Screening For Malignancy Research Articles

Characteristics of anti-transcriptional intermediary factor 1 gamma autoantibody-positive dermatomyositis patients in Singapore

This study aimed to determine the clinical profile and outcome of anti-transcriptional intermediary factor 1 gamma autoantibody (anti-TIF1-γ Ab)-positive dermatomyositis patients and propose cancer screening programmes based on regional cancer trends. Data on history, physical findings and investigations were collected using chart review on dermatomyositis patients seen at a tertiary hospital in Singapore from 1 January 2015 to 30 June 2021. Comparisons were made between anti-TIF1-γ Ab-positive and anti-TIF1-γ Ab-negative dermatomyositis. Ninety-six dermatomyositis patients were analysed and 36 patients were positive for anti-TIF1-γ Ab. Anti-TIF1-γ Ab-positive patients had more frequent heliotrope rashes, shawl sign, periungual erythema, holster sign, Gottron's papules, dysphagia and truncal weakness (P<0.05). They had less frequent interstitial lung disease, polyarthritis, cutaneous ulcers, palmar papules and mechanic's hands (P<0.05). After 48 months of follow-up, a higher proportion of anti-TIF1-γ Ab-positive patients developed cancer compared with Ab-negative patients (63.9% versus 8.5%; odds ratio 19.1, 95% confidence interval 6.1-59.8; P<0.001). Nasopharyngeal carcinoma (NPC) and breast cancer were the most common malignancies, followed by bowel, lung and non-Hodgkin lymphoma. Most malignancies (78.3%) occurred within 13 months prior to, or 4 months after the onset of dermatomyositis. The mortality rate for anti-TIF1-γ Ab-positive patients was significantly higher than Ab-negative patients (36.1% vs 16.7%, P=0.031), and Kaplan-Meier survival estimates at 24 months were 66% and 89%, respectively (P=0.0153). These observational data support periodic screening of NPC and other malignancies in patients with anti-TIF1-γ Ab-positive dermatomyositis in Singapore.

An emerging technique for the dual‑targeting chemo‑radio‑ablation of generic micro‑cancers in conjunction with cancer liquid biopsy.

Cancer liquid biopsy (CLB) aims for the detection of circulating tumor cells, cell‑free DNA or RNA, and specifically expressed proteins, lipids and metabolites present in the bio‑fluids of patients. Rapid advances in technologies for sampling such bio‑specimens and for genomic sequencing have fostered the development of authority‑approved CLB tests in clinical practice for the early screening and diagnosis of malignancies. However, perhaps some solid tumors could have been reliably detected using CLB, while they were still too small to be found in patients using currently available imaging technologies. This could impose troublesome clinical scenarios. In this communication article, the author would like to propose a potential solution that eventually may be used to combat such unwanted embarrassing clinical issues by using one episode of targeted radiotheragnostics, namely OncoCiDia.

Prediction of NAC Response in Breast Cancer Patients Using Neural Network

Breast cancer is now the most prominent female cancer in both developing and developed nations, and that it is the largest risk factor for mortality worldwide. Notwithstanding the well-documented declines in breast cancer mortality during the last twenty years, occurrence rates continue to rise, and do so more rapidly in nations where rates were previously low. This has highlighted the significance of survival concerns and illness duration treatment. Patient data after first chemotherapy is collected from the hospital and this data is then analysed using neural network. Proposed architecture gives result as the patient is responding to the chemotherapy or not. Moreover, it also gives the risk factor in surgery. Early prediction of such things gives broader idea about how treatment should go. Once the Breast cancer is detected and if chemotherapy is done, then it becomes very important to check whether patient is responding to the chemotherapy or not. So, the proposed system architecture is designed in such a way that it detects if the patient is responding to the chemotherapy or not. And if patient is not responding to the chemotherapy, then patient should go to the surgery. The proposed system is also compared with the existing algorithms machine learning and neural network techniques like support vector machine (SVM) and Decision Tree(DT) algorithms. The proposed neural network architecture gives 99.19% accuracy where SVM and DT gives 89.15% and 74.82%. Bosom disease is known to have asymptomatic stages, which is distinguished simply by mammography and around 10% of patients getting mammography recovers further assessments, and among them 8 to 10% require bosom biopsy. Alert the cautious consideration of the radiologist to peruse mammograms to perceive mammograms is generally 30 to 60 seconds for every picture. In any case, the weakness and explicitness of human radiologist's mammography was controlled by 77-87% and 89-97%, individually. As of late, twofold peruses are allowed with most screening programs, yet this will additionally disintegrate the time heap of human radiologists. As of late, the headway of man-made brainpower (AI) has made it conceivable to recognize programmed infection on clinical pictures in radiology, pathology, and even gastrointestinalities. For bosom malignant growth screening, all the more profound examinations have additionally been led, 86.1 to 9.0% responsiveness and 79.0 to 90.0% exceptional elements. By and by, there are a couple of distributions for built up disease location of mammography under Asian with higher bosom thickness contrasted with white individuals. Bosom thickness can influence the malignant growth pace of mammography pictures. Hence, the motivation behind this study was to create and approve a profound learning model that consequently recognizes threatening bosom sores in Asian advanced mammograms and to inspect the exhibition of the model by bosom thickness level. We have acquainted our own pretreatment technique with expand the exhibition of the model. Furthermore, we tried to lead a meta-examination to contrast and accessible investigations on AI-based bosom malignant growth recognition. Apparently, this is probably the greatest review done on Asians.&#x0D;

Calcium-alkali syndrome as a rare cause of severe hypercalcemia requiring dialysis in early twin gestation.

Hypercalcemia is rare in women of child-bearing age, and most cases are due to primary hyperparathyroidism. A 28-year-old woman, 14 weeks pregnant with dichorionic diamniotic twins, presented to hospital with vomiting, muscle cramps, and weakness. She had been taking calcium carbonate for gastric reflux and nausea from 5 weeks of gestation. Investigations revealed severe hypercalcemia, metabolic alkalosis, and renal injury. She was transferred to intensive care, receiving fluid resuscitation and subcutaneous calcitonin followed by dialysis. Investigations revealed suppressed PTH and PTH-related peptide, negative malignancy screening and low vitamin D level. Calcium and renal function quickly normalized and with cessation of calcium carbonate remained normal throughout the rest of pregnancy. Reports of calcium-alkali syndrome causing severe hypercalcemia are scarce, with most cases occurring later in gestation. This case represents a dramatic presentation requiring renal replacement therapy early in twin gestation.

Risk of malignancy following exposure to Epstein-Barr Virus associated infectious mononucleosis: A nationwide population-based cohort study.

Epstein-Barr virus (EBV) infection has been shown to contribute to oncogenesis and often causes acute clinical manifestation of Infectious mononucleosis (IM). It is unknown whether IM could increase the risk of subsequent malignancies. We aimed to evaluate the association of IM caused by EBV (EBV-IM) with overall and subtypes of malignancy in a large population-based cohort study. This study included 1,419,407 individuals born in Denmark between 1973 and 2016 identified from national registers and 23,057 individuals had IM. The 5,394 of them had confirmed EBV-IM and they were birth date- and sex- matched (1:63) to 1,396,350 non-IM individuals. Cox regression was used to examine the associations of EBV-IM with malignancy. Individuals with a history of confirmed EBV-IM had an 88% increased overall risk of malignancy (hazard ratio [HR]:1·88, 95% confidence interval [CI]: 1·42-2·49) and a five-fold risk of hematologic malignancies (HR 5·04, 95% CI: 3·07-8·25), compared to those without IM. Similar estimates were observed in the sibling analysis. The overall risk of malignancy was greater for EBV-IM with complications (HR 8·93, 95% CI: 3·35-23·81) than that for EBV-IM without complications (HR 1·35, 95% CI: 1·20-1·53). EBV-IM duration was related to increased risk of malignancy in a dose-response way. Notably, the significant elevated risk of overall malignancy was observed in the first two years after EBV-IM onset (rate ratio [RR] 4·44, 95% CI: 2·75-7·17) and attenuated thereafter. EBV-IM was associated with an increased risk in malignancy, particularly hematologic malignancies and in the first two years following IM exposure. Our findings suggest an important time-window for early screening of the EBV-attributed malignancy.

Phenotypes of adults with Fanconi anaemia.

The long-term outcomes of adults with Fanconi anaemia (FA) have improved with advances in haematopoietic stem cell transplantation (HSCT) and more detailed follow-up and screening guidelines. The phenotype of those who survive to adulthood may differ from the typical presentation of FA. We collected retrospective clinical data on adults with FA who received their care at the Cincinnati Children's Hospital Medical Center. In our final cohort of 52 patients, there were 29 females and 23 males, with median (range) age of 21 (18-37)years. Overall, 42 patients (81%) were alive at last follow-up. In all, 36 adults (69%) had undergone HSCT, including eight who had developed myelodysplasia or acute myeloid leukaemia. Eight (15%) developed squamous cell carcinoma. Endocrine complications were common, including hypothyroidism (42%), diabetes (10%), low body mass index (31%) and low bone mineral density (51%). The majority of adults with FA were employed (52%) or full-time students (13%). A significant subset of patients with FA are surviving into adulthood without requiring HSCT. Endocrine abnormalities and the development of solid tumours complicate adulthood. With improved survival outcomes following HSCT and more aggressive malignancy screening protocols, ongoing longitudinal analysis will be important to further characterise this cohort and the phenotype of untransplanted adults with FA.

Co-Occurrence of Sj/ITPR1 and NMDA Antibodies: A Case Report

Objective To highlight a case of concurrent anti-SJ/ITPR1 and anti-NMDA encephalitis. Background The anti-Sj/inositol 1,4,5-trisphosphate receptor (ITPR1) has been associated with autoimmune cerebellar ataxia and malignancy. Reports of patients with anti-Sj/ITPR1 describe isolated cerebellar ataxia as well as various manifestations throughout the central and peripheral nervous system. Anti-NMDA encephalitis presents with subacute decline, seizures, movement disorder, alterations in behavior and cognition, autonomic dysfunction, and central hypoventilation but is rarely associated with cerebellar ataxia in adults. Design/Methods NA. Results A 28-year-old female with no relevant medical history presented to an outside hospital with acute onset headache, diplopia, nystagmus, and vertigo. MRI and MRV were unremarkable. CSF analysis showed a lymphocytic pleocytosis. She was empirically treated with acyclovir, although viral serologies were negative. On initial assessment in our clinic, neurologic exam showed square wave jerks, ataxic eye movements, resting tremor, appendicular and gait ataxia. She progressively declined with gait instability, autonomic dysfunction, neuropsychiatric symptoms, and significant weight gain from compulsive hyperphagia. Her course was complicated by respiratory failure and tracheostomy was placed for mechanical ventilation. Malignancy screening with mammogram, CT, and full body PET was negative. Transvaginal ultrasound was nondiagnostic. Serum paraneoplastic autoantibody panel was negative. EEG showed severe generalized slowing. Repeat CSF studies were positive for anti-SJ/ITPR1 and anti-NMDA. She was treated with high-dose IV methylprednisolone, plasmapheresis, and rituximab. She has residual moderate/severe ataxia, but is now conversant, without trach dependence, and ambulates with assistance. Conclusions There is no definite current evidence for the pathogenicity of the ITPR1 antibody. Given the rarity of cerebellar ataxia in anti-NMDA encephalitis in adults, one could argue for a pathogenic role of ITPR1 in our case. No underlying malignancy was identified in our patient. We will continue surveillance since the clinical syndrome may precede tumor identification by several years.

De novo posttransplant membranous nephropathy following BNT162b2 mRNA COVID-19 vaccine in a kidney transplant recipient

To the Editor: Mass COVID-19 vaccination programs in kidney transplant patients (KTRs) have demonstrated an excellent safety profile, without increased rates of ensuing alloimmune events. However, autoimmune diseases may seldom occur after vaccination. We report the case of a KTR who presented de novo posttransplant membranous nephropathy (MN) following administration of COVID-19 vaccine. A 66-year-old patient underwent first kidney transplantation for autosomal-dominant polycystic-kidney-disease-related end-stage kidney disease in June 2020. His medical history included hypertension and left nephrectomy in 2016. After basiliximab induction, the maintenance regimen consisted of tacrolimus, mycophenolic acid, and steroids. His baseline creatinine level was 100 μmol/L, and he remained free of proteinuria during the posttransplant course. A 3-month protocol graft biopsy was unremarkable. Immunohistochemistry (IHC) C4d staining was negative (Figure 1A,B). The patient received the second injection of the BNT162b2 mRNA COVID-19 vaccine (Pfizer-BioNTech) in March 2021. Subsequent serology tests showed negative results, consistent with a blunted antibody response to the vaccine, as widely reported in KTRs. Eight weeks after the second vaccine dose, the patient underwent a 1-year protocol graft biopsy. Concurrent creatinine level and proteinuria were 120 μmol/L and negative, respectively. Light microscopy showed normal glomeruli and ruled out subclinical rejection(Figure 1D). However, C4d staining revealed the presence of granular staining along the glomerular basement membrane consistent with stage 1 MN (Figure 1E). Anti-phospholipase-A2-receptor (PLA2R) immunochemistry analysis showed strong positive staining on the glomerular capillary walls (Figure 1F). Circulating PLA2R antibodies were negative. Notably, IHC staining for PLA2R and C4d was retrospectively negative in the 3-month protocol graft biopsy (Figure 1E) and in the native kidney specimen (nephrectomy). The residual renal parenchyma on the native kidney contained non-sclerotic glomeruli. We retrospectively performed Jones staining which did not show irregularities of the glomerular basement membrane suggestive of membranous nephropathy. There was no available frozen sample on the renal parenchyma. Hence, the diagnosis of de novo posttransplant MN was firmly established. Screening for malignancy and infections remained negative, excluding secondary causes of MN. COVID-19 tests remained also negative (SARS-CoV-2 PCR was negative at MN diagnosis and 3 months after the diagnosis. Anti-Spike IgG were negative 1 and 2 months after the diagnosis). This is the first case of de novo posttransplant MN following mRNA COVID-19 vaccine. Interestingly, cases of de novo or relapsing MN after COVID-19 vaccine have recently been reported.1Aydin MF Yildiz A Oruc A et al.Relapse of primary membranous nephropathy after inactivated SARS-CoV-2 virus vaccination.Kidney Int. 2021; 100 (doi:10.1016/j.kint.2021.05.001): 464-465Abstract Full Text Full Text PDF PubMed Scopus (36) Google Scholar, 2Da Y Goh GH Khatri P A case of membranous nephropathy following Pfizer-BioNTech mRNA vaccination against COVID-19.Kidney Int. 2021; 100 (doi:10.1016/j.kint.2021.07.016): 938-939Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar, 3Gueguen L Loheac C Saidani N Khatchatourian L Membranous nephropathy following anti-COVID-19 mRNA vaccination.Kidney Int. 2021; S0085-2538 (doi:10.1016/j.kint.2021.08.006): 00752-00757Google Scholar Additionally, rare cases of MN (including one PLA2R+ case) have been described after COVID-19 infection.4Nasr SH Alexander MP Cornell LD et al.Kidney biopsy findings in patients with COVID-19, kidney injury, and proteinuria.Am J Kidney Dis. 2021; 77 (doi:10.1053/j.ajkd.2020.11.002): 465-468Abstract Full Text Full Text PDF PubMed Scopus (37) Google Scholar The temporality between COVID-19 vaccination and PLA2R+ MN in a patient without history of MN and in whom the etiological workup has remained otherwise negative, supports a causal link. However, we must acknowledge that a coincidental association could not be ruled out. Given the lack of proteinuria, no specific treatment was introduced. The subclinical presentation of MN may be related to the mitigating effects of maintenance immunosuppressive therapy. In conclusion, auto-immune reactivity and MN may occur after mRNA COVID-19 vaccine. This report will raise awareness of nephrologists for the need to closely monitor patients with primary MN, following COVID-19 vaccination, including KTRs. If proteinuria occurs after vaccination, a graft biopsy should be promptly performed to firmly establish the diagnosis. We would like to thank Ms. Roberta Vellve for the English language review. The authors of this manuscript have no conflicts of interest to disclose as described by the American Journal of Transplantation. Additional supporting information can be found online in the Supporting Information section at the end of this article. 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Role of PIVKA-II in screening for malignancies at a hepatobiliary and pancreatic disease center: A large-scale real-world study

Role of PIVKA-II in screening for malignancies at a hepatobiliary and pancreatic disease center: A large-scale real-world study

Risks of malignancies among patients with psoriasis: A cohort study of 360 patients.

Psoriasis is a systemic, chronic, immunologically-mediated disease affecting approximately 2%-4% of the worldwide population. It is well known that psoriasis is associated with several comorbidities such as metabolic syndrome, cardiovascular disease, and malignancy. Although meta-analyses and large prospective cohort studies have shown an increased risk of malignancies in patients with psoriasis worldwide, an association between psoriasis and malignancy onset has not yet been established in Japan. We retrospectively analyzed 360 patients with psoriasis at our hospital to evaluate the incidence and types of malignancies in these patients. The incidence rate of malignancy was 14.4% (52/360). Colorectal cancer was the most commonly associated malignancy (20.9%), followed by skin cancer (16.4%), gastric cancer (10.4%), and lung cancer (10.4%). The calculated age- and sex-standardized incidence ratio of malignancies was 1.235 (95% CI 0.952-1.601) which indicated that the malignancy rate was higher in patients with psoriasis than in the general population, although the difference was not statistically significant. Furthermore, the multivariate analysis revealed increased risk of malignancy in males (HR=3.15; 95% CI 1.381-7.187; p < 0.001), psoriasis onset at older age (HR=1.08; 95% CI 1.058-1.111; p < 0.01), and psoriatic erythroderma (HR=4.44; 95% CI 1.354-14.581; p < 0.05). We also observed that treatment with biological agents tends to reduce the risk of developing malignancy; however, no statistical significance was found. These results suggest that periodic screening for malignancy should be recommended in patients with psoriasis having these risk factors and in those with poorly controlled psoriatic inflammation.

DNA image cytometry ploidy analysis technique improves the detection rate of pleural effusion cytology.

To explore the clinical diagnostic value of DNA image cytometry (DNA-ICM) ploidy analysis in malignant pleural effusion cancer screening, this study analyzed the effect of exfoliated cell smears (ECSs), cell blocks (CBs), and immunochemistry. A total of 830 cases of pleural effusion were considered for the DNA-ICM ploidy analysis. The ECSs were centrifuged, the CBs were formed, and the DNA-ICM ploidy analysis was carried out in the diagnosis of malignant pleural effusion. Immunochemistry and biopsy was applied to differentiate between benign and malignant pleural effusion and to determine the source of the latter. The sensitivity and specificity differences between the three methods alone and in combination were compared. The sensitivity of the DNA-ICM, ECS, and CB methods was 96.28%, 94.93%, and 95.95%, respectively, and the specificity of each method was 86.52%, 87.08%, and 86.14%, respectively. The sensitivity and specificity of the combined diagnosis method were 99.32% and 75.09%, respectively. Among the 22 cases diagnosed as positive in the DNA-ICM ploidy analysis but negative in the ECS and CB analyses, four cases were diagnosed as positive by comprehensive clinical diagnosis. The sensitivity and specificity of DNA-ICM ploidy analysis are high; the positive detection rate of pleural fluid cytology is effectively increased, and the missed detection rate of cell pathologies is effectively reduced. The combination of the three methods significantly improves the specificity and sensitivity of the diagnosis of malignant pleural effusion, and immunochemistry with CBs can be used to accurately analyze the primary tumor site.

Clinical Characterization, Cancer Incidence and Long-Term Outcomes of Fanconi Anemia Patients : A Single Center Analysis of 97 Patients

Introduction: Fanconi Anemia (FA) is a rare inherited condition that may present with bone marrow failure (BMF), constitutional anomalies and high risk of developing cancer. A significant number of FA patients are seen in regions with higher rate of consanguinity and large family sizes, as in the Middle East. Large numbers of FA patients are referred to and treated in KFSHRC. We Studied the clinical characteristics and outcomes of adolescent and young adult (AYA) patients with a diagnosis of FA treated at our institution. Methods: A prospective study of Saudi patients with FA that presented to KFSHRC was obtained from an institutionally approved BMF database and hematopoietic stem cell transplant (HSCT) database. Cases were enrolled only if they were older than 14 years of age at the time of diagnosis or under the care of adult hematology with a clinical diagnosis of FA based on the presence of BMF and abnormal CB, or clinical phenotype with the presence of homozygous FA related genes. Family pedigrees were constructed based on history. In addition, patients presenting with BMF were enrolled onto an institutionally approved study investigating proteomic biomarkers and genomics of BMF syndromes. Consented peripheral blood samples and/or extracted DNA were subject to either panel based next generation sequencing (NGS) testing as part of the Saudi Genome Project or subjected to whole exome sequencing (WES) by external lab. Result: Patients and clinical features: a total of 97 patients (43 M, 54 F) in 60 families were identified and characterized. The median age of diagnosis was 14 years. The parental consanguinity among patients was 51%.The most frequent anomaly was short stature (45 patients, 65%), skin changes (11, 15%), urogenital abnormalities (21, 30%), dysmorphism/craniofacial abnormalities (25, 36%);A significant minority of patients (29%) had no other physical anomaly and presented with bone marrow failure or hematological malignancy. Diagnostic Tests: 68 patients (70%) had a positive CB analysis with diepoxybutane (DEB) or mitomycin-C (MMC) testing; in 5 patients (5%) DEB testing was borderline and 1 (1%) had a normal CBA but had a diagnostic phenotype/- family history and presence of a homozygous mutation in a known FA related gene. 33 patients had cytogenetic abnormalities and abnormalities involving chromosome 1 were the most frequent (50%). Mutation Analysis: Mutational analysis was available for 20 (21%) cases;a farther 15 cases had a presumed mutation.FANCA (23 patients/8 families); BRIP1 (2/2); FANCP (1/1); FANCD2 (5/2) FANCI(2/1);FANCG(2/2). Malignancies: 30 patients (31%) developed a malignancy either before or after diagnosis of FA: solid tumors in 8 (27%), AML and/or MDS in 17 (57%); 5 (16%) of these patients had both solid tumors and AML/MDS.The median age of cancer diagnosis was 27 years (range:7-48).Among patients developed solid tumor (46%) had head and neck SCC,(15%) had HCC,(8%) had lung cancer,(8%) had colon cancer , (8%) had cervical cancer and(8%) had esophageal cancer. Treatment outcomes: 74 out of 97 patients (76%) received HSCT. Actuarial survival of HSCT (n=56) and non-HSCT (n=11) patients was 75% and 58%, respectively. Treatment details were not available on 3 (3%). (11 %) Received FLU/CY /ATG.Low dose TBI was incorporated in 67%. Survival: Overall survival at 5 years was 37.8 %. The median overall survival Among non-transplanted patients was 28.8 months (95%CI 26.3-31.4) and it was 41.6 months (95% CI 28.1-55.03) among transplanted patients. (27%) died of solid tumor post-transplant, (22%) developed SCC and( 5%) developed HCC. CONCLUSION: We report long term outcomes of a large cohort of AYA patients with FA in Saudi Arabia.FANCA is the most frequent gene affected. FA patients have a significant risk of malignancies that reduces survival. Early detection and screening of malignancies is crucial. Further progress is required in improving outcomes in transplanted patients with reduced toxicity and less genotoxic therapies , including gene therapy. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Role of simple ultrasonography rules in preoperative prediction of malignancy of adnexal masses

Ovarian cancers account to malignancy in pre-menopausal women and post-menopausal women to about 24% and 60% respectively. This makes screening of ovarian cancers and adnexal masses an important part in diagnosis and management of these patients, as they also majorly form a reason for infertility in reproductive age group other than morbidity and mortality in all women. The limited availability of literature on the screening modalities and their definite role in diagnosing malignancy makes it difficult for gynecologists to diagnose the malignancy preoperatively. Ultrasonographic evaluation is considered as one of reliable and accurate diagnostic tool for the diagnosis of the ovarian cancers, so this study on utility of USG rules can help in preoperative screening of malignancy, and prediction of Malignancy helps in planning the management which avoid repeat surgery and morbidity.This study attempts to identify a method for early and accurate diagnosis to provide appropriate treatment for the said diagnosis.An observational comparative study was done and all gynecological patients attending IPD at SAMC and PGI with adnexal masses were evaluated for adnexal masses based on history, clinical examination, USG findings and routine preoperative investigations. Her pre operative diagnosis was co-related with histopathological report. After proper data collection, data was organized and analyzed with the application of Pearson chi-square test and associations were studied among the ultrasound findings and the final histopathological finding using p-value.Among the above said variables assessed by Pearson chi square test they were found to be significantly associated with each other having high p values. So we can predict the risk of malignancy early by using Simple Ultrasonographic Rules as a diagnostic tool and accordingly earlier diagnosis can be made possible by this, thereby preventing both morbidities and mortalities in patient presenting with adnexal masses.

Tics in the Small Intestine: An Unusual Case of Jejunal Diverticulitis

Small bowel (SB) diverticulosis is rare and usually has an asymptomatic presentation. Diverticular microperforations provoke inflammation and diverticulitis. Given the disease rarity, no current treatment guidelines exist. Little is known regarding malignancy-associated SB diverticulitis and screening with endoscopic procedures, capsule endoscopy, or radiographic imaging may be difficult or inadequate. In this case, we report on a 64-year-old woman who presented with abdominal pain secondary to jejunal diverticulitis, received antibiotics with radiographic disease resolution, and will undergo malignancy screening with balloon enteroscopy.

Screening for occult cancer after unprovoked venous thromboembolism: Assessing the current literature and future directions.

While significant evidence has established an increased rate of thrombosis in patients with cancer, the risk of occult malignancy in the setting of an unprovoked thrombosis is less clear. Despite continued interest in developing an effective screening system for occult malignancy following unprovoked venous thromboembolism (VTE), discrepancies in the literature and guideline recommendations leave providers uncertain whether to screen or perform further diagnostics for this patient population. Evidence suggests that screening for malignancy can detect cancer sooner in patients with unprovoked VTE, but there is a lack of high-quality evidence demonstrating improvements in survival who receive early detection. In the following manuscript, we summarize VTE in relation to cancer epidemiology and pathophysiology. Our literature review summarizes the spectrum of testing strategies for occult malignancy following unprovoked VTE, including biomarker detection methods and various imaging approaches. We evaluate the benefit of additional diagnostic strategies, review current guidelines on the issue, and provide guidance to the reader on the best practice for investigating undiagnosed malignancy in patients with unprovoked VTE.

S1772 Neurofibromatosis-Related Biliary Obstruction: Is There a Role in Screening for Biliary Malignancy?

S1772 Neurofibromatosis-Related Biliary Obstruction: Is There a Role in Screening for Biliary Malignancy?

S1841 The Curious Case of CA 19-9 in Mirizzi Syndrome

Introduction: Mirizzi Syndrome (MS) is a rare complication of gallstone disease, caused by an obstructing stone in the cystic duct or the gallbladder neck, leading to obstruction of the common hepatic duct. This case discusses the utility of EUS in improving diagnostic yield of MS and the importance of cancer screening in these patients. Case Description/Methods: A 44-year-old male with a history of gastritis presented with right upper quadrant (RUQ) abdominal pain, jaundice, and scleral icterus for one week. On exam, the patient was afebrile with mild RUQ abdominal tenderness. Labs showed a total bilirubin of 5.4 mg/dL, AST of 66 U/L, ALT of 228 U/L, and a total alkaline phosphatase of 159 U/L. Ultrasound demonstrated intra- and extrahepatic biliary dilation with suggestion of a shadowing stone within the common bile duct (CBD). The gallbladder wall was thickened with trace pericholecystic fluid. MRCP showed a 15 mm calculus presumed to be in the CBD, with a 16 mm CBD dilation. ERCP showed a filling defect in the midportion of the CBD, and a CBD stent was placed. Due to these findings, a CA 19-9 antigen was drawn, measuring 3038 U/mL. EUS was then performed, which visualized a cystic duct stone partially extending into the CBD– a finding consistent with MS. An enlarged lymph node was visualized in the porta hepatis region. FNA of the lymph node as well as CBD brushings from the ERCP were both negative for malignant cells. The patient was discharged and underwent a cholecystectomy two weeks later. Surgical findings were consistent with MS and a 20 mm stone was removed with the gallbladder. The intraoperative frozen section of the gallbladder was negative for malignant cells. (Figure) Discussion: Initial evaluation for MS should include an ultrasound or CT scan, followed by MRCP. The pooled sensitivity of MRCP for detecting CBD stones is around 87%. While MRCP is often used to diagnose MS, the anatomy may not be well visualized due to the proximity of the cystic duct to the CBD. EUS has a pooled sensitivity of 97% in detecting a CBD stone and can better visualize the biliary tract anatomy, aiding in diagnosis. Diagnosis of MS prior to surgery can be helpful in avoiding biliary tract injuries. MS evaluation should also include screening for malignancy, as MS has an association with gallbladder cancer. While elevated CA 19-9 levels are concerning for malignancy, they can also be seen in chronic benign biliary obstruction. It is important to obtain a CA 19-9 level when suspecting MS, both before and after stone removal.Figure 1.: A. MRI: A T2-weighted image showing a 15 mm filling defect (white arrow) within the cystic duct, partially extending into the common bile duct, consistent with an obstructing stone. Intrahepatic and extrahepatic biliary dilation is also seen. B. Endoscopic ultrasound: An ovoid, hyperechoic structure, measuring 11 mm x 15 mm, with shadowing suggestive of a gallstone at the level of the cystic duct and compression of the common bile duct. C. Endoscopic ultrasound: An irregularly contracted gallbladder (black arrow) with adjacent dilated common bile duct. D. Endoscopic ultrasound: Fine needle aspiration of an enlarged lymph node with well defined margins in the porta hepatis region, measuring 20 mm x 15 mm in maximal cross-sectional diameter. Color Doppler imaging was utilized prior to needle puncture to confirm a lack of significant vascular structures within the needle path.

Long-term risks of malignancy in myositis-specific antibody-positive idiopathic inflammatory myopathy.

To identify the long-term risks of malignancy in patients with myositis-specific antibody(MSA)-positive idiopathic inflammatory myopathy (IIM). This retrospective cohort study included 216 IIM patients (aged > 18years). Of these, 109 patients were positive for antibodies against anti-aminoacyl-tRNA synthetase (ARS), melanoma differentiation-associated gene 5 (MDA5), Mi-2, and transcriptional intermediary factor 1-γ (TIF1-γ). Age- and sex-matched standardized incidence ratios (SIRs) were calculated to compare the incidence of malignancy in IIM patients to that of the general population. The malignancy-free survival rate was estimated by Kaplan-Meier methods. Our study included 109 patients, 64 with anti-ARS, 28 with anti-MDA5, 9 with anti-Mi-2, and 8 with anti-TIF1-γ antibodies; 16 and 5 patients were diagnosed with a malignancy within 3years before or after and within 4 to 10years after their IIM onset, respectively. The SIRs of malignancy within 3years of IIM onset for each MSA were calculated as follows: 2.12 (95% confidence interval [CI] 0.98-4.35) for anti-ARS, 1.87 (95% CI 0.48-4.97) for anti-MDA5, 2.11 (95% CI 0.11-13.69) for anti-Mi-2, and 9.30 (95% CI 2.98-25.58) for anti-TIF1-γ antibodies. The SIR at 4 to 10years after IIM onset in patients with an anti-MDA5 antibody was 4.62 (95% CI 1.19-14.72); other MSAs did not have statistically significant SIRs. The long-term SIR of malignancy in patients with an anti-MDA5 antibody was 4.62 (95% CI 1.19-14.72), and the SIR among patients with an anti-TIF1-γ antibody within 3years of IIM onset was 9.30 (95% CI 2.98-25.58). Screening for malignancies in patients with late phase of IIM and an anti-MDA5 antibody may be beneficial.

Pediatric Germline Predisposition to Myeloid Neoplasms.

Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children. This discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings-transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone marrow failure syndromes. We review recent findings related to the biochemical mechanisms that predispose to malignant transformation in each condition. Key genetic discoveries such as novel mutations, degrees of penetrance, principles of the two-hit hypothesis, and co-occurrence of multiple mutations are shared. Clinical pearls, such as information regarding epidemiology, natural history, or prognosis, are also discussed. Germline mutations predisposing to pediatric myeloid neoplasms are frequent, but underrecognized. They hold major clinical implications regarding prognosis, treatment strategies, and screening for other malignancies. Further research is warranted to better characterize each of these conditions, as well as identify additional novel germline pathogenic variants of interest.

New generation biomarkers for the detection of prostate cancer

Malignant growth is the most dangerous illness with the most elevated mortality rate. Early identification of malignant growth can be fundamental in effective treatment. One of the most promising early symptomatic tools for tracking infection spread and subsequent disease treatment is biomarker-based malignant growth screening. Prostate cancer (PCa) is the most widely recognized reason for death in men and is the following driving reason for death from the disease worldwide. Prostate-specific antigen (PSA) is a fundamental biomarker for diagnosing PCa. Despite signs against its utilization in massive populace tests, PSA concentrates most on PCa biomarkers. This biomarker does remain an essential determinant in the therapy of prostate malignant growth due to its different structures and its inclusion in rehashed plans with other biomarkers. This paper depicts the most recent advances in electrochemical biosensors intended to identify different malignant growth biomarkers utilizing further sign transmission and biological detection strategies. In treating malignant prostate growth, disclosing its specific structures and inclusion in revised schemes with other biomarkers are crucial indicators.