Rhabdomyosarcoma

P1, N=40, Active, not recruiting, Iovance Biotherapeutics, Inc. | Recruiting --> Active, not recruiting

Immunohistochemistry plays a crucial role in interpreting a specific diagnosis or narrowing the differential diagnosis of SRCTs. Molecular genetic investigations are essential, particularly in cases exhibiting atypical or overlapping histologic and immunohistological features.

Chemoimmunotherapy with carboplatin, etoposide, and atezolizumab resulted in a remarkable tumor response. This is an extremely rare case of C-SCLC with rhabdomyosarcomatous differentiation that was diagnosed using a thoracoscopic biopsy and was treated with chemoimmunotherapy.

In this study, targeted next-generation sequencing using the AmpliSeq for Illumina Cancer HotSpot Panel identified pathogenic mutations in canonical cancer driver genes: tumor protein p53 (TP53) NM_000546.6:c.730G>T (p.Gly244Cys) and platelet-derived growth factor receptor alpha (PDGFRA) NM_006206.6:c.2525A>T (p.Asp842Val) mutations in renal leiomyosarcoma and NRAS proto-oncogene, GTPase (NRAS) NM_002524.5:c.35G>T (p.Gly12Val) mutation in the ovarian tumor. These findings suggest a potential benefit of personalized therapies for XP patients with internal malignancies.

Indeed, PAX3 is overexpressed in several cancers, including melanoma, neuroblastoma, and rhabdomyosarcoma. While there is still much that is unknown about the mechanisms by which PAX3 controls such a wide array of key cellular functions, a great deal of progress has been made to advance our understanding of this critical and multi-faceted factor.

Recent examples include spindle cell rhabdomyosarcomas with TFCP2 fusions, keratin-positive giant-cell rich tumors with HMGA2::NCOR2 fusions, NR1D1- rearranged sarcomas, malignant epithelioid neoplasms with FET::CREB fusions, and the very recently described ossifying spindled and epithelioid tumors (OSET). This review will address the unique clinical, histologic, and immunophenotypic characteristics of these rare neoplasms and provide practical considerations for molecular testing in challenging cases of keratin-positive mesenchymal neoplasia.

This case contributes to the molecular characterization of bladder sarcomatoid carcinoma through WES. The 19q13 amplification with AKT2 and ERCC2 copy-number gains represents a hypothesis-generating finding that warrants further investigation in larger cohorts.

All findings were classified as ESCAT Tier IIorIII. Our findings support the value of integrating genomic and clinical data to accelerate translational research in rare tumours.

This process significantly suppresses the proliferation of RMS. These findings highlight the potential of DT as a therapeutic candidate for RMS and propose a ferroptosis-targeting strategy that may improve treatment outcomes.

The rapid onset of rhabdomyolysis following ERCP raises the possibility that tumor manipulation or antigenic exposure may serve as an immune trigger for paraneoplastic muscle injury.

Recognition of these diverse presentations requires integration of morphologic assessment, immunohistochemistry, and increasingly, molecular diagnostics. Continued clinicopathologic studies and molecular characterization will be essential to refine classification, improve diagnostic accuracy and enhance understanding of the biologic behavior of superficial RMS.