Rama Aburass, Sarah Al Sharie, Nisreen Amaiyri, Nasim Sarhan, Mouness Obeidat, Maysa Al-Hussaini
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引用次数: 0
Abstract
CIC-rearranged sarcoma is a rare, aggressive tumor entity with a dismal outcome. We describe a patient with a history of B-cell acute lymphoblastic leukemia (B-ALL), presenting to our hospital with seizures and left-sided upper limb weakness. Brain imaging revealed a localized right frontal mass, which was surgically resected. Initial pathological analyses suggested a secondary malignant neoplasm, not otherwise specified. However, the tumor's methylome was profiled and analyzed using the DKFZ brain tumor classifier to reach a diagnosis of CIC-rearranged sarcoma, confirmed by FISH study. The patient received the ICE protocol, alongside focal radiotherapy. The patient experienced a local recurrence 14 months post-diagnosis. The brain tumor classifier significantly improved the efficiency of diagnosing this rare tumor in a pediatric patient. However, effective therapeutic regimens for CIC-rearranged sarcomas remain unavailable.
期刊介绍：
Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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