scholarly journals PATH-64. PROSPECTIVE, BLINDED PLASMA BASED ANALYSIS FOR DIAGNOSIS OF NEWLY DIAGNOSED GLIOMA

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi157-vi158
Author(s):  
Ian Lee ◽  
Lisa Scarpace ◽  
Rachel Hunt ◽  
Kevin Nelson ◽  
Darshana Patil ◽  
...  
Keyword(s):  
High Grade Glioma ◽  
Molecular Testing ◽  
Low Grade ◽  
Newly Diagnosed ◽  
Dna And Rna ◽  
Blinded Study ◽  
Treatment Naïve ◽  
Droplet Pcr ◽  
History Of ◽  
Normal Controls

Abstract INTRODUCTION In patients with newly diagnosed intracerebral lesions, gliomas are often suspected. However, other conditions such as multiple sclerosis, abscess or lymphoma are possible, as well. Furthermore, biopsy can be challenging due to eloquent and/or deep location within the brain. In this prospective, blinded study, analysis of plasma isolated cell-free DNA and exosome mRNA and miRNA from newly diagnosed glioma patients and from cancer-free volunteers was used to predict disease. METHODS Plasma was drawn from 52 patients with newly diagnosed gliomas (28 high grade glioma (HGG), 10 low grade (LGG)) and 14 patients without documented history of cancer and recent MRI brain which was negative for brain tumor. High quality DNA and RNA was isolated and sequenced using Next Generation Sequencing and Digital Droplet PCR was used for detection and verification of trace molecular artifacts. Multianalyte processing yielded data that was harmonized and interpreted through an Artificial Intelligence based algorithm to assess for possible glioma and to assign grade in a blinded fashion. EGFRvIII, TP53 and IDH1 mutations were also analyzed and compared to molecular testing from tumor specimens. RESULTS 66% (25 of 38) of glioma patients were correctly diagnosed as having a malignancy. 43% of HGG and 60% of LGG patients were correctly graded. Of the 14 normal controls, 6 were concluded to be cancer-free. IDH1, EGFRvIII, and TP53 mutation had concordance of 64% (21/33), 82% (14/17) and 36% (5/14), respectively. CONCLUSIONS Analysis of plasma cell free tumor derived DNA and RNA was relatively sensitive for detecting glioma in treatment naïve patients. In contrast, this analysis was not specific in ruling out malignancy in the normal control patients. Given this profile, in patients with newly diagnosed intracerebral lesions suspicious for glioma, this may be a useful screening test to determine the need for more invasive testing, i.e. biopsy/resection.

Higher Expression of miR-182 in Cytology Specimens of High-Grade Urothelial Cell Carcinoma: A Potential Diagnostic Marker

2015 ◽  
Vol 59 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Shuanzeng Wei ◽  
Zhanyong Bing ◽  
Yuan Yao ◽  
Stephen R. Master ◽  
Prabodh Gupta
Keyword(s):  
Cell Carcinoma ◽  
Noncoding Rna ◽  
Urothelial Cell ◽  
Low Grade ◽  
High Grade ◽  
Urothelial Cell Carcinoma ◽  
Rna Molecules ◽  
History Of ◽  
Potential Alternative ◽  
Normal Controls

Objective: MicroRNAs (miRs) are short noncoding RNA molecules that posttranscriptionally modulate protein expression. There are distinct miR alterations characterizing urothelial cell carcinoma (UCC) of the urinary bladder. Study Design: In this study, we investigate the possibility of using miR as a noninvasive marker in the screening of UCC. The total RNA was extracted from 75 cytology specimens including bladder or renal washings and voided urines. Cases comprise UCC (21 high grade and 6 low grade), 25 normal controls and 23 cases with a history of UCC but negative at the time of testing (negative with a positive history). The expressions of miR-96, miR-182, miR-183, miR-200c, miR-21, miR-141 and miR-30b were determined using quantitative TaqMan real-time PCR. Results and Conclusion: This study shows that the level of miR-182 is higher in cytology specimens from high-grade UCC patients as compared to normal controls. Measuring miR-182 may provide a potential alternative or adjunct approach for screening high-grade UCC.

scholarly journals An IDH1-mutated primary gliosarcoma: case report

2017 ◽  
Vol 126 (2) ◽  
pp. 476-480 ◽  
Author(s):  
Jason K. Hsieh ◽  
Christopher S. Hong ◽  
Sunil Manjila ◽  
Mark L. Cohen ◽  
Simon Lo ◽  
...  
Keyword(s):  
Isocitrate Dehydrogenase ◽  
Brain Mri ◽  
High Grade Glioma ◽  
En Bloc Resection ◽  
Bloc Resection ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
En Bloc ◽  
History Of ◽  
Isocitrate Dehydrogenase Mutation

The authors present the case of a primary gliosarcoma with an isocitrate dehydrogenase-1 (IDH1) mutation. A 75-year-old man presented with a 3-day history of multiple focal seizures and was found on MRI to have a 2.2-cm left parietal enhancing mass lesion. Brain MRI for tremor performed 8 years prior to this presentation was normal. En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. Gliosarcoma is a rare variant of glioblastoma that arises most frequently as a primary tumor, and has equal or worse survival and an increased propensity for extracranial metastases compared with other Grade 4 gliomas. In contrast, isocitrate dehydrogenase-1 and -2 mutations are associated with low-grade gliomas with increased survival and less commonly with glioblastoma. To the authors' knowledge, there has been only 1 other published report of a primary gliosarcoma carrying an isocitrate dehydrogenase mutation. This rare genetic-histological combination highlights potential differences between glioblastoma and gliosarcoma and may warrant additional study.

scholarly journals Early Bronchus-Associated Lymphoid Tissue Lymphoma Diagnosed with Immunoglobulin Heavy Chain Molecular Testing

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Pen Li ◽  
Lawrence Cheung ◽  
Brian Chiu
Keyword(s):  
B Cell ◽  
Heavy Chain ◽  
Lymphoid Tissue ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Immunoglobulin Heavy Chain ◽  
Molecular Testing ◽  
Low Grade ◽  
History Of ◽  
Balt Lymphoma

When extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT), a low grade B-cell lymphoma, arises in the lung it is referred to as bronchus-associated lymphoid tissue (BALT) lymphoma. We describe a patient with a history of Sjögren’s syndrome and rheumatoid arthritis with dyspnea and imaging consistent with lymphoid interstitial pneumonia (LIP). However, while histology and immunohistochemistry lacked definitive features of a lymphoma, immunoglobulin heavy chain (IgH) polymerase chain reaction testing demonstrated B-cell monoclonality, consistent with an early BALT lymphoma.

scholarly journals HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii352-iii352
Author(s):  
Keita Terashima ◽  
Masahiro Sugawa ◽  
Kenichi Sakamoto ◽  
Chikako Kiyotani ◽  
Tomoo Osumi ◽  
...  
Keyword(s):  
High Grade Glioma ◽  
Endoscopic Biopsy ◽  
Braf V600e ◽  
Small Cells ◽  
Molecular Testing ◽  
Histopathological Diagnosis ◽  
High Grade ◽  
Ki 67 ◽  
History Of ◽  
Mri Study

Abstract CASE A 18-month-old boy presented with approximately 2 months history of progressive left hemiparesis and left exotropia. MRI study showed a 3–4 cm T1-iso, T2-high tumor at right thalamus to midbrain with little contrast enhancement. The patient underwent endoscopic biopsy of the tumor, which showed relatively dense proliferation of small cells with round nuclei, mitosis of the tumor cell, but no necrosis. Immunohistochemical showed positive stain of GFAP and Olig2. Ki-67 was 34%. The histopathological diagnosis was compatible with high grade glioma. Chemotherapy with vincristine, cyclophosphamide, cisplatin and etoposide was initiated. Molecular testing of the tumor revealed H3F3A K27M and BRAF V600E double mutations in DNA from frozen tumor tissue. DISCUSSION The concurrent mutation of H3F3A K27M and BRAF V600E in pediatric glioma is very rare, but there are several cases previously reported in literature. Interestingly those cases are heterogenous in age, location, histopathological subtypes and clinical outcome.

scholarly journals Thyroid and Sex Hormones Ratios in Predicting Breast Cancer Risk

2021 ◽  
Author(s):  
Kasuni Akalanka ◽  
Sagarika Ekanayake ◽  
Kamani Samarasinghe
Keyword(s):  
Breast Cancer ◽  
Sex Hormones ◽  
Significant Risk ◽  
Serum Testosterone ◽  
Subclinical Hyperthyroidism ◽  
Newly Diagnosed ◽  
Healthy Women ◽  
History Of ◽  
Normal Controls ◽  
Tsh Levels

Abstract Purpose: The study intended to analyze the incidence of thyroid related diseases and to assess thyroid to sex hormones ratios of breast cancer (BC) patients Methods: TSH, T3, T4, Estrogen, progesterone and testosterone levels of newly diagnosed BC patients (n=155) aged 30 to 75 years and age-matched normal controls (n=75) were analyzed. Data on history of thyroid related diseases were collected from an interviewer administered questionnaire. Thyroid/sex hormone ratios were analyzed and compared against healthy women. Results: History of thyroid related diseases was significantly higher (p<0.05) in BC patients compared to controls. Patients (10%) with history of thyroid related diseases were excluded from the study. Subclinical hyperthyroidism was identified among 14% of the remaining BC patients and was the only dysfunction (7%) among healthy women. Significantly higher (p<0.05) mean T3 and T4 values, lower TSH levels and non-significant levels of estrogen and progesterone were observed in patients with BC when compared to healthy. Serum Testosterone of BC patients were significantly low (p<0.05). Considering the thyroid to sex hormones ratios among postmenopausal women, T3/testosterone, T4/testosterone, T3/estrogen, T4/ estrogen, ratios were significantly different in the two groups and the highest significance was found with T3/testosterone. Cutoff values studied from receiver operative characteristic curves indicated that a woman having T3/testosterone above 7.47 showed 12.5 times odds (p=0.000) of being diagnosed with BC. Conclusion: Incidence of thyroid related diseases are higher among BC patients and elevation of T3/testosterone ratio indicated a significant risk of BC. However, a study involving a larger number of participants could confirm the above.

Temozolomide after Radiotherapy for Newly Diagnosed High-grade Glioma and Unfavorable Low-grade Glioma in Children

2005 ◽  
Vol 76 (3) ◽  
pp. 313-319 ◽  
Author(s):  
Alberto Broniscer ◽  
Murali Chintagumpala ◽  
Maryam Fouladi ◽  
Matthew J. Krasin ◽  
Mehmet Kocak ◽  
...  
Keyword(s):  
High Grade Glioma ◽  
Low Grade Glioma ◽  
Low Grade ◽  
High Grade ◽  
Newly Diagnosed

Primary acquired melanosis (PAM) without atypia/WHO low-grade conjunctival melanocytic intraepithelial lesion over areas of oculodermal melanocytosis

2020 ◽  
Vol 13 (10) ◽  
pp. e236741
Author(s):  
Bashar M Bata ◽  
Sachin M Salvi ◽  
Hardeep Singh Mudhar
Keyword(s):  
Bulbar Conjunctiva ◽  
Low Grade ◽  
Primary Acquired Melanosis ◽  
Conjunctival Biopsy ◽  
History Of ◽  
Intraepithelial Lesion ◽  
The Relationship ◽  
Oculodermal Melanocytosis ◽  
Substantia Propria ◽  
New Onset

An elderly white man with a history of left oculodermal melanocytosis presented with new onset brown pigmentation of the left bulbar and inferior tarsal conjunctiva. The bulbar conjunctival pigmentation was at the level of the conjunctival epithelium and was overlying areas of typical slate-grey scleral pigmentation characteristic of oculodermal melanocytosis. Both areas of new pigmentation were biopsied. The bulbar conjunctiva revealed primary acquired melanosis (PAM) without atypia with increased melanin production and the tarsal conjunctival biopsy showed PAM without atypia sine pigmentio overlying areas of substantia propria spindle-shaped heavily pigmented melanocytes of oculodermal melanocytosis. The case report examines the relationship between the epithelial and substantia propria melanocytes and correlates the findings with what is known about this association from the dermatopathology literature.

scholarly journals Assessing the utility and attitudes toward molecular testing in neuro-oncology: a survey of the Society for Neuro-Oncology members

2021 ◽  
Author(s):  
Shannon Fortin Ensign ◽  
Maya Hrachova ◽  
Susan Chang ◽  
Maciej M Mrugala
Keyword(s):  
Online Survey ◽  
Clinical Decision Making ◽  
Unmet Needs ◽  
Practice Patterns ◽  
Response Rate ◽  
Clinical Decision ◽  
Molecular Testing ◽  
Newly Diagnosed ◽  
Tumor Boards ◽  
Oncology Practice

Abstract Background Molecular testing (MT) is utilized in neuro-oncology with increasing frequency. The aim of this study was to determine clinical practice patterns to acquire this information, interpret and utilize MT for patient care, and identify unmet needs in the practical clinical application of MT. Methods We conducted a voluntary online survey of providers within the Society for Neuro-Oncology (SNO) membership database between March and April 2019. Results We received 152 responses out of 2022 SNO members (7.5% of membership). 88.8% of respondents routinely order MT for newly diagnosed gliomas. Of those who do not, testing is preferentially performed in younger patients or those with midline tumors. 82.8% use MT in recurrent gliomas. Other common indications included: metastatic tumors, meningioma, and medulloblastoma. Many providers utilize more than one resource (36.0%), most frequently using in-house (41.8%) over commercially available panels. 78.1% used the results for clinical decision-making, with BRAF, EGFR, ALK, and H3K27 mutations most commonly directing treatment decisions. Approximately, half (48.5%) of respondents have molecular tumor boards at their institutions. Respondents would like to see SNO-endorsed guidelines on MT, organized lists of targeted agents available for specific mutations, a database of targetable mutations and clinical trials, and more educational programs on MT. Conclusion This survey was marked by several limitations including response rate and interpretation of MT. Among respondents, there is routine use of MT in Neuro-Oncology, however, there remains a need for increased guidance for providers to effectively incorporate the expanding genomic data resulting from MT into daily Neuro-Oncology practice.

scholarly journals No evidence of false-negative Plasmodium falciparum rapid diagnostic results in Monrovia, Liberia

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Mandella King ◽  
Alexander E. George ◽  
Pau Cisteró ◽  
Christine K. Tarr-Attia ◽  
Beatriz Arregui ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
False Negative ◽  
Malaria Diagnosis ◽  
Rapid Diagnostic Tests ◽  
Molecular Testing ◽  
False Negatives ◽  
Gene Deletions ◽  
History Of ◽  
Catholic Hospital ◽  
Or History

Abstract Background Malaria diagnosis in many malaria-endemic countries relies mainly on the use of rapid diagnostic tests (RDTs). The majority of commercial RDTs used in Africa detect the Plasmodium falciparum histidine-rich protein 2 (PfHRP2). pfhrp2/3 gene deletions can therefore lead to false-negative RDT results. This study aimed to evaluate the frequency of PCR-confirmed, false-negative P. falciparum RDT results in Monrovia, Liberia. Methods PfHRP2-based RDT (Paracheck Pf®) and microscopy results from 1038 individuals with fever or history of fever (n = 951) and pregnant women at first antenatal care (ANC) visit (n = 87) enrolled in the Saint Joseph’s Catholic Hospital (Monrovia) from March to July 2019 were used to assess the frequency of false-negative RDT results. True–false negatives were confirmed by detecting the presence of P. falciparum DNA by quantitative PCR in samples from individuals with discrepant RDT and microscopy results. Samples that were positive by 18S rRNA qPCR but negative by PfHRP2-RDT were subjected to multiplex qPCR assay for detection of pfhrp2 and pfhrp3. Results One-hundred and eighty-six (19.6%) and 200 (21.0%) of the 951 febrile participants had a P. falciparum-positive result by RDT and microscopy, respectively. Positivity rate increased with age and the reporting of joint pain, chills and shivers, vomiting and weakness, and decreased with the presence of coughs and nausea. The positivity rate at first ANC visit was 5.7% (n = 5) and 8% (n = 7) by RDT and microscopy, respectively. Out of 207 Plasmodium infections detected by microscopy, 22 (11%) were negative by RDT. qPCR confirmed absence of P. falciparum DNA in the 16 RDT-negative but microscopy-positive samples which were available for molecular testing. Among the 14 samples that were positive by qPCR but negative by RDT and microscopy, 3 only amplified pfldh, and among these 3 all were positive for pfhrp2 and pfhrp3. Conclusion There is no qPCR-confirmed evidence of false-negative RDT results due to pfhrp2/pfhrp3 deletions in this study conducted in Monrovia (Liberia). This indicates that these deletions are not expected to affect the performance of PfHRP2-based RDTs for the diagnosis of malaria in Liberia. Nevertheless, active surveillance for the emergence of PfHRP2 deletions is required.

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