Anaplastic lymphoma kinase (ALK) gene re-arrangements are present in approximately 4% of patients with non-small cell lung cancer (NSCLC), mostly in non-smokers with adenocarcinoma. V-KI-RAS2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations are more common in smokers. These molecular lesions were usually described as are mutually exclusive. We herein describe a rare case of co-existence of ALK and KRAS abnormalities in adenocarcinoma tumor with massive local growth (disproportionality of clinical symptoms) and rapid central nervous system (CNS) metastases spread. T3N1M0 stage tumor (size: 10×12×13 cm) in upper lobe of the right lung was diagnosed in a 56-year-old Caucasian male smoker. Adenocarcinoma of solid predominant was surgically resected with chest wall reconstruction. One month after surgery, CNS metastases were diagnosed and subsequently treated with radiotherapy. We noted an 8-month overall survival from tumor resection. In the case of comorbidity of disorders in the ALK (uncertain prognostic significance) and KRAS gene (described as unfavorable prognostic factor), these abnormalities may ultimately decide the course of the disease in the form of brain metastases.
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Front Immunol
January 2025
Department of Pathology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hosipital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China.
In this article, we report the first case of a 61-year-old woman who was diagnosed with both nodules and cystic lesions in her lungs. The lung nodules were diagnosed as ALK-positive histiocytosis (APH) carrying an gene fusion, which microscopically displayed a mixed morphology of foamy cells, spindle cells, and Touton's giant cells. Immunohistochemistry showed expression of CD163, CD68, and ALK, while fluorescence hybridization (FISH) with second-generation sequencing (NGS) showed the ALK gene fusion with the FLCN gene variant.
View Article and Find Full Text PDFIntroduction: We present a case of a 9-year-old girl diagnosed with a myeloproliferative neoplasm (MPN) harboring both monosomy 7 and an ALK/ROS1 fusion gene.
Case Presentation: The neoplasm was resistant to conventional AML chemotherapy and required hematopoietic cell transplantation (HCT) to achieve remission.
Discussion: MPNs with monosomy 7 and ALK/ROS1 fusions occur in a wide age range of children and adults, and require HCT for long-term remission.
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, People's Hospital of Zhengzhou University/People's Hospital of Henan University, Zhengzhou 450043, China.
To investigate the expression pattern of pan-TRK protein in colorectal cancers with NTRK gene fusion and mismatch repair deficient (dMMR) and to analyze its molecular pathological characteristics. A total of 117 dMMR colorectal cancers diagnosed in the Department of Pathology of Henan Provincial People's Hospital, Zhengzhou, China from 2020 to 2023 were collected. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and DNA/RNA-based next-generation sequencing (NGS) were used to detect pan-TRK protein expression and fusion partner genes in tumors, and to further explore the correlation between pan-TRK staining patterns and partner genes.
View Article and Find Full Text PDFCureus
December 2024
Clinical Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Background Lung cancer is the most frequent cause of cancer-related deaths and the most common type of cancer globally. It is generally classified into two main histologic subtypes: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). NSCLC is the most prevalent type and is enriched with genetic and molecular diversity.
View Article and Find Full Text PDFWorld J Surg Oncol
January 2025
Department of Thoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
Objective: With the wide use of CT scan in clinical practice, more lung cancer was diagnosed in resectable stage. Pathological examination and genetic testing have become a routine procedure for lung adenocarcinoma following radical resection. This study analyzed special pathological components and gene mutations to explore their relationship with clinical characteristics and overall survival.
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