Rhabdomyosarcomas (RMS) are malignant tumors with skeletal muscle differentiation extremely rare in intraosseous sites. We reported a rare case of an aggressive intraosseous RMS found in the maxilla of a 17-year-old female patient with five months of evolution. Computed tomography revealed a large osteolytic lesion extending from tooth 21 to 27, causing buccal and lingual cortical plate perforation. Microscopically, the lesion showed a proliferation of spindle-shaped cells with elongated nuclei and eosinophilic cytoplasm, arranged in an interlaced fascicle pattern. The nuclei ranged from vesicular with distinct nucleoli to hyperchromatic. A focal component of plump to epithelioid cells with a moderate amount of eosinophilic cytoplasm was seen at the periphery of the tumor. The immunohistochemical analysis revealed positivity for desmin, MyoD1, and myogenin (scattered cells). S-100, SOX10, HMB45, β-catenin, and CD34 were negative. Ki-67 was positive in 30% of tumor cells. Fluorescence in situ hybridization (FISH) analysis showed the presence of a FUS-TFCP2 fusion. The diagnosis was intraosseous RMS with TFCP2 fusion. Surgical excision followed by chemo- and radiotherapy was carried out; however, the patient died of disease nine months after the treatment. Because of the rarity and non-specific signs and symptoms, the clinical diagnosis of intraosseous RMS is difficult and often overlooked. Therefore, careful histopathological evaluation, supported by immunohistochemical and molecular analysis, is essential to correct diagnosis. Early surgical excision with tumor-free margins and prolonged follow-up are strongly recommended.
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http://dx.doi.org/10.1016/j.oraloncology.2022.105876 | DOI Listing |
Histopathology
April 2024
Department of Pathology, Faculty of Medicine in Plzen, Charles University, Prague, Czech Republic.
Aims: Spindle-cell/sclerosing rhabdomyosarcomas (SS-RMS) are clinically and genetically heterogeneous. They include three well-defined molecular subtypes, of which those with EWSR1/FUS::TFCP2 rearrangements were described only recently. This study aimed to evaluate five new cases of SS-RMS and to perform a clinicopathological and statistical analysis of all TFCP2-rearranged SS-RMS described in the English literature to more comprehensively characterize this rare tumour type.
View Article and Find Full Text PDFPathol Res Pract
September 2023
Institute of Pathology, University of Würzburg, Würzburg, Germany; Comprehensive Cancer Center Mainfranken, University Hospital of Würzburg, Würzburg, Germany. Electronic address:
Rhabdomyosarcoma (RMS) with EWSR1/FUS::TFCP2 fusion is an emerging, molecularly defined, rare subtype of RMS. It can affect patients in a wide age range and follows an aggressive clinical course according to the reported cases. Due to its unusual clinical and pathohistological features, with a typical intraosseous presentation and common cytokeratin expression, the diagnosis is challenging, and metastatic undifferentiated/sarcomatoid carcinoma can be an important differential diagnosis.
View Article and Find Full Text PDFGenes Chromosomes Cancer
July 2023
Department of Pathology, City of Hope National Medical Center, Duarte, California, USA.
Rhabdomyosarcomas (RMS) are malignant mesenchymal tumors with skeletal muscle differentiation which are classified into alveolar, embryonal, pleomorphic, and spindle cell/sclerosing RMS. Within the spindle cell/sclerosing RMS tumor type there is a recently recognized sub-type categorized as intraosseous spindle cell RMS with TFCP2/NCOA2 gene fusion. This rare tumor is highly aggressive with predominant involvement of the craniofacial and pelvic bones with approximately 30 cases reported to date.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
October 2022
Department of Oral Pathology and Microbiology, Oral and Maxillofacial Pathologist, Moradabad, India.
Rhabdomyosarcoma (RMS) is a highly aggressive lesion and is commonly seen in children below the age of 10 years. The survival rate is not very high as an early diagnosis is often difficult. However, the treatment involves mainly surgery followed by chemotherapy and sometimes radiotherapy.
View Article and Find Full Text PDFHead Neck Pathol
June 2023
Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Background: Rhabdomyosarcoma (RMS) harboring EWSR1/FUS-TFCP2 fusions has been recently described as a distinct form of RMS with an aggressive course and predilection for the craniofacial bones, especially the jaws.
Methods: We report three new cases of this rare entity, two from Brazil and one from Guatemala, with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Additionally, we explored the English-language literature searching RMS with TFCP2 rearrangement or typical immunophenotype with co-expression of AE1/AE3 and ALK in the head and neck region.
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