The spectrum of underlying molecular abnormalities of clinically and biologically heterogeneous chronic lymphocytic leukaemia (CLL) and prolymphocytic leukaemia (PLL) has yet to be identified. While whole genome sequencing has identified several genes implicated in the pathogenesis and progression of CLL, the molecular lesions in a substantial proportion of patients remain to be elucidated. The incidence of the BRAF V600E mutation, widely implicated in solid tumours and other B-cell malignancies, was sought in a cohort of patients with CLL and related disorders. One CLL patient and one patient with B-prolymphocytic leukaemia (PLL) were found to harbour this mutation. Although present at a low frequency, the finding of BRAF V600E has biological and clinical implications for CLL and PLL.
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http://dx.doi.org/10.1016/j.leukres.2011.12.015 | DOI Listing |
Acad Radiol
January 2025
Department of Radiology and Intervention, Hospital Pakar Kanak-Kanak (UKM Specialist Children's Hospital), Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, 56000, Kuala Lumpur, Malaysia (Y.L., F.Y.L., J.N.C., H.A.H., H.A.M.); Makmal Pemprosesan Imej Kefungsian (Functional Image Processing Laboratory), Department of Radiology, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Kuala Lumpur 56000, Malaysia (H.A.M.). Electronic address:
Rationale And Objectives: Extrathyroidal extension (ETE) and BRAF mutation in papillary thyroid cancer (PTC) increase mortality and recurrence risk. Preoperative identification presents considerable challenges. Although radiomics has emerged as a potential tool for identifying ETE and BRAF mutation, systematic evidence supporting its effectiveness remains insufficient.
View Article and Find Full Text PDFJ Clin Neurosci
January 2025
Department of Neurosurgery, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Background: Craniopharyngiomas are epithelial tumors derived from the remnants of the Rathke pouch, while Rathke cleft cysts (RCC) are benign cystic lesions originating from the Rathke pouch itself [1]. Rathke cleft cysts comprise 10-15% of the hypophyseal tumors, while craniopharyngiomas are relatively rare, comprising only 2-5% of intracranial tumors [2]. Both located in the sellar and parasellar regions and share clinical symptoms including headache, visual disturbances, and endocrine dysfunction [3].
View Article and Find Full Text PDFPediatr Blood Cancer
January 2025
Department of Pediatrics. Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Programs allowing access to investigational drugs and off-label drug use for serious diseases have often been applied to pediatric cancers. A clinical study conducted under the Japanese "Patient-Proposed Healthcare Services" evaluated the efficacy and safety of dabrafenib plus trametinib in children with BRAF V600 mutant glioma (jRCTs071210071). This study successfully provided unapproved and off-label medications to four enrolled patients, two with low-grade glioma and two with high-grade glioma (median age: 10.
View Article and Find Full Text PDFSci Rep
January 2025
Genetic Analysis Department, Tsukiji Registered Clinical Laboratory, Riken Genesis Co., Ltd., Tokyo, Japan.
Comprehensive genomic profiling (CGP) is increasingly used as a clinical laboratory test and being applied to cancer treatment; however, standardization and external quality assessments (EQA) have not been fully developed. This study performed cost-effective EQA and proficiency tests (PT) for CGP testing among multiple institutions those belong to the EQA working group of Japan Association for Clinical Laboratory Science (JACLS). This study revealed that preanalytical processes, such as derived nucleic acids (NA) extraction from formalin fixed paraffine embedded (FFPE) samples, are critical.
View Article and Find Full Text PDFThyroid
January 2025
Head and Neck Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
The 2022 World Health Organization classification introduced the term high-grade follicular cell-derived nonanaplastic thyroid carcinoma (HGFCTC) to define invasive/infiltrative nonanaplastic thyroid carcinoma with high-grade features, including poorly differentiated thyroid carcinoma and high-grade differentiated thyroid carcinoma. Our objectives were to compare clinicopathological characteristics, oncologic outcomes, and mutation profiles among HGFCTC subgroups to better inform prognostication and treatment. In this single-center, retrospective cohort study of 252 patients who had surgery for HGFCTC from 1986 to 2020, we categorized HGFCTC and its related entity, "encapsulated noninvasive neoplasms of follicular cells with high-grade features," into five subgroups: (A) encapsulated noninvasive, (B) encapsulated with capsular invasion only (minimally invasive), (C) encapsulated angioinvasive with focal vascular invasion (VI), (D) encapsulated angioinvasive with extensive VI, and (E) infiltrative tumors.
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