nodule and cavity, rapidly progressive glomerulonephritis. It also affects skin, eye, heart, joint and nervous system. Renal involvement in GPA is commonly manifested as necrotising glomerulonephritis, while renal mass is very rare. We herein present two hospitalised cases with fever, pulmonary cavity and renal mass. Clinical course and examinations of the cases, from symptoms to diagnosis, will be discussed in detail, along with a relevant literature review of this unusual renal manifestation.


Subject(s)
Granulomatosis with Polyangiitis , Humans , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/drug therapy , Granulomatosis with Polyangiitis/diagnosis , Male , Middle Aged , Tomography, X-Ray Computed , Female , Incidental Findings , Adult , Biopsy , Kidney/pathology , Treatment Outcome
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