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A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
View Article and Find Full Text PDFDiagnostic and Therapeutic Approach to Rare Tongue Lipoma.
J Craniofac Surg
January 2025
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University.
Lipomas are benign soft tissue tumors composed of mature adipocytes, commonly found in subcutaneous tissues. Despite their prevalence in various body regions, they are relatively rare in the oral and maxillofacial regions. This study retrospectively analyzed the clinical and imaging characteristics, as well as the treatment outcomes of 57 patients diagnosed with lipoma.
View Article and Find Full Text PDFA Neonate Presenting With Large Abdominal Mass: A Rare Case of Congenital Leukemia.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, Teerthanker Mahaveer Medical College and Research Center, TMU, Moradabad, Uttar Pradesh, India.
Leukemia symptoms occurring in the first 4 weeks of infancy are known as congenital leukemia. We present a case of congenital leukemia in a full-term neonate manifesting at birth with a grossly distended abdomen due to a large abdominal mass. Ultrasonography of the abdomen showed a large abdominal mass originating from the liver.
View Article and Find Full Text PDFClonorchiasis, Marked Eosinophilia, and the Lack of Blasts in the Circulation Delaying the Diagnosis of Pediatric B-Lymphocytic Leukemia.
J Pediatr Hematol Oncol
January 2025
Department of Clinical Laboratory, The People's Hospital of Longhua Shenzhen, Shenzhen, China.
Eosinophilia is rare in pediatric acute lymphoblastic leukemia. In this report, we present a case of acute lymphoblastic leukemia with marked eosinophilia, whose diagnosis was delayed because of clonorchiasis.
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.
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