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Molecular diversity of embryonic-type neuroectodermal tumors arising from testicular germ cell tumors.
Mod Pathol
December 2024
Department of Pathology & Laboratory Medicine, University of California Los Angeles,. Electronic address:
Embryonic-type neuroectodermal tumors (ENTs) arising from testicular germ cell tumors (GCTs) is a relatively common type of somatic transformation in GCTs with poor prognosis and limited therapeutic options, particularly when patients develop disease recurrence or metastasis. Knowledge of key events driving this transformation is limited to the paucity of comprehensive genomic data. We performed a retrospective database search in a CLIA- and CAP-certified laboratory for testicular GCT-derived ENTs that had previously undergone NGS-based comprehensive genomic profiling during the course of clinical care.
View Article and Find Full Text PDFSARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.
J Mol Diagn
January 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address:
An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.
View Article and Find Full Text PDFOrbital Sarcoma with Genetic Alterations in the Pediatric Age Group.
Fetal Pediatr Pathol
November 2024
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis.
View Article and Find Full Text PDFOutcomes of rectal cancer treatment in rural Australia and New Zealand: analysis of the bowel cancer outcomes registry.
ANZ J Surg
October 2024
Colorectal Unit, Department of Surgery, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Background: The demographics and geography of Australia and New Zealand (ANZ), with few metropolitan centres and vast, sparsely populated rural areas, represent a challenge to providing equal care to all patients. This study aimed to compare rectal cancer care at rural and urban hospitals in ANZ.
Methods: From the Bowel Cancer Outcomes Registry (BCOR, formerly known as the Bi-National Colorectal Cancer Audit; BCCA), rectal cancer patients treated between 2007 and 2020 were compared based on hospital location (urban versus rural).
Case report: Metastatic refractory undifferentiated small round-cell sarcoma successfully treated with surufatinib and camrelizumab.
Front Oncol
July 2024
Department of Oncology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.
Article Synopsis
- Undifferentiated small round-cell sarcomas (uSRCSs) are a tricky type of cancer to diagnose and treat, with no specific treatments available for advanced cases.
- A 37-year-old woman with advanced uSRCS tried several treatments that didn't work, including chemotherapy and a combination of other drugs.
- Finally, she responded well to a new treatment combining surufatinib and camrelizumab after many earlier treatments failed.
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