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Introduction: Maximising alternative sample types for genomics in advanced lung cancer is important because bronchoscopic samples may sometimes be insufficient for this purpose. Further, the clinical applications of comprehensive molecular analysis such as whole genome sequencing (WGS) are rapidly developing. Diff-Quik cytology smears from EBUS TBNA is an alternative source of DNA, but its feasibility for WGS has not been previously demonstrated.
Methods: Diff-Quik smears were collected along with research cell pellets.
Results: Tumour content of smears were compared to research cell pellets from 42 patients, which showed good correlation (Spearman correlation 0.85, P < 0.0001). A subset of eight smears underwent WGS, which presented similar mutation profiles to WGS of the matched cell pellet. DNA yield was predicted using a regression equation of the smears cytology features, which correctly predicted DNA yield > 1500 ng in 7 out of 8 smears.
Conclusions: WGS of commonly collected Diff-Quik slides is feasible and their DNA yield can be predicted.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444633 | PMC |
http://dx.doi.org/10.1007/s00408-023-00631-9 | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
G3 (Bethesda)
September 2025
INRAE, UR629 URFM, Ecologie des Forêts Méditerranéennes, Site Agroparc, Domaine Saint Paul, F-84914 Avignon Cedex 9, France.
Symphonia globulifera (Clusiaceae) has emerged as a model organism in tropical forest ecology and evolution due to its significant ecological role and complex biogeographical history. Originating from Africa, this species has independently colonized Caribbean, Central and South America three times, becoming a key component of tropical ecosystems across these regions. Despite the ecological importance of S.
View Article and Find Full Text PDFFront Immunol
September 2025
Guangxi Key Laboratory of AIDS Prevention and Treatment & School of Public Health, Guangxi Medical University, Nanning, Guangxi, China.
Background: People living with HIV(PLWH) are a high-risk population for cancer. We conducted a pioneering study on the gut microbiota of PLWH with various types of cancer, revealing key microbiota.
Methods: We collected stool samples from 54 PLWH who have cancer (PLWH-C), including Kaposi's sarcoma (KS, n=7), lymphoma (L, n=22), lung cancer (LC, n=12), and colorectal cancer (CRC, n=13), 55 PLWH who do not have cancer (PLWH-NC), and 49 people living without HIV (Ctrl).
Front Immunol
September 2025
Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of fever, rash, and arthritis, typically beginning in childhood.
Objective: To demonstrate the role of a missense mutation, c.
J Healthc Sci Humanit
January 2024
Assistant Professor & Clinical Coordinator, Health Informatics Program, School of Health Professions, State University of New York Downstate Health Sciences University, 450 Clarkson Avenue, MSC 94, Brooklyn, NY 11203, (718) 270-7738, Fax: (718) 270-7739 Email:
COVID-19 variants continue to infect thousands of people even though the end of the pandemic was announced on May 11, 2023. Nextstrain CoVariants (CoVariants) genomic databases provide detailed information about more than 31 variants of COVID-19 viruses that have been identified through genomic sequencing, showing the mutations they carry. Mutated viruses may yield a negative result for a gene target using a PCR test that has a positive COVID-19 test result.
View Article and Find Full Text PDF