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http://dx.doi.org/10.4103/0972-6748.328860 | DOI Listing |
BMJ Case Rep
January 2025
Department of Internal Medicine, University of Kentucky, Lexington, Kentucky, USA.
BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as and Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia.
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January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
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January 2025
Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Salivary gland malignancies are rare, accounting for less than 5% of head and neck cancers. Mucoepidermoid carcinoma (MEC) is the most common salivary gland tumour, predominantly found in the parotid gland. However, it has rarely been reported in the tongue.
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January 2025
Department of Hepatology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Iran J Med Sci
December 2024
Department of Oral and Maxillofacial Radiology, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
Fibrous dysplasia is a slow-progressing benign condition characterized by abnormal bone formation that leads to some skeletal disorders. Although some of the fibrous dysplasia have unusual clinical and radiographic features that can lead to a challenging diagnosis, most lesions reveal an expansile bone defect due to cortex thinning. This report presented a case of monostotic fibrous dysplasia of a 43-year-old woman with involvement of the right maxillary jaw and sinuses, which indicated unusual histopathological features.
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