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Metastatic retinoblastoma presenting as a left shoulder soft tissue mass: FNA findings and review of the literature
Author(s) -
CastelinoPrabhu Shobha,
Stoll Lisa Marie,
Li Qing Kay
Publication year - 2010
Publication title -
diagnostic cytopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.417
H-Index - 65
eISSN - 1097-0339
pISSN - 8755-1039
DOI - 10.1002/dc.21252
Subject(s) - medicine , retinoblastoma , rhabdomyosarcoma , differential diagnosis , sarcoma , pathology , metastasis , soft tissue , wilms' tumor , fine needle aspiration , clear cell sarcoma , radiology , cancer , biopsy , biochemistry , chemistry , gene
Abstract Retinoblastoma is a relatively rare malignant pediatric tumor accounting for ∼3% of childhood cancers and 1% of all cancer deaths in children under 15 years of age. During the clinical course of the disease, a metastasis usually occurs within the first year of diagnosis and is seen in 2% of retinoblastoma patients. Metastases to the intracranial region are common and account for ∼50% of the metastatic cases. Metastasis to the soft tissue is very rare. Herein, we report a case of metastatic retinoblastoma presenting as a left shoulder soft tissue mass in a 14‐year‐old female with a 14‐year history of familial bilateral retinoblastoma status post radiation therapy. In our case, the FNA cytology shows some features of the small round blue cell tumor group with inconspicuous Flexner‐Wintersteiner or Homer‐Right rosette formation. The unusual clinical presentation and morphology give rise to a diagnostic dilemma, with the differential diagnosis centering on the small round blue cell tumors such as lymphoma, rhabdomyosarcoma, nephroblastoma (Wilms' tumor), Ewing's sarcoma/PNET, and desmoplastic small round cell tumor. It also prompts concern for the development of a second primary tumor. The purpose of our study is to discuss the FNA cytology of metastatic retinoblastoma, its differential diagnoses, and the utility of immunohistochemistry. An accurate diagnosis is imperative due to the differences in prognosis and treatment implications for the various diseases. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.