Background: The safety of using a cutting needle when performing a core-needle biopsy is of major concern, in particular for small lung tumors or tumors near the hilum.
Purpose: To investigate the usefulness of CT-guided fine needle aspiration biopsy (FNAB) of the lung in obtaining tumor tissue for epidermal growth factor receptor (EGFR) mutation analysis in advanced lung cancer patients.
Material And Methods: Forty-three patients with stage IIIB-IV lung cancer were enrolled. In all patients, CT-guided FNAB was performed using an 18-gauge or 20-gauge Chiba aspiration needle for histology diagnosis and EGFR mutation analysis. Complications associated with CT-guided FNAB were observed, and the specimen mutational assessments were recorded.
Results: The obtained tumor samples ranged from 0.5-1.5 cm in length and were adequate for histological and DNA analyses in all patients. No patient had a pneumothorax or hemoptysis. Minor needle tract bleeding appeared in eight patients. Mutation analysis was satisfactorily demonstrated in 23 mutations and 20 non-mutations. Ten and 13 mutations were identified by 18-gauge and 20-gauge needle biopsies, respectively. EFGR mutations, including 12 cases of EGFR exon 19 deletion and 11 cases of exon 21 point mutation, were present in 21 patients with adenocarcinomas, one with squamous cell carcinoma, and one with undifferentiated carcinoma.
Conclusion: CT-guided FNAB is a feasible and safe technique for obtaining lung tumor tissues for EGFR gene mutation analysis.
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http://dx.doi.org/10.1258/ar.2011.110150 | DOI Listing |
Braz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFMol Oncol
January 2025
Analysis of Circulating Tumor Cells Lab, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, Greece.
Plasma cell-free DNA (cfDNA) analysis to track estrogen receptor 1 (ESR1) mutations is highly beneficial for the identification of tumor molecular dynamics and the improvement of personalized treatments for patients with metastatic breast cancer (MBC). Plasma-cfDNA is, up to now, the most frequent liquid biopsy analyte used to evaluate ESR1 mutational status. Circulating tumor cell (CTC) enumeration and molecular characterization analysis provides important clinical information in patients with MBC.
View Article and Find Full Text PDFClin Epigenetics
January 2025
Department of Gastrointestinal Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Background: The primary objective of this study was to examine whether ARID1A mutations confer a fitness advantage to gastric cancer from an immunological perspective, along with elucidating the underlying mechanism. Additionally, we aimed to identify the clinical potential of combining epigenetic inhibitors with immune checkpoint inhibitors to improve the efficacy of immunotherapy for gastric cancer.
Methods: The correlation between ARID1A gene expression and gastric cancer patient survival was analyzed using the GEO dataset GSE62254.
World J Surg Oncol
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring Road West, Fengtai District, Beijing, 100070, China.
Background: This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling.
Methods: The study involved a family with 15 members spanning three generations. A 31-year-old patient (II-4) was diagnosed with a left parotid gland tumor and a right carotid body tumor, while both the father and elder sister had right carotid body tumors, and the third sister had bilateral carotid body tumors.
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