Publications by authors named "Federico Repetto"
Among soft tissue tumors, MUC4 is expressed in low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma, and is regarded as a specific and sensitive marker for these malignant entities. These tumors are driven by oncogenic fusions involving FUS or EWSR1 as a 5' partner and CREB3L1 or CREB3L2 as a 3' partner. In this study, we describe the clinicopathologic and molecular features of a distinctive fibroblastic soft tissue neoplasm characterized by consistent co-expression of MUC4 and beta-catenin, and frequent underlying APC inactivation without evidence of EWSR1 or FUS rearrangements.
View Article and Find Full Text PDFBackground: Face transplant rejection is primarily monitored through skin biopsies, but mucosal tissue may detect immune rejection events missed by skin biopsies.
Methods: We retrospectively reviewed 47 paired mucosal and facial skin biopsies and 37 paired facial skin and sentinel flap biopsies from nine face transplant recipients. Rejection was graded using the 2007 Banff classification.
Fluorescence in-situ hybridization assessment of spindle cell-rich testicular sex cord stromal tumors demonstrates multiple chromosomal gains across histologic subtypes.
Hum Pathol
November 2024
Article Synopsis
- Spindle cell-rich testicular sex cord-stromal tumors (TSCSTs) include types like myoid gonadal stromal tumor (MGST), adult granulosa cell tumor (AGCT), and unclassified TSCST, showing histopathologic similarities and lacking clear oncogenic drivers.
- DNA sequencing indicates common chromosomal gains in these tumors, but further validation of these findings has not yet taken place, and the amount of chromosomal alterations varies among individual tumors.
- This study used fluorescence in-situ hybridization (FISH) to assess chromosomal changes in 10 tumors, revealing consistent increases in specific chromosomes across various cases, while also uncovering partial disagreements between FISH analysis and previous genomic sequencing results,
Ovarian-type (ie, Mullerian) epithelial tumors occurring in the testicular and paratesticular regions are exceptionally rare, with only a handful reported worldwide. Serous tumors are the most frequently encountered subtype among these rare tumors. The pathogenesis of these tumors within the testicular and paratesticular regions remains a subject of intrigue and debate, with various hypotheses attempting to explain their presence in the paratestis region, where most tumors occur.
View Article and Find Full Text PDF-amplified renal cell carcinoma (RCC), which belongs to the MITF family of RCC, is characterized by genomic amplification at the 6p21.1 locus where the gene is located. The vascular endothelial growth factor A and cyclin D3 genes are also located at this same locus.
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