DNA‐chip‐based molecular testing as a clue for the diagnosis of tinea: A case series

2021 ◽  
Author(s):  
Sascha Ständer ◽  
Linh Ha ◽  
Khalaf Kridin ◽  
Katja Bieber ◽  
Detlef Zillikens ◽  
...  
Keyword(s):  
Case Series ◽  
Dna Chip ◽  
Molecular Testing

scholarly journals EXPERIENCE WITH USING RAPID MOLECULAR TESTING IN DIAGNOSING PULMONARY AND EXTRA-PULMONARY PEDIATRIC TUBERCULOSIS IN A NON-ENDEMIC SETTING - A RETROSPECTIVE CASE SERIES

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e44-e45 ◽  
Author(s):  
Hana Mijovic ◽  
Yossef Al-Nasser ◽  
Ghada Al-Rawahi ◽  
Ashley Roberts
Keyword(s):  
Case Series ◽  
Pericardial Fluid ◽  
Diagnosis And Treatment ◽  
Molecular Testing ◽  
Retrospective Case ◽  
Detection Rates ◽  
Endemic Setting ◽  
Number Of Patients ◽  
Small Patient Population ◽  
Extra Pulmonary

Abstract BACKGROUND Tuberculosis (TB) is a rare but potentially devastating infection among Canadian children. Accurate diagnosis and initiation of treatment are limited in part by the fact that it takes 2–6 weeks for culture results to be confirmed. Xpert MTB/RIF (Xpert) is a rapid, automated molecular assay that has been validated for diagnosing pulmonary but not extra-pulmonary TB in children. OBJECTIVES This was a retrospective study of children investigated for active TB at our facility in order to: 1.Outline demographic characteristics and describe clinical presentations of children diagnosed with active TB. 2.Compare performance of molecular testing (Xpert) to stain and Mycobacterium tuberculosis culture on pulmonary and extra-pulmonary specimens. DESIGN/METHODS We conducted a retrospective chart review of all paediatric patients investigated for active TB at our facility with stain, culture and molecular (Xpert) testing between January 2015 and August 2017. Due to a small number of patients, our data analysis was limited to narrative summary and descriptive statistics. RESULTS A total of 10 children were diagnosed with active TB, including 3 cases of pulmonary, 4 extra-pulmonary and 3 disseminated disease. Age range at diagnosis was 2 months to 16 years, with 3 children younger than 1 year. Most children contracted TB while travelling to and/or being exposed to an index case from endemic areas, including East Asia/Western Pacific (5), South Asia (2) and Africa (1). All children were HIV negative. Time from symptom onset to TB diagnosis and treatment ranged from approximately 4 days to 5 months. Multi-drug resistant TB was confirmed in 1 child. Sadly, 1 child passed away from TB related complications. AFB stain was positive on at least one specimen in 4/10 cases, cultures were positive in 8/10 and molecular testing (Xpert) in 7/10 cases. Time to positive cultures ranged from 10 to 35 days, with an average of 19 days. All cases positive on Xpert were also culture positive. Xpert test diagnosed TB in 5/6 of extra-pulmonary specimens submitted, including pericardial fluid, lymph node tissues and cerebrospinal fluid. CONCLUSION Many paediatric TB patients at our facility are children who have traveled to/have contacts from TB endemic regions, emphasizing the need for obtaining thorough exposure and travel history. Culture and molecular testing demonstrated similar TB detection rates, albeit based on a small patient population. While cultures remain the most reliable diagnostic method, molecular testing may facilitate rapid diagnosis and treatment of pulmonary and extra-pulmonary paediatric TB in a non-endemic setting.

scholarly journals The Tail Wagging the Dog (or the Challenges Faced When the Financing of Medicine Gets Ahead of the Science of Medicine)

2018 ◽  
Vol 56 (10) ◽  
Author(s):  
David W. Kimberlin
Keyword(s):  
Case Series ◽  
Molecular Testing ◽  
Labor Costs ◽  
Specific Test ◽  
Potential Harm ◽  
Viral Culture ◽  
Diagnostic Decision ◽  
Simplex Virus ◽  
Diagnostic Decision Making ◽  
Made In

ABSTRACTIn their article in this issue of theJournal of Clinical Microbiology, S. R. Dominguez et al. (J Clin Microbiol 56:e00632-18, 2018,https://doi.org/10.1128/JCM.00632-18) describe the performance of PCR detection of herpes simplex virus (HSV) DNA versus viral culture in skin and mucosal samples from 7 neonates with HSV disease. This is a significant contribution to our understanding of the optimal diagnostic approach in babies being evaluated for neonatal HSV disease. Many diagnostic laboratories already have made the change to molecular diagnostics for skin and mucosal swab testing, however, in large part due to the labor costs associated with viral cultures. Thus, important studies such as this one are being conducted to support a decision that has already been made in many locations on mostly economic grounds. This small case series supports the decision to use molecular testing for samples from skin and mucosal sites, but larger studies are needed to more fully define the performance characteristics of PCR in this population. Since a false-positive result would commit a baby to months of management that would be unnecessary and have potential harm, it is critical to base diagnostic decision making on data that support the use of a specific test.

Improved prognostic precision in uveal melanoma through a combined score of clinical stage and molecular prognostication

2021 ◽  
Author(s):  
Andrew W. Stacey ◽  
Vaidehi S. Dedania ◽  
Miguel Materin ◽  
Hakan Demirci
Keyword(s):  
Uveal Melanoma ◽  
Risk Score ◽  
Clinical Stage ◽  
Case Series ◽  
Clinical Staging ◽  
Molecular Testing ◽  
Total Risk ◽  
Retrospective Case ◽  
Simple Method ◽  
Kaplan Meier

Introduction: Prognosis of uveal melanoma (UM) is assessed using clinical staging or molecular testing. Two modalities often used for prognostication are the American Joint Committee on Cancer (AJCC) staging and a tumor gene expression profile (GEP), the outcomes of which are often discordant. This paper discusses a Total Risk Score created to combine the discordant information from both sources. Methods: A retrospective case series was conducted of all patients presenting with UM over six years to two referral centers. Each tumor was classified using the AJCC and the GEP. A Total Risk Score was calculated for each patient using results from both AJCC and GEP. Kaplan-Meier analysis of metastasis free-survival was used to compare groups. Results: A total of 294 patients were included in the study. Kaplan-Meier estimates showed significant curve separation between individual AJCC and GEP risk groups. The combined Total Risk Score provided an accurate estimate of prognosis that incorporated results from both AJCC and GEP. Conclusions: Clinical staging and molecular prognostication of UM can be discordant. There is important information provided by each system that is not provided by the other. The Total Risk Score provides a simple method to combine information from both the AJCC stage and the GEP class in order to provide patients and care teams with a more complete understanding of metastatic risk.

Practical Approach to the Pathologic Diagnosis of Mixed Filamentous Fungal Infections in Burn Wounds: A Case Series

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S133-S133
Author(s):  
A D Pyden ◽  
I Solomon ◽  
A Laga Canales
Keyword(s):  
Opportunistic Infections ◽  
Fungal Infections ◽  
Case Series ◽  
Fungal Species ◽  
Molecular Testing ◽  
Burn Wounds ◽  
Tissue Sections ◽  
True Infection ◽  
Extensive Burn

Abstract Introduction/Objective Opportunistic infections by fungi are a major source of morbidity and mortality in patients suffering from extensive burn wounds. Here we review a series of cases of infections by multiple fungi in burn wounds as diagnosed by histopathology and outline the key features for the pathologist to include in the report. Methods/Case Report Biopsies from patients with more than one fungal species identified in the laboratory in a concurrent culture or by PCR were included in this study. Three cases are presented with multiple fungi identified. Each case had yeast and at least one different hyaline mold species present on pathology; two cases additionally had mucormycetes present, with angioinvasion in one case. All organisms requiried microbiologic cultures and variably required molecular testing for full identification. Results (if a Case Study enter NA) N/A Conclusion Pathologists should be aware of the possibility of infection by multiple fungal species in burn wounds. Fungal morphology in tissue sections should allow for detection and distinction of mucormyctes and other hyaline molds. Histopathologic correlation with culture and/or PCR results is essential to distinguish potential contaminants from true infection.

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.

A novel HMGA2-YAP1 fusion gene in a patient with aggressive angiomyxoma.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e22514-e22514
Author(s):  
Brandon Dasilva ◽  
Mee-Young Lee ◽  
Daniel C. Ramirez ◽  
Robert G. Maki
Keyword(s):  
Fusion Gene ◽  
Case Series ◽  
Chromosome 12 ◽  
High Recurrence Rate ◽  
Molecular Testing ◽  
Aggressive Angiomyxoma ◽  
Tumor Type ◽  
Preoperative Radiation ◽  
Curative Surgery ◽  
Show Evidence

e22514 Background: Aggressive angiomyxoma (AA) is a rare neoplasm typically found in the perineum or pelvis, often with a gelatinous consistency and a highly vascular nature that leads to surgical complications and a high recurrence rate following what otherwise are attempts at curative surgery. For patients with recurrent disease in whom surgery is not indicated or potentially mutilating, estrogen antagonism has been successfully employed. HMGA2 on chromosome 12 has been known to be translocated in this tumor for over a decade, but no partners have been identified for HMGA2 in this tumor type. Methods: A 44-year-old woman with a perineal mass underwent attempted resection, but this was halted due to extensive blood loss after removal of a portion of what proved to be an AA. She was referred for systemic treatment to the sarcoma clinic. A Foundation Medicine Heme test was conducted on the patient's tumor. Results: The patient was treated with leuprolide and anastrozole with a RECIST 1.1 partial response and loss of vascularity consistent with a radiological response. She underwent preoperative radiation therapy and a follow up operation with negative margins. The resection specimen showed evidence of a very good result from systemic therapy and radiation. Molecular testing demonstrated a HMGA2-YAP1 fusion, implying a t(11;12)(q22.1;q14.3) translocation. Conclusions: This is the first demonstration of a partner for the HMGA2 gene in AA. A variety of other translocations have been found in AA, some of which involve chromosome 12. Thus, as with benign lesions such as lipomas, myolipomas, osteochondrolipomas, leiomyomas, pleomorphic adenomas, as well as a smaller number of overt malignancies, there appears to be promiscuity in HMGA2 (or other translocation) fusion products that lead to development of AA. Not all patients with AA respond to estrogen antagonism, or will show evidence of benefit before getting worse, as shown in case series and reports of AA patients. Assessing HMGA2 partners and their outcomes may better stratify future patients with AA with respect to possible benefit of estrogen antagonism.

CBIO-18. TP53-MUTANT OLIGODENDROGLIOMA: A SINGLE INSTITUTION CASE SERIES

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi30-vi31
Author(s):  
Mason Webb ◽  
Sani Kizilbash ◽  
Thomas Kollmeyer ◽  
Robert Jenkins ◽  
Sarah Sung ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Tp53 Mutation ◽  
Case Series ◽  
Molecular Testing ◽  
Diffuse Glioma ◽  
Who Grade ◽  
Tp53 Mutations ◽  
Grade Ii ◽  
Who Grade Iii ◽  
Grade Iii

Abstract TP53 mutations are frequent in IDH-mutant astrocytomas but unusual in oligodendroglioma and the clinical significance of TP53 mutations in oligodendroglioma are not well characterized. We reviewed genetically defined oligodendroglioma (i.e., IDH-mutant, whole-arm 1p/19q-codeleted diffuse glioma) cases that were molecularly profiled (2017-2020) at our institution and identified 7 cases with TP53 mutation (9%; n=76). Molecular testing was performed using targeted neuro-oncology NGS panel (50-gene mutation and/or 187-gene mutation/rearrangement) and OncoScan™ microarray. Four (of 7) patients were female. Median age at diagnosis was 43 years (range, 23-63). Most common presenting symptom was seizures (3 of 7). All tumors were supratentorial. Histologically, 3 tumors were WHO grade II and 4 were WHO grade III. Two (of 3) patients with a WHO grade II tumor underwent biopsy and radiotherapy at diagnosis followed by temozolomide at recurrence (progression at 67 and 157 months after diagnosis; overall survival of 124 and 201 months). Three (of 4) patients with a WHO grade III tumor were diagnosed within the last two years and are currently progression-free after standard therapy. Molecularly, in addition to TP53 mutation(s), all cases had an IDH1 and TERT promoter mutation as well as other gene mutation(s) including FUBP1 (n=5), SETD2 (n=4), PIK3R1 (n=4), PIK3CA (n=3), NF1 (n=3) and CIC (n=3). In 3 (of 7) cases, the mutational profile with high mutation count enriched for C >T/G >A transitions was highly suggestive of a hypermutation phenotype (2 cases were recurrent tumors treated with temozolomide; a recurrent and a treatment-naïve tumor had mismatch repair gene mutation). Five (of 7) cases, including the 3 hypermutant cases, lacked functional TP53 (1 case with 2 mutations, 2 cases with 1 mutation plus loss of other copy, 2 cases with 1 mutation plus copy neutral loss-of-heterozygosity). TP53 mutations are uncommon in oligodendroglioma and appear enriched in hypermutant tumors.

scholarly journals 2381. Epidemiology of Clostridium difficile Infection in Patients Receiving Interleukin-2 Therapy

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S822-S822
Author(s):  
Aldon Li ◽  
Nga Nguyen
Keyword(s):  
Clostridium Difficile ◽  
Clostridium Difficile Infection ◽  
Laboratory Testing ◽  
Interleukin 2 ◽  
Case Series ◽  
Mortality Data ◽  
Molecular Testing ◽  
Retrospective Case ◽  
Bowel Movements ◽  
The Difference

Abstract Background Clostridium difficile infection (CDI) has been associated with interleukin-2 (IL2) therapy, possibly leading to unnecessary testing and treatment of colonized patients receiving IL2 therapy. Since the debut of IL2 therapy for renal cell carcinoma (RCC) and metastatic melanoma (MM), only one study with 6 patients has shown a relationship between CDI and IL2 treatment, and no mortality data were reported. Because of the rising concern for appropriate testing and treatment of CDI, further studies looking at the correlation between IL2 therapy and CDI are needed. This study aims to describe CDI rates among a larger cohort of IL2 treated patients and to include mortality data. Methods Retrospective case series. A case of CDI was defined as (1) Bowel movements >3 or stool output >600 mL WITH, (2) positive laboratory test, either through toxin detection via ELISA prior to 2010 or molecular testing via PCR after 2010. Results During the study period from 2008 to 2015, 359 patients with RCC or MM receiving IL2 treatment were evaluated with a total of 294 patients undergoing Clostridium difficile testing (CDT). Median age was 52 (range 24–69), 33% female. An average IL2 dose of 27 million international units (MIU) was given in this population. 15% (45/294) had a positive CDT, but 7% (21/294) were found to have CDI. All patients with CDI had antibiotic exposure within the last 30 days of diagnosis. Of the patients who developed CDI, 24% (5/21) had a previous CDI episode within the last 90 days. None of the patients developed megacolon. Developing CDI lead to an all-cause mortality of 24% (5/21). Conclusion The results of this study show a lower CDI rate (7%, 21/294) than previously reported in IL2-treated patients (66%, 4/6), but this difference is likely due to the difference in population size. In addition to CDI rate, this study adds information about mortality in IL2-treated patients with CDI, which was not previously described in the literature. Applying a clinical criterion to laboratory testing results revealed a difference in laboratory testing positivity and actual infection rates, suggesting 8% of this population maybe colonized with Clostridium difficile, providing further evidence for Antibiotic Stewardship Committees to put in place local guidelines to avoid indiscriminate CDT in this population. Disclosures All authors: No reported disclosures.

scholarly journals Universal molecular screening does not effectively detect Lynch syndrome in clinical practice

2017 ◽  
Vol 10 (4) ◽  
pp. 361-371 ◽  
Author(s):  
Beatrice Brennan ◽  
Christine T. Hemmings ◽  
Ian Clark ◽  
Desmond Yip ◽  
Mitali Fadia ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Germ Line ◽  
Familial Cancer ◽  
Case Series ◽  
Molecular Testing ◽  
Molecular Screening ◽  
Mmr Genes ◽  
Case Series Study ◽  
The Mean ◽  
Cancer Clinic

Background: Lynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center. Methods: We conducted a prospective, consecutive case series study of universal IHC testing on cases of resected CRC from September 2004–December 2013. Referred cases with abnormal IHC results that attended a familial cancer clinic were assessed according to modified Bethesda criteria (until 2009) or molecular criteria (from 2009). Results: 1612 individuals underwent resection for CRC in the study period and had MMR testing by IHC. Of these, 274 cases (16.9%) exhibited loss of expression of MMR genes. The mean age at CRC diagnosis was 68.1 years (± standard deviation 12.7) and the mean age of those with an IHC abnormality was 71.6 (± 11.8). A total of 82 (29.9%) patients with an abnormal result were seen in a subspecialty familial cancer clinic. Patients aged under 50 ( p = 0.009) and those with loss of MSH6 staining ( p = 0.027) were more likely to be referred and to attend. After germ-line sequencing, 0.6% (10 of 82) were identified as having a clinically significant abnormality. A further eight probands with pathogenic germ-line mutations were identified from other referrals to the service over the same time period. Conclusions: While technically accurate, the yield of ‘universal’ IHC in detecting new Lynch probands is limited by real-world factors that reduce referrals and genetic testing. We propose an alternative approach for universal, incident case detection of Lynch syndrome with ‘one-stop’ MMR testing and sequencing.

scholarly journals A case series on the role of 18F-FDG PET/CT-guided biopsy of osseous metastases

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Michael Farrell ◽  
Gina Hyun ◽  
Michael P. Goold ◽  
Pavel Krapiva
Keyword(s):  
Case Series ◽  
Final Diagnosis ◽  
Secondary Malignancy ◽  
Molecular Testing ◽  
Primary Malignancy ◽  
Ct Guided ◽  
Osseous Metastases ◽  
Guided Biopsy ◽  
Pet Ct ◽  
Ct Guided Biopsy

Abstract Purpose This case series explores the utility of positron emission tomography (PET)/computed tomography (CT) guidance for biopsy of 18F-fludeoxyglucose (FDG)-avid osseous lesions that are inconspicuous on CT. Methods PET/CT-guided core biopsies were performed in four patients with suspected malignancies given 18F-FDG-avid osseous lesions that were inconspicuous on CT alone. The final diagnosis for each patient was determined by histopathological and molecular testing. Results PET/CT-guided biopsy yielded accurate sampling via core needle biopsy (CNB) with histopathological confirmation of osseous metastases of the primary malignancy as opposed to a secondary malignancy in three patients and ruled-out metastatic spread in the fourth. Conclusion PET/CT-guided biopsy of hypermetabolic osseous lesions that are inconspicuous on CT alone is an effective and safe diagnostic tool in patients with suspected malignancy.

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