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Multisystem ALK-positive histiocytosis: a multi-case study and literature review.
Orphanet J Rare Dis
March 2023
Department of Pathology, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu, 610041, Sichuan Province, China.
Article Synopsis
- Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a rare histiocytic disease first identified in infants, but cases in older children and adults have been recognized, though much about it remains unclear.
- Four cases of multisystem ALK-positive histiocytosis without blood involvement were documented, including adult patients showing varying responses to ALK inhibitors, and a young child with a severe case who did not respond well to treatment.
- The study highlights the need for further research on treatment options and prognosis, noting that adults may respond better to ALK inhibitors than young children with central nervous system issues.
Clinicopathologic and Genomic Characterization of Inflammatory Myofibroblastic Tumors of the Head and Neck: Highlighting a Novel Fusion and Potential Diagnostic Pitfall.
Am J Surg Pathol
December 2021
Departments of Pathology and Laboratory Medicine.
Inflammatory myofibroblastic tumor (IMT) is a distinctive fibroblastic and myofibroblastic spindle cell neoplasm with an accompanying inflammatory cell infiltrate and frequent receptor tyrosine kinase activation at the molecular level. The tumor may recur and rarely metastasizes. IMT is rare in the head and neck region, and limited information is available about its clinicopathologic and molecular characteristics in these subsites.
View Article and Find Full Text PDFLocalized ALK-positive histiocytosis in a Chinese woman: report of a case in the lung with a novel EML4-ALK rearrangement.
Virchows Arch
December 2021
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Pathology, Peking University Cancer Hospital and Institute, No. 52 Fucheng Road, Haidian District, Beijing, 100142, China.
ALK-positive histiocytosis (APH) is a newly defined entity with specific histological features and a highly recurrent KIF5B-ALK gene fusion. APH is characterized by clonal proliferation of histiocytes and can present as either systemic or localized. It was first described in infants and then expanded to older children and adults.
View Article and Find Full Text PDFAtypical juvenile histiocytosis with novel KIF5B-ALK gene fusion mimicking subglottic hemangioma.
Int J Pediatr Otorhinolaryngol
November 2019
Department of Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address:
Juvenile Xanthograuloma (JXG) is part of a diverse set of rare histiocytic disorders marked by infiltration of tissues with neoplastic myelomonocytic-derived cells. Molecular analysis has yielded new insights into the classification and management of histiocytic diseases. A three-year-old presented with atypical croup due to a localized subglottic histiocytic lesion mimicking subglottic hemangioma.
View Article and Find Full Text PDFUse of ALK Immunohistochemistry for Optimal Therapeutic Strategy of Pulmonary Large-cell Neuroendocrine Carcinoma and Identification of a Novel Fusion Oncokinase.
Anticancer Res
January 2019
Department of Diagnostic Pathology and Laboratory Medicine, Kindai University Nara Hospital School of Medicine, Nara, Japan.
Background: Patients with adenocarcinoma of the lung are routinely screened for anaplastic lymphoma kinase (ALK) rearrangement because they can be treated by ALK-specific targeted therapy. The clinical and molecular characteristics of large-cell neuroendocrine carcinoma (LCNEC) associated with ALK rearrangement are still unclear. Herein, we assessed the ALK status in a series of patients with LCNEC by testing methods commonly used for adenocarcinoma.
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