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Hydroxychloroquine prevents resistance and potentiates the antitumor effect of SHP2 inhibition in NF1-associated malignant peripheral nerve sheath tumors.
Proc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
View Article and Find Full Text PDFLife-threatening Lymphatic Malformation With Somatic Activating NRAS Mutation Successfully Treated With Trametinib: A Case Study.
J Pediatr Hematol Oncol
January 2025
Cook Children's Medical Center, Fort Worth, TX.
Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation.
View Article and Find Full Text PDFRefractory small cell lung cancer with pancreatic metastasis: A case report.
Medicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, The Affiliated Hospital of Inner Mongolia Medical University, Inner Mongolia, Hohhot, China.
Rationale: The occurrence of refractory small cell lung cancer (rSCLC) with pancreatic metastasis is a relatively rare clinical condition, which is typically accompanied by a poor prognosis and rapid disease progression.
Patient Concerns: A 65-year-old male farmer from China was diagnosed with limited-stage small cell lung cancer (SCLC) 8 months ago. Following 6 cycles of EP chemotherapy, the patient's tumor response showed partial relief.
Malignant hypertension induces thrombotic microangiopathy and renal failure: A case report.
Medicine (Baltimore)
January 2025
Faculty of Chinese Medicine, Macau University of Science and Technology, Taipa, Macau, China.
Rationale: Thrombotic microangiopathies (TMA) caused by malignant hypertension is an acute and critical disease among rare diseases. Although renal biopsy pathology is a golden indicator for diagnosing kidney disease, it cannot distinguish between primary and secondary TMA and requires a comprehensive diagnosis in conjunction with other laboratory tests and medical history.
Patient Concerns: A 33-year-old young man was hospitalized due to unexplained kidney failure.
Safety and efficacy of endoscopic resection for gastric gastrointestinal stromal tumors: a retrospective cohort study.
Minim Invasive Ther Allied Technol
January 2025
Department of Gastroenterology, Zhongda Hospital Southeast University, Nanjing, China.
Background: The aim of this study was to verify the safety and efficacy of endoscopic resection (ER) for gastric gastrointestinal stromal tumors (GISTs).
Methods: Among a consecutive series of resections for gastric GISTs performed in a single center, the outcomes of patients who had ER were compared to standard surgical resection (SR).
Results: In the cohort, 329 consecutive primary localized gastric GISTs patients (, ER/SR = 251/78) were enrolled.
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