Adult Onset Primary Pineal Rhabdomyosarcoma

Scull, C. Wesler; Amar, Surabhi; Feiz-Erfan, Iman; Dave, Hitendu; Gridley, Daniel

doi:10.1200/jco.2013.50.8036

Cited by 7 publications

(15 citation statements)

References 20 publications

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“…None of the other cases reported any neurological deficit. [2910] Our case had a left-sided facial paresis.…”

Section: Discussionmentioning

confidence: 84%

“…All the three case reports described positive cytoplasmic staining for Desmin,[2910] with Ishi et al [2] also reporting a part positivity in immature cells. In addition to Desmin, Scull et al [9] reported positivity for myogenin, INI1, and muscle-specific actin, whereas Lau et al [10] reported positivity for myogenin and myoD1. Synaptophysin, NSE, GFAP, CD117, PLAP, CK, and OCT3/4 were some of the negative markers reported by these three case reports[2910] [Table 1].…”

Section: Discussionmentioning

confidence: 95%

“…[34] Common pineal region tumors include pineal parenchymal tumors and the germ cell tumors,[1] RMS has been reported only three times at this site. [2910]…”

Section: Discussionmentioning

confidence: 99%

“…They also reported multinucleated myotube-like structures which were focally seen in our case. Scull et al [9] described a pleomorphic tumor with malignant spindle cells and large polygonal tumor cells with rhabdomyoblastic morphology.…”

Section: Discussionmentioning

confidence: 99%

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Primary pineal rhabdomyosarcoma: A rare case

2019

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Primary pineal rhabdomyosarcoma (RMS) is extremely rare, and only three cases have been reported so far. Here, we report a case of 12-year-old male who presented with complaints of diplopia and diminution of vision since 15 days. He also had left-sided facial paresis. Magnetic resonance imaging brain revealed a space-occupying lesion in the region of pineal gland. The patient underwent midline suboccipital craniectomy with excision of tumor. Microscopic examination revealed a highly cellular tumor with areas showing small round cells admixed with cells having abundant eosinophilic cytoplasm resembling rhabdomyoblasts and multinucleated giant cells. Differential diagnoses of pineal anlage tumor and primary RMS were considered. The tumor cells were positive for desmin while being negative for synaptophysin and glial fibrillary acidic protein. Myogenin was used to confirm the diagnosis of RMS, which showed focal nuclear positivity. INI1 was retained. All the markers for germ cell tumors were negative.

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“…None of the other cases reported any neurological deficit. [2910] Our case had a left-sided facial paresis.…”

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 95%

“…[34] Common pineal region tumors include pineal parenchymal tumors and the germ cell tumors,[1] RMS has been reported only three times at this site. [2910]…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Primary pineal rhabdomyosarcoma: A rare case

2019

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“…However, the prognosis for patients with metastases is relatively poor, with a 5-year survival rate of only 30% (3). Diagnostic methods for RMS include clinical and laboratory examination, imaging analysis, pathological diagnosis and immunohistological examination (4). RMS has been divided into 3 main subtypes: Embryonal, alveolar and pleomorphic RMS (PRMS).…”

Section: Introductionmentioning

confidence: 99%

Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report

Yang

Zhang

et al. 2016

Oncology Letters

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Abstract. Pleomorphic rhabdomyosarcoma (PRMS) is a rare type of soft tissue tumor accounting for <2% of all adult sarcomas. The present study describes a case of a 28-year-old male patient with primary PRMS of the right thigh. The patient was initially diagnosed with a schwannoma and underwent conservative therapy at a local hospital. At the 6-month follow-up, the patient reported a marked increase in the size of the mass. Finally, the patient underwent fine-needle aspiration and total tumor resection. The tumor measured 11x9x5 cm³ in size and was located in the vastus intermedius muscle. According to histological and immunohistochemical findings, a diagnosis of PRMS was confirmed by an expert pathology consultant. Postoperative follow-up at 3 months revealed no evidence of recurrent disease or residual side effects from therapy. However, it is imperative that such cases are closely monitored following surgery, in order to evaluate the long-term efficacy of the procedure, since misdiagnosis may increase the risk of recurrence and metastasis. The present case is noteworthy due to the misdiagnosis of PRMS, the large size of the mass and the young age of the patient. IntroductionRhabdomyosarcoma (RMS) is a highly malignant type of soft tissue tumor with skeletal muscle differentiation. The incidence of RMS is ~43 cases per 10 million each year for individuals under the age of 20 (1). In patients with localized disease, the relapse-free survival rate has improved to 70-80% (2). However, the prognosis for patients with metastases is relatively poor, with a 5-year survival rate of only 30% (3). Diagnostic methods for RMS include clinical and laboratory examination, imaging analysis, pathological diagnosis and immunohistological examination (4). RMS has been divided into 3 main subtypes: Embryonal, alveolar and pleomorphic RMS (PRMS). The most common subtypes are the embryonal and alveolar subtypes (5). Primary PRMS is relatively rare and primarily affects adults, with a peak incidence in the fifth decade of life (6-9). It most commonly arises in the deep soft tissues of the extremities. Due to the similarities in clinical manifestations and imaging features between PRMS and other soft tissue tumors, PRMS is often misdiagnosed (10). The present study presents a case of PRMS that was misdiagnosed as schwannoma. This misdiagnosis resulted in the progression of the mass, and only following fine-needle aspiration and histological and immunohistochemical analysis was the tumor origin confirmed to be the skeletal muscle, and a final diagnosis of PRMS of the right thigh was provided. The present study was approved by the Ethics Review Committee of The First Affiliated Hospital of Nanchang University (Nanchang, China), and written informed consent was obtained from the patient. Case reportIn August 2014, a 28-year-old male patient presented to the Orthopedic Clinic of Taihe County People's Hospital (Ji'an, China) with a chief complaint of swelling in his right thigh for 1 month. According to the local district general hospital...

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