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Background: Despite advances in chemotherapy and radiotherapy in recent decades, the prognosis for small cell lung cancer (SCLC) patients is still poor. Targeted therapies in SCLC must be applied systemically to target not only the primary tumor but also metastases. The phosphatidylinositol 3-kinase (PI3K)/AKT pathways play a key regulatory function in the survival, proliferation, energy metabolism and cellular architecture advantages of malignant cells. The phosphatidylinositol 3-kinase catalytic α (PIK3CA) gene, which encodes the p110α catalytic subunit, plays a key role in the activation of AKT downstream signaling and mammary tumor progression. More than 75% of PIK3CA mutations are clustered in the helical (exon 9) and catalytic domains (exon 20). There have been very few studies reporting the PIK3CA mutations status of patients with SCLC who have undergone surgical treatment in mainland China.
Objectives: The aim of the study was to investigate the PIK3CA mutation in SCLC.
Material And Methods: Reverse transcription polymerase chain reaction (RT-PCR) and direct sequencing technology was used to detect the PIK3CA mutation in 14 cases of retrospectively collected SCLC patients who underwent surgical treatment at Zhejiang Cancer Hospital, Hangzhou, PRC, between 2002 and 2010.
Results: The research revealed no mutations in exons 9 and 20 of the PIK3CA gene. A nucleotide alteration of A1634C (E545A) of exon 9 turned out to be a pseudogene-positive, because the mutation disappeared when near-duplicate detection was employed.
Conclusions: The incidence of PIK3CA mutation is low in SCLC patients, and the pseudogene-positive alteration of A1634C is prone to occur in exon 9 of PIK3CA mutations in human cancers.
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http://dx.doi.org/10.17219/acem/25928 | DOI Listing |
Cancer Genet
August 2025
National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, India. Electronic address:
Cancer is a complex and heterogeneous disease characterized by the accumulation of genetic and epigenetic alterations that drive uncontrolled cellular proliferation and survival. This review provides a comprehensive overview of key cancer driver genes, including oncogenes such as KRAS and PIK3CA, as well as tumor suppressor genes like TP53, PTEN, and CDKN2A, highlighting their molecular mechanisms and roles across various types of cancer. Leveraging insights from large-scale cancer genome initiatives and whole-genome sequencing, we examine the landscape of somatic mutations and their association with hallmark cancer pathways, including cell cycle regulation, apoptosis, metabolic reprogramming, and immune evasion.
View Article and Find Full Text PDFJ Neurosurg
September 2025
1Department of Neurosurgery, University Hospital Carl Gustav Carus, TU Dresden, Germany.
Objective: The aim of this study was to investigate the relationship between the clinical and radiological characteristics of olfactory groove meningiomas (OGMs) and their molecular profiles.
Methods: The authors performed targeted next-generation and whole-genome sequencing in 123 OGM samples collected from 4 international institutions, focusing on known meningioma-driver genes. They compared the molecular data with the clinical and radiographic features of the tumors.
Front Oncol
August 2025
Department of Medical Oncology, Catalan Institute of Oncology, Dr. Josep Trueta University Hospital, Girona, Spain.
Inflammatory breast cancer (IBC) is a rare and aggressive breast cancer type, accounting for 5-7% of breast cancer-related deaths, and its bilateral involvement is exceedingly uncommon. We report a case of metachronous bilateral IBC in a 50-year-old premenopausal woman with Charcot-Marie-Tooth disease, offering novel insight into the diagnostic, therapeutic, and molecular challenges of this condition. The patient initially presented with acute right breast erythema, skin thickening, and , followed by contralateral breast involvement with similar symptoms.
View Article and Find Full Text PDFBreast cancer is a heterogeneous disease with numerous histological subtypes. Invasive lobular cancer (ILC) is the most common special subtype, accounting for 10-15% of all breast cancers. The pathognomonic feature of ILC is the loss of E-cadherin (CDH1), which leads to a unique single-file growth pattern of discohesive cells.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
"Primary neuroendocrine breast carcinoma (NEBC) is an underdiagnosed subtype of breast cancer, which includes small cell (SCNEC) and large cell neuroendocrine carcinomas (LCNEC). Accurate diagnosis remains challenging given their low incidence; misclassification as invasive breast carcinoma of no special type (IBC-NST), invasive ductal carcinoma (IDC), or a metastatic neuroendocrine carcinoma may occur. Cases with any component of adenocarcinoma and well-differentiated neuroendocrine tumors were excluded.
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