scholarly journals Clinical and molecular characterization of a multi-institutional cohort of pediatric spinal cord low-grade gliomas

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Sydney T Grob ◽  
Liana Nobre ◽  
Kristen R Campbell ◽  
Kurtis D Davies ◽  
Scott Ryall ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Clinical Information ◽  
Complete Fusion ◽  
Low Grade ◽  
Chain Reaction ◽  
Braf Mutations ◽  
Genetic Aberrations ◽  
Low Grade Gliomas ◽  
Polymerase Chain

Abstract Background The mitogen-activated protein kinases/extracelluar signal-regulated kinases pathway is involved in cell growth and proliferation, and mutations in BRAF have made it an oncogene of interest in pediatric cancer. Previous studies found that BRAF mutations as well as KIAA1549–BRAF fusions are common in intracranial low-grade gliomas (LGGs). Fewer studies have tested for the presence of these genetic changes in spinal LGGs. The aim of this study was to better understand the prevalence of BRAF and other genetic aberrations in spinal LGG. Methods We retrospectively analyzed 46 spinal gliomas from patients aged 1–25 years from Children’s Hospital Colorado (CHCO) and The Hospital for Sick Children (SickKids). CHCO utilized a 67-gene panel that assessed BRAF and additionally screened for other possible genetic abnormalities of interest. At SickKids, BRAFV600E was assessed by droplet digital polymerase chain reaction and immunohistochemistry. BRAF fusions were detected by fluorescence in situ hybridization, reverse transcription polymerase chain reaction, or NanoString platform. Data were correlated with clinical information. Results Of 31 samples with complete fusion analysis, 13 (42%) harbored KIAA1549–BRAF. All 13 (100%) patients with confirmed KIAA1549–BRAF survived the entirety of the study period (median [interquartile range] follow-up time: 47 months [27–85 months]) and 15 (83.3%) fusion-negative patients survived (follow-up time: 37.5 months [19.8–69.5 months]). Other mutations of interest were also identified in this patient cohort including BRAFV600E, PTPN11, H3F3A, TP53, FGFR1, and CDKN2A deletion. Conclusion KIAA1549–BRAF was seen in higher frequency than BRAFV600E or other genetic aberrations in pediatric spinal LGGs and experienced lower death rates compared to KIAA1549–BRAF negative patients, although this was not statistically significant.

scholarly journals LGG-34. CLINICAL AND MOLECULAR CHARACTERIZATION OF A MULTI-INSTITUTIONAL COHORT OF PEDIATRIC SPINAL CORD LOW-GRADE GLIOMAS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii373-iii373
Author(s):  
Sydney Grob ◽  
Lianna Nobre ◽  
Kurtis Davies ◽  
Scott Ryall ◽  
Dara Aisner ◽  
...  
Keyword(s):  
Clinical Information ◽  
Low Grade ◽  
Braf Mutations ◽  
Genetic Aberrations ◽  
Low Grade Gliomas ◽  
Patient Cohort ◽  
Cdkn2a Deletion ◽  
Sick Children ◽  
Fusion Analysis ◽  
Cell Growth And Proliferation

Abstract BACKGROUND The MAPK/ERK pathway is involved in cell growth and proliferation, and mutations in the BRAF paralog of this pathway have made it an oncogene of interest in pediatric cancer. Previous studies have identified that BRAF mutations as well as BRAF-KIAA1549 fusions are common in intracranial low-grade gliomas (LGGs). Fewer studies have tested for the presence of these genetic aberrations in spinal LGGs. The aim of this study was to better understand the prevalence of BRAF and other genetic aberrations in spinal LGG. METHODS We analyzed 46 spinal LGGs from children age 1–25 years from two institutions, Children’s Hospital Colorado (CHCO) and The Hospital for Sick Children (Sick Kids) for the presence of BRAF fusions or mutations. Data was correlated with clinical information. A 67 gene panel additionally screened for other possible genetic abnormalities of interest in the patient cohort from CHCO. In the Sick Kids cohort, BRAFV600E was tested for by ddPCR and IHC while BRAF fusions where detected by FISH, RT-PCR or Nanostring platform. RESULTS Of the 31 patient samples who underwent fusion analysis, 13 (42%) harbored the BRAF-KIAA1549 fusion. Overall survival (OS) for patients confirmed positive for BRAF-KIAA1549 was 100% compared to 76% for fusion negative patients. Other mutations of interest were also identified in this patient cohort including BRAFV600E, STK11, PTPN11, H3F3A, APC, TP53, PIK3CA (polymorphism), FGFR1, and CDKN2A deletion. CONCLUSION BRAF-KIAA1549 was seen in higher frequency than BRAFV600E or other genetic aberrations in pediatric spinal LGGs and trends towards longer OS although not statistically significant.

Case Report: Progressive Dysphonia and Dysphagia due to Laryngeal Leishmaniasis

2021 ◽  
Author(s):  
Laura Renard ◽  
Adrien Lemaignen ◽  
Guillaume Desoubeaux ◽  
David Bakhos
Keyword(s):  
Polymerase Chain Reaction ◽  
Weight Loss ◽  
Case Report ◽  
Amphotericin B ◽  
Laryngeal Cancer ◽  
Complete Resolution ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Histopathology Examination

Laryngeal leishmaniasis is an unusual form of the disease. We report the case of a patient who consulted for dysphonia and dysphagia in a context of asthenia and weight loss. The patient had lesions that were suggestive of laryngeal cancer but were revealed to be leishmaniasis by histopathology examination and polymerase chain reaction. Treatment with amphotericin B and miltefosine permitted complete resolution of the lesions and no recurrence during the 18-month follow-up period.

scholarly journals All advanced stage non-Hodgkin's lymphomas with a polymerase chain reaction amplifiable breakpoint of bcl-2 have residual cells containing the bcl-2 rearrangement at evaluation and after treatment

Blood ◽  
1991 ◽  
Vol 78 (12) ◽  
pp. 3275-3280 ◽  
Author(s):  
JG Gribben ◽  
As Freedman ◽  
SD Woo ◽  
K Blake ◽  
RS Shu ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Salvage Chemotherapy ◽  
Pcr Analysis ◽  
Low Grade ◽  
Advanced Stage ◽  
Chain Reaction ◽  
Additional Information ◽  
Minimal Disease ◽  
Polymerase Chain ◽  
Hodgkin's Lymphomas

Abstract Polymerase chain reaction (PCR) of bcl-2 provides an extremely sensitive method to detect minimal disease in approximately 50% of patients with non-Hodgkin's lymphomas (NHL). In an attempt to determine the clinical usefulness of this technique, we examined the bone marrow (BM) of 152 patients with advanced-stage NHL at the time of evaluation and after induction or salvage chemotherapy before autologous BM transplantation. The BM proved to be an accessible and reproducible tissue source to determine PCR positivity because all of the 102 patients examined had the same PCR-amplifiable breakpoint in their BM and lymph node. At the time of evaluation, PCR analysis in advanced- stage NHL patients added little additional information to morphologic analysis because each technique identified BM infiltration in approximately 70% of patients. PCR was significantly more useful in determining BM infiltration after induction or salvage therapy. At that time, approximately 50% of patients had morphologically normal BM, whereas PCR analysis remained positive in 100% of those with an amplifiable breakpoint. These observations were confirmed in a clinical trial attempting to induce remission in previously untreated low-grade advanced-stage NHL patients. In this series, PCR was positive in all patients after treatment although the BM was histologically uninvolved in 50% of cases, showing that conventional therapy did not eradicate bcl-2-positive cells.

scholarly journals Quantitative polymerase chain reaction in paucibacillary leprosy diagnosis: A follow-up study

2019 ◽  
Vol 13 (3) ◽  
pp. e0007147 ◽  
Author(s):  
Raquel R. Barbieri ◽  
Fernanda S. N. Manta ◽  
Suelen J. M. Moreira ◽  
Anna M. Sales ◽  
José A. C. Nery ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Quantitative Polymerase Chain Reaction ◽  
Chain Reaction ◽  
Follow Up Study ◽  
Polymerase Chain

Detection of Subclinical Systemic Disease in Primary CNS Lymphoma by Polymerase Chain Reaction of the Rearranged Immunoglobulin Heavy-Chain Genes

2006 ◽  
Vol 24 (29) ◽  
pp. 4754-4757 ◽  
Author(s):  
Kristoph Jahnke ◽  
Michael Hummel ◽  
Agnieszka Korfel ◽  
Thomas Burmeister ◽  
Philipp Kiewe ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Polymerase Chain Reaction ◽  
Systemic Disease ◽  
Primary Cns Lymphoma ◽  
Cns Lymphoma ◽  
Chain Reaction ◽  
Blood Samples ◽  
Pcr Products ◽  
Polymerase Chain

Purpose To search for subclinical systemic disease in bone marrow and peripheral blood in patients with primary CNS lymphoma (PCNSL) to elucidate whether extracerebral relapse may represent a sequel of initial occult systemic disease rather than true extracerebral spread. Patients and Methods Bone marrow and peripheral-blood specimens of 24 PCNSL patients were examined using polymerase chain reaction (PCR) for analysis of clonally rearranged immunoglobulin heavy-chain (IgH) genes. Results Identical dominant PCR products were found in bone marrow aspirates, blood samples, and tumor biopsy specimens of two patients, indicating that the same tumor cell population is present in the CNS and in extracerebral sites. Follow-up IgH PCR performed in one of these patients in complete remission 24 months after diagnosis yielded a persistent monoclonal product in the blood. An oligoclonal IgH rearrangement pattern was found in the tumor specimen of two other patients, whereas bone marrow and blood samples demonstrated the same dominant PCR products. Follow-up PCR showed a persistent monoclonal amplificate in blood in one of these patients 27 months after diagnosis. Conclusion It could be demonstrated for the first time that subclinical systemic disease can be present in PCNSL patients at initial diagnosis. Our findings may have an impact on the understanding of PCNSL pathogenesis and the extent of staging and treatment.

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