Diagnosis of alveolar rhabdomyosarcoma in effusion cytology: a diagnostic pitfall

Thiryayi, S. A.; Rana, Durgesh; Roulson, Jo‐An; Woodhead, Mark; Eyden, Brian P; Hasleton, Philip

doi:10.1111/j.1365-2303.2009.00700.x

Cited by 12 publications

(29 citation statements)

References 7 publications

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“…Further workup revealed the presence of neoplastic cells that exhibited immunoreactivity for myogenin ultimately leading to a diagnosis of metastatic RMS. Two additional case reports describe pleural effusion specimens with cytologically suspicious cells that exhibited nuclear immunoreactivity for myogenin thereby confirming a diagnosis of metastatic RMS …”

Section: Discussionmentioning

confidence: 99%

“…Rarely, RMS can exfoliate into body fluids resulting in malignant effusions. [1][2][3][4] Histologic subtypes of RMS include embryonal, alveolar, and pleomorphic RMS. Diagnosis of RMS is based on a combination of histologic findings in surgical biopsies or resections along with ancillary studies including immunohistochemistry and cytogenetics.…”

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confidence: 99%

“…9 The utility of myogenin immunocytochemistry is therefore of particular interest for the diagnosis of RMS in effusion specimens as the cytomorphologic distinction between RMS and its mimics including reactive mesothelium, metastatic carcinoma, and other sarcomas can be challenging. 2,4 In addition, the diagnostic utility of desmin is limited as benign mesothelial cells in the background will also exhibit immunoreactivity for desmin. 10 Although immunohistochemistry for myogenin has been thoroughly studied in biopsies and surgical resection specimens, reports in the literature regarding the efficacy of myogenin immunocytochemistry in the diagnosis of RMS in cytology specimens, especially effusions, are sparse and primarily limited to case reports.…”

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confidence: 99%

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Diagnostic evaluation of metastatic rhabdomyosarcoma in effusion specimens

Alderman

Thomas

Roh

2013

Diagnostic Cytopathology

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Sarcomas, including rhabdomyosarcoma (RMS), are rarely encountered in effusion specimens; therefore, difficulties in the accurate diagnosis of metastatic sarcomas in effusions can occasionally arise. Immunohistochemistry for myogenin has emerged as a useful adjunct in the diagnosis of RMS, especially in small biopsy specimens. To date, there are no published series describing the utility of immunocytochemistry for myogenin in the diagnosis of RMS in effusion specimens. A total of 15 patients, for whom metastatic sarcomas were diagnosed in effusion specimens between 1998 and 2012, were identified for analysis: alveolar RMS (n = 5); embryonal RMS (n = 1); pleomorphic RMS (n = 1); angiosarcoma (n = 1); Ewing's sarcoma (n = 2); osteosarcoma (n = 1); endometrial stromal sarcoma (n = 1); unclassified spindle cell sarcoma (n = 1); unclassified/undifferentiated pleomorphic sarcoma (n = 1); and leiomyosarcoma (n = 1). Immunocytochemistry for myogenin was performed for each of these cases as well as for 102 effusions that were positive for metastatic carcinoma. Immunocytochemistry for myogenin diffusely and strongly highlighted the nuclei of the tumor cells in six (86%) of seven cases of metastatic RMS; specifically, the five alveolar RMS and one embryonal RMS cases. The one case of pleomorphic RMS, the eight remaining metastatic sarcoma cases, and all 102 cases of metastatic carcinoma were completely negative for myogenin expression. In conclusion, immunocytochemistry for myogenin is a sensitive and specific ancillary adjunct in the diagnostic evaluation of metastatic RMS in effusion specimens.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Diagnostic evaluation of metastatic rhabdomyosarcoma in effusion specimens

Alderman

Thomas

Roh

2013

Diagnostic Cytopathology

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“…Similar to our experience, the authors of a recent case report encountered difficulties in differentiating rhabdomyosarcomas from reactive mesothelial cells. [8]…”

Section: Discussionmentioning

confidence: 99%

“…Although according to some authors sarcomas may represent up to 5% of all malignant effusion specimens,[5] malignant effusions are rare in rhabdomyosarcoma patients, and experience with the cytological features of RMS in effusions is limited. [6–8] We herein present a case of metastatic rhabdomyosarcoma diagnosed on cytological examination of the ascites fluid and discuss the diagnostic difficulties that were encountered in this case.…”

Section: Introductionmentioning

confidence: 99%

Cytological diagnosis of metastatic alveolar rhabdomyosarcoma in the ascitic fluid: Report of a case highlighting the diagnostic difficulties

2012

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Alveolar rhabdomyosarcoma is an uncommon tumor affecting adolescents and young adults that is only rarely encountered in body fluid cytology. We report the cytological features of metastatic alveolar rhabdomyosarcoma in the ascitic fluid of a 17-year-old female patient, who had presented with abdominal distention, 21 months after being diagnosed with perirectal alveolar rhabdomyosarcoma. The rare single neoplastic cells that were admixed with abundant reactive mesothelial cells were initially misinterpreted as reactive mesothelial cells. However, their neoplastic nature was established after a careful review of their cytological features and the performance of immunoperoxidase stains. Compared to the reactive mesothelial cells that were present in the sample, the malignant cells were smaller, with less ample and more homogenous cytoplasm. They had slightly larger, more hyperchromatic, and more frequently eccentric nuclei, with larger nucleoli. This case highlights the potential pitfall of the misinterpretation of metastatic alveolar rhabdomyosarcoma cells for reactive mesothelial cells. Awareness of this potential diagnostic problem and recognition of the cytomorphological features of this neoplasm in the body fluids allows the identification of malignant cells, even when they are rare and intimately associated with mesothelial cells.

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Alveolar rhabdomyosarcomas involving serous cavity fluid specimens exhibit diverse cytomorphologies: A case report and review of the literature

Jones

VandenBussche

2020

Diagnostic Cytopathology

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Involvement of serous cavity specimens by alveolar rhabdomyosarcoma (ARMS) is a rare event and only a few case reports have been reported in the literature, with conflicting cytomorphologic patterns. Herein, we report on a 41-year-old man with no significant past medical history who presented with pancytopenia and shortness of breath and was found to have widely metastatic sinonasal alveolar rhabdomyosarcoma, including involvement of the pleura. The pleural fluid specimen was cellular and contained ARMS cells in small-to-medium sized three-dimensional fragments that resembled an adenocarcinoma or mesothelioma, and numerous single cells were seen in the background. The individual tumor cells demonstrated variable morphology; all were large, with varying degree of cytoplasm, and multinucleated cells were commonly seen in the background. The cells were negative for calretinin and claudin-4 and were positive for myogenin, confirming the diagnosis. Given the cytomorphologic diversity of ARMS seen in serous fluid specimens, patient history and the use of confirmatory immunostains are essential.

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Diagnosis of alveolar rhabdomyosarcoma in effusion cytology: a diagnostic pitfall

Cited by 12 publications

References 7 publications

Diagnostic evaluation of metastatic rhabdomyosarcoma in effusion specimens

Diagnostic evaluation of metastatic rhabdomyosarcoma in effusion specimens

Cytological diagnosis of metastatic alveolar rhabdomyosarcoma in the ascitic fluid: Report of a case highlighting the diagnostic difficulties

Alveolar rhabdomyosarcomas involving serous cavity fluid specimens exhibit diverse cytomorphologies: A case report and review of the literature

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