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Loss of H3K27me3 occurs in a large subset of embryonal rhabdomyosarcomas: Immunohistochemical and molecular analysis of 25 cases.
Ann Diagn Pathol
June 2021
Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands.
Loss of histone 3 lysine 27 trimethylation (H3K27me3) has been described as a diagnostic marker for malignant peripheral nerve sheath tumor (MPNST), also discriminating MPNST with rhabdomyoblastic differentiation (malignant Triton tumor) from rhabdomyosarcoma (RMS). We studied the immunohistochemical expression of H3K27me3 in embryonal RMSs (ERMSs), performed methylation profiling in order to support the diagnosis and RNA-sequencing for comparison of the transcriptome of H3K27me3-positive and -negative cases. Of the 25 ERMS patients, 17 were males and 8 were females with an age range from 1 to 67 years (median, 6 years).
View Article and Find Full Text PDFOverview of primary adult retroperitoneal tumours.
Eur J Surg Oncol
September 2020
Department of Surgery, Institut Curie, PSL University, 26 Rue d'Ulm, Paris, France. Electronic address:
In front of a primary retroperitoneal tumour, it is necessary to have in mind all possible diagnoses in order to specify the diagnostic strategy and the treatment. According to the World Health Organization (WHO) classification of tumours, mesenchymal benign and malignant tumours (including sarcomas and, currently, neurogenic tumours), parasympathetic tumours, extragonadal germ cell tumours, and lymphoid tumours have been identified. By definition, primary retroperitoneal tumours start independently from the retroperitoneal organs.
View Article and Find Full Text PDFRetroperitoneal Malignant Peripheral Nerve Sheath Tumor on 99mTc-DTPA Renal Scintigraphy.
Clin Nucl Med
August 2019
From the Departments of Nuclear Medicine.
Findings of Tc-DTPA renal scintigraphy of a retroperitoneal malignant peripheral nerve sheath tumor are reported here. The patient was a 48-year-old woman who presented discomfort and intermittent dull pain in the left upper quadrant of the abdomen for approximately 3 weeks.
View Article and Find Full Text PDFMultiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
Fam Cancer
October 2019
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals Foundation Trust, Manchester, M13 9WL, UK.
A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.
View Article and Find Full Text PDFMalignant peripheral nerve sheath tumors (MPNST) are rare spindle-cell sarcomas derived from Schwann cells or pluripotent cells of the neural crest accounting for less than 10 % of all soft tissue sarcomas. They arise from major or minor peripheral nerve fibers or their sheaths. The World Health Organization coined the term MPNST for tumors of neurogenic origin with similar biological behavior replacing all the previous heterogeneous and, often, confusing nomenclature including malignant schwannoma, malignant neurilemmoma, and neurofibrosarcoma.
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