Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case

Trihia, Helen; Novkovic, Natasa; Provatas, Ioannis; Mavrogiorgis, Anastasios; Lianos, Evangelos

doi:10.1155/2019/6098747

Cited by 3 publications

(3 citation statements)

References 27 publications

(31 reference statements)

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“…The accuracy rate of FNAC in distinguishing benign versus malignant lesions is 92-97%, however, lower as of 76-81% for specific diagnosis in childhood tumors. Differential diagnosis of RMS in children, includes primitive lymphoma/leukemia, primitive neuroectodermal tumor, neuroblastoma, and Ewing sarcoma, has been compared (Table 1) [9]. Other differentials as malignant melanoma (HMB45, melan A positive), small cell carcinoma (CD56, synaptophysin positive), desmoplastic small round cell tumor (pan-cytokeratin, neuron-specific enolase, and desmin positive), Merkel cell carcinoma (CK20, neurofilament positive), and mesenchymal chondrosarcoma (CD99, SOX9, and S100 positive) should preferably be considered in adults.…”

Section: Discussionmentioning

confidence: 99%

“…FNAC smears show small, round primitive tumor cells admixed with large cells having abundant eosinophilic cytoplasm rich, eccentric round hyperchromatic nuclei resembling tadpole or ribbon in a characteristic tigroid background, that is, stripped nuclei in a blue-gray background of smeared cytoplasm. The presence of binucleate cells favors alveolar RMS [9]. FNAC material may be used for immunocytochemistry (cell block), cytogenetic analysis, flow cytometry, and image analysis.…”

Section: Discussionmentioning

confidence: 99%

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Metastatic rhabdomyosarcoma of breast: A rare presentation

Gahlot¹,

Chatterjee²,

Mukherjee³

et al. 2020

IJCR

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R habdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children constituting 3.5% of all cancers in them with the head and neck as the predominant site. RMS has a propensity to metastasize to the bone, bone marrow, lung, liver, brain, and lymph nodes in 14-28%, whereas, to the breast in 3.7-6.7% of cases [1,2]. Hays et al. (92%), Howarth et al. (86%), and D'Angelo et al. (100%) have observed alveolar RMS as the predominant histological subtype metastasizing to the breast [2]. Fine-needle aspiration cytology (FNAC) being a quick, safe, and economical technique, thus acquires an important role in providing morphological diagnosis for timely management [3]. FNAC smears show increased cellularity of discohesive, homogenous small round tumor cells with mildto-moderate cytological atypia, fine granular chromatin, and conspicuous nucleoli in a tigroid background [4].Histomorphology of trucut biopsy from the lesion shows primitive round to spindle cells having scant cytoplasm, hyperchromatic nuclei with admixed scattered rhabdomyoblasts exhibiting brightly eosinophilic abundant cytoplasm, and eccentric hyperchromatic nuclei. These tumor cells are immunopositive for desmin, muscle-specific antigen (MSA), myogenin, and negative for pan-cytokeratin, CD45, CD99, and synaptophysin, therefore, a definitive diagnosis of metastatic RMS of the breast was offered. The treatment of metastatic RMS of the breast comprises chemotherapy, radiotherapy, or surgery depending on the clinical profile. Embryonal RMS has a more favorable prognosis than alveolar or pleomorphic subtypes [5]. CASE REPORTA 16-year-old girl presented 2 years back with complaints of swelling over the right cheek and associated intermittent, scanty bleeding from the nose for 2 months duration. Contrast-enhanced computed tomography (CECT) of the nose and paranasal sinus revealed a large, heterogeneously enhancing soft-tissue mass in the right maxillary antrum associated with thinning/erosion of its wall thus suggestive of neoplastic etiology. Positron emission tomography-CT scan revealed FDG avid, heterogeneously enhancing soft-tissue mass in the right maxillary sinus measuring 5.1×4.3×5.4 cm with extension to the right ethmoidal, sphenoidal sinuses and reported as mitotic pathology.Biopsy from the right maxillary mass was reviewed at our hospital and diagnosed as embryonal RMS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Metastatic rhabdomyosarcoma of breast: A rare presentation

Gahlot¹,

Chatterjee²,

Mukherjee³

et al. 2020

IJCR

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“…En la revisión de Junyoung se reportan 26 casos de rabdomiosarcoma primario de mama, el subtipo más frecuente es el rabdomiosarcoma alveolar (Shin et al, 2019). Tomando en cuenta la referencia de Trihia se han reportado en revistas internacionales hasta el 2019, 10 casos de rabdomiosarcoma alveolar (Trihia et al, 2019). Se describe en este caso una presentación atípica del rabdomiosarcoma de mama en una paciente de 24 años.…”

Section: Introductionunclassified

Presentación atípica de masa en mama de 2 meses de evolución, reporte de caso clínico

Freire

Tigse²,

Freire³

et al. 2022

Ciencia Latina

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El rabdomiosarcoma primario de mama es una patología de baja incidencia en nuestro medio y también a nivel mundial, el subtipo más frecuente es el rabdomiosarcoma alveolar; se presenta con mayor frecuencia en niños y adolescentes; su etiología es desconocida, pero se ve asociado a tratamientos previos con radioterapia, quimioterapia, síndromes genéticos, entre otros. El panel estándar para realizar el diagnóstico es la inmunohistoquímica mediante marcadores como desmina, vimentina, miogenina. El tratamiento requiere de un abordaje multidisciplinar comprende tratamiento quirúrgico, quimioterapia y radioterapia. La media de sobrevida a 5 años es de 44%. Se presenta el caso de una paciente femenina de 24 años, que debuta con adenopatías en cuello, masa en región infraorbitaria, adenopatías a nivel supraclavicular y en mamas, el cuadro se acompaña de alza térmicas, equimosis en extremidades junto con hemorragia subconjuntival izquierda. Fue necesario realizar exámenes complementarios y se llega a un diagnóstico de Linfoma no Hodgkin de riesgo alto, estadio IV con infiltración a medula ósea con síntomas B más masa Burkitt más masa extranodal mediastinal, por lo que se inició tratamiento con quimioterapia con esquema RCHOP (rituximab, ciclofosfamida, vincristina, doxorrubicina, prednisona); recibió 8 ciclos con mejoría clínica, posterior realizan revisión de laminillas, de la primera biopsia de mama derecha dando el diagnóstico de rabdomiosarcoma alveolar. El diagnóstico diferencial del rabdomiosarcoma es amplio por lo que se requiere de exámenes especializados como inmunohistoquímica, reacción en cadena de polimerasa entre otros, para llegar a un diagnóstico definitivo lo más pronto posible

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Bilateral alveolar rhabdomyosarcoma of breast: a rare entity

et al. 2021

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Sarcomas of breast constitute less than 1% of all malignant breast tumours. Alveolar rhabdomyosarcoma (RMS) is very rare in breast with limited case reports in literature, and primary alveolar RMS arising from breast is still less common than metastatic RMS. Here, we report a case of primary bilateral alveolar RMS of breast in an adolescent female where the correct diagnosis was obfuscated by an overlap in the histological features of RMS and high-grade invasive ductal carcinoma.

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Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case

Cited by 3 publications

References 27 publications

Metastatic rhabdomyosarcoma of breast: A rare presentation

Metastatic rhabdomyosarcoma of breast: A rare presentation

Presentación atípica de masa en mama de 2 meses de evolución, reporte de caso clínico

Bilateral alveolar rhabdomyosarcoma of breast: a rare entity

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