Publications by authors named "I Giovannoni"

Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β-catenin and S100.

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Over the past decade, advancements in molecular biology have contributed to changes in the diagnostic classification of Spitz neoplasms, including Spitz nevi, atypical Spitz tumors, and Spitz melanomas. The recent World Health Organization classification of skin tumors identifies fusion kinases, including NTRK1, NTRK2, and NTRK3, as critical drivers of these lesions. New fusion genes have continued to expand the spectrum of known molecular alterations, particularly within the category of Spitz NTRK-rearranged lesions.

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Article Synopsis
  • Approximately 10% of pediatric cancers are linked to cancer predisposition syndromes, with specific genes like DICER1 playing crucial roles in certain tumors, while the impact of BRCA1/2 remains uncertain.
  • This study presents two cases of young cousins who both have a germline BRCA2 variant and developed tumors featuring somatic DICER1 mutations, indicating a possible connection between these genetic factors.
  • Further research is needed to understand how BRCA1/2 and DICER1 variants interact and the implications this has for pediatric cancer risk and treatment options.
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  • * Primary renal synovial sarcomas can appear similar to other kidney tumors, like nephroblastoma, and may exhibit distinct features such as myxoid stroma and specific immunohistochemical positivity.
  • * The case discussed highlights the importance of molecular analysis in diagnosis and notes that, despite advanced disease, chemotherapy led to an unexpectedly positive response in the patient.
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EGFR aberrations are reported in a subset of myofibroblastic lesions with kinase domain duplication (EGFR-KDD) and exon 20 mutations being assigned to infantile fibrosarcomas (IFS), mesoblastic nephroma, and fibrous hamartoma of infancy (FHI), respectively. In this retrospective study, we correlated molecular findings with the histomorphology of 14 myofibroblastic lesions harboring such genetic changes identified by NGS. We additionally performed DNA methylation profiling (DNAmp) and immunohistochemistry.

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