TY - JOUR
T1 - Epithelioid rhabdomyosarcoma
T2 - Report of the first case in the jaw
AU - de Aguiar, Maria Cássia Ferreira
AU - de Noronha, Mariana Saturnino
AU - Silveira, Roger Lanes
AU - Araújo, José Augusto Dias
AU - Werkema, Flavio Sirihal
AU - Bell, Diana
AU - Caldeira, Patrícia Carlos
N1 - Funding Information:
We thank Santa Casa de Misericórdia de Belo Horizonte, Dr João Batista de Oliveira Andrade, and Dr Fábio Cunha Peixoto Ladeira for their clinical support. This study was supported by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Brazil (finance code 001; M.S. Noronha is a scholarship recipient) and by Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), Brazil.
Publisher Copyright:
© 2020 Elsevier Inc.
PY - 2020/11
Y1 - 2020/11
N2 - Objectives: Epithelioid rhabdomyosarcoma (EpiRMS) is a novel morphologically distinct variant of rhabdomyosarcoma, with an unusually challenging microscopic diagnosis. The occurrence of rhabdomyosarcomas in the jaws is extremely rare. This study presents the first case of EpiRMS in the jaw (mandible) and a literature review of the previous 35 cases of EpiRMS. Study Design: Here, we report a case of EpiRMS affecting an 18-year-old male patient. Clinical, imaging, microscopic, and immunohistochemical features are discussed and previously reported cases of EpiRMS are reviewed. Results: An 18-year-old male patient presented with an exophytic sessile growth on the buccal gingiva, and orthopantomography revealed irregular bone loss. Microscopic analysis showed a large number of cells with epithelioid appearance. Immunohistochemistry staining was positive for desmin, myogenin, MyoD1, smooth muscle actin, h-caldesmon, INI-1, and AE1-AE3. The patient's disease was staged as T4aN1M0 and was treated with surgical excision combined with chemotherapy. Conclusions: The occurrence of RMS in the mandible is rare, and this is the first case of EpiRMS in the jaw. EpiRMS is an unusual histologic subtype that mimics other sarcomas and epithelial malignancies, making diagnosis a challenge. A specific immunohistochemistry panel aids in the diagnosis. EpiRMS has an aggressive course and an unfavorable prognosis.
AB - Objectives: Epithelioid rhabdomyosarcoma (EpiRMS) is a novel morphologically distinct variant of rhabdomyosarcoma, with an unusually challenging microscopic diagnosis. The occurrence of rhabdomyosarcomas in the jaws is extremely rare. This study presents the first case of EpiRMS in the jaw (mandible) and a literature review of the previous 35 cases of EpiRMS. Study Design: Here, we report a case of EpiRMS affecting an 18-year-old male patient. Clinical, imaging, microscopic, and immunohistochemical features are discussed and previously reported cases of EpiRMS are reviewed. Results: An 18-year-old male patient presented with an exophytic sessile growth on the buccal gingiva, and orthopantomography revealed irregular bone loss. Microscopic analysis showed a large number of cells with epithelioid appearance. Immunohistochemistry staining was positive for desmin, myogenin, MyoD1, smooth muscle actin, h-caldesmon, INI-1, and AE1-AE3. The patient's disease was staged as T4aN1M0 and was treated with surgical excision combined with chemotherapy. Conclusions: The occurrence of RMS in the mandible is rare, and this is the first case of EpiRMS in the jaw. EpiRMS is an unusual histologic subtype that mimics other sarcomas and epithelial malignancies, making diagnosis a challenge. A specific immunohistochemistry panel aids in the diagnosis. EpiRMS has an aggressive course and an unfavorable prognosis.
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U2 - 10.1016/j.oooo.2020.01.004
DO - 10.1016/j.oooo.2020.01.004
M3 - Article
C2 - 32173396
AN - SCOPUS:85081935634
SN - 2212-4403
VL - 130
SP - e308-e315
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
IS - 5
ER -