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A case of pulmonary ALK-positive histiocytosis combined with Birt-Hogg-Dubé syndrome carrying an gene fusion: a case report and literature review.
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 PDFCHROMOPHOBE HEPATOCELLULAR CARCINOMA: DIAGNOSTIC CHALLENGES.
Arq Bras Cir Dig
January 2025
Mongi Slim Hospital, Department of Pathology - Marsa, Tuni, Tunísia.
Background: Hepatocellular carcinoma (HCC) encompasses rare variants like chromophobe hepatocellular carcinoma (CHCC) characterized by distinct histological features and molecular profiles.
Case Report: A 56-year-old male with chronic hepatitis C, presenting pain in the right hypochondrium. Imaging revealed a solitary liver lesion, subsequently resected and histologically diagnosed as HCC.
Impact of EML4-ALK Variants and TP53 Status on the Efficacy of ALK Inhibitors in Patients With Non-small Cell Lung Cancer.
Thorac Cancer
January 2025
Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Background: The clinical implications of different EML4-ALK fusion variants remain poorly elucidated in the era of second-generation ALK inhibitors.
Methods: This was a retrospective cohort study, wherein patients diagnosed with locally advanced or metastatic non-small cell lung cancer harboring EML4-ALK fusion were stratified into two cohorts based on their first-line treatment: Cohort 1 received alectinib, while Cohort 2 received crizotinib. Statistical analysis was employed to investigate the impact of different EML4-ALK variants and TP53 status on the efficacy of first-line ALK-TKIs.
Characteristics of the immune microenvironment and their clinical significance in lung adenocarcinoma patients with different ALK fusion variants.
Transl Lung Cancer Res
December 2024
Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Background: The tumor immune microenvironment of anaplastic lymphoma kinase (ALK)-rearranged lung adenocarcinoma (LUAD) stratified by ALK fusion variants is poorly pictured. Hence, in this study, we aim to explore the immune heterogeneity of ALK LUAD across different ALK fusion variants and further investigate their significance on clinical prognosis.
Methods: A retrospective analysis was conducted on ALK LUAD patients (N=68).
EML4-ALK: Update on ALK Inhibitors.
Int J Mol Sci
January 2025
Centro di Riferimento Oncologico di Aviano (CRO), Department of Medical Oncology, IRCCS, 33081 Aviano, Italy.
Since the discovery of the first-generation ALK inhibitor, many other tyrosine kinase inhibitors have been demonstrated to be effective in the first line or further lines of treatment in patients with advanced non-small cell lung cancer with EMLA4-ALK translocation. This review traces the main milestones in the treatment of ALK-positive metastatic patients and the survival outcomes in the first-line and second-line settings with different ALK inhibitors. It presents the two options available for first-line treatment at the present time: sequencing different ALK inhibitors versus using the most potent inhibitor in front-line treatment.
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