The discovery of gene fusions involving Neuregulin-1 () within solid tumors has important therapeutic implications, as they are being actively explored as targets for emerging ERBB/ERBB2/ERBB3-directed anti-cancer agents. fusions are very uncommon across all tumor types and are infrequently documented in the medical literature. We report a female patient presenting with widespread peritoneal carcinomatosis diagnosed as high grade serous fallopian tube carcinoma, which harbored a previously undescribed :: fusion.
View Article and Find Full Text PDFThe most common type of melanoma is cutaneous melanoma (CM). The predominant mutational signature is that of ultraviolet radiation (UVR) exposure. The Cancer Genome Atlas (TCGA) molecular classification includes four major subtypes of CM based on common genetic alterations involving the following genes: BRAF, NRAS, and NF1, with a small fraction being "triple" wild-type.
View Article and Find Full Text PDFBACKGROUND Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a paraneoplastic syndrome, oncogenic osteomalacia, due to tumor-induced urinary phosphate wasting. It is demonstrated to be predominantly mediated by fibroblast growth factor 23 (FGF23)/fibroblast growth factor receptor 1 (FGFR1) axis.
View Article and Find Full Text PDFPseudomyogenic hemangioendothelioma (PMHE), a rare vascular neoplasm, was first described in 1992 asa fibroma-like variant of epithelioid sarcoma, and would be termed as epithelioid sarcoma-like hemangioendothelioma a decade later due to its significant histologic overlap with epithelioid sarcoma and diffuse cytokeratin expression. PHME is currently defined as a distinct, potentially intermediate malignant, rarely metastasizing neoplasm with vascular/endothelial differentiation. It is characterized by young age (typically less than 40 years old), extremity location (approximately ~80%), and t(7:19) SERPINE1::FOSB fusion as the most common molecular alteration.
View Article and Find Full Text PDFNephrogenic adenoma (NA) is an unusual benign epithelial tumor in the genitourinary tract. Here we report a fibromyxoid nephrogenic adenoma in a 37-year-old female presenting with over 10-year slow-growing renal pelvic mass that was diagnosed with bland spindle cell lesion in multiple previous biopsies. This is the first reported case of pure fibromyxoid NA in renal pelvis with close comparison and correlation of biopsy and resection findings over a 10-year span.
View Article and Find Full Text PDFMyelolipoma is an uncommon benign neoplasm composed of mature adipose tissue and hematopoietic elements. Myelolipoma occurs most frequently in the adrenal gland but occasionally can be seen in extra-adrenal locations such as lung, liver, retroperitoneum, mediastinum, and kidney. We report a case of extra-adrenal myelolipoma presented as a localized asymptomatic mass in the renal sinus of left native kidney of a 60-year-old woman.
View Article and Find Full Text PDFRenal capillary hemangiomas are rare and benign vascular tumors which are typically incidentally discovered on imaging. Surgical excision is often performed, as imaging appearance is similar to malignant lesions. Renal hemangiomas are typically solitary and unilateral.
View Article and Find Full Text PDF