Infantile Extrarenal Rhabdoid Tumor

Perlman, Elizabeth J.; Ali, Syed Z.; Robinson, R. Earl; Lindato, Ramiro; Griffin, Constance A.

doi:10.1007/s100249900019

Cited by 30 publications

(13 citation statements)

References 13 publications

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“…The SMARCB1 (INI1) gene, located on chromosome 22q11, is mutated or deleted in ERRT. Despite its rarity in somatic soft tissue, several cases, mainly included in series, have been reported in the mediastinum [ 73 , 155 , 158 , 198 ]. All five patients with sufficient clinical details died of disease.…”

Section: Tumours Of Uncertain Differentiationmentioning

confidence: 99%

Mesenchymal tumours of the mediastinum—part II

et al. 2015

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Section: Tumours Of Uncertain Differentiationmentioning

confidence: 99%

Mesenchymal tumours of the mediastinum—part II

et al. 2015

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“…Most cytogenetic studies have reported normal karyotypes, but a few indicated abnormalities at 22q and 11p15 including translocations and deletions [4,13,14]. Furthermore, Schofield et al [15] analyzed 30 renal RTs and found that 24 of 30 tumors (80%) had loss of heterozygosity (LOH) on chromosome 22q and 5 of 30 (17%) LOH at 11p15.5.…”

Section: Discussionmentioning

confidence: 97%

“…Extrarenal RTs are classically highly cellular lesions forming sheets or solid nests. The characteristic tumor cells are large, polygonal, with vesicular nuclei, prominent nucleoli, and abundant eosinophilic eccentric cytoplasm, that contain hyaline globular cytoplasmic inclusions [4]. However, a wide variety of morphological variants have been described, including those with osteoclast-like giant cells, collagenous stroma or myxoid background ground substance, and a minority are composed of predominantly nondescript ''small round blue cells'' with only highly focal rhabdoid inclusion present [1].…”

Section: Discussionmentioning

confidence: 99%

Primary Thoracic Myxoid Variant of Extrarenal Rhabdoid Tumor in Childhood

Fowler

Malone

Chisholm

et al. 2006

Fetal and Pediatric Pathology

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Primary extrarenal rhabdoid tumors (RT) are now recognized as a specific entity in pediatric oncological pathology practice. We present an unusual case of a small cell myxoid variant of a thoracic RT in an infant and highlight the importance of recent molecular developments in the diagnosis of these tumors. An 8-month-old child presented with a short history of cough and shortness of breath. Imaging demonstrated a large mass occupying the majority of the thoracic cavity on the right side. A percutaneous needle biopsy of the mass showed fragments of tissue composed of malignant tumor with a predominant "small ovoid cell" phenotype and extensive myxoid change, with small nests and islands of tumor cells; occasional cells demonstrated open vesicular nuclei, prominent nucleoli, and eosinophilic cytoplasmic inclusions. Immunohistochemical staining revealed focal strong cytoplasmic positivity for cytokeratin, focal strong paranuclear cytoplasmic vimentin positivity, and INI1 staining showed normal nuclear positivity in control tissues but was negative in tumor cell nuclei. Electron microscopy demonstrated characteristic paranuclear whorls of intermediate filaments confirming the diagnosis of extrarenal malignant RT. The diagnosis of malignant rhabdoid tumor may be difficult, particularly in cases, such as the present, with a predominant small-cell myxoid phenotype. The characteristic expression patterns of cytokeratin and vimentin provide strong clues to the diagnosis, and the use of INI1 antibody now makes definitive diagnosis possible even on needle core biopsies.

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“…1 Cytomorphologic appearance of RT on exfoliation in serous cavity fluid has been published previously and shows similar morphology to the present case. 9 Cytomorphologic distinction between RM and RT, therefore, would be a difficult issue but will rarely be required since RTs occur predominantly in children, often age 2 yr or less. However, in all likelihood the diagnosis of the primary tumor would already be known at the time of the CSF examination.…”

Section: Discussionmentioning

confidence: 99%

Rhabdoid meningioma: Cytopathologic findings in cerebrospinal fluid

Parwani

Mikolaenko

Eberhart

et al. 2003

Diagnostic Cytopathology

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Rhabdoid meningioma is a recently described, rare, WHO Grade III intracranial tumor with an aggressive growth pattern and increased risk of recurrence. We describe the cytopathologic findings on cerebrospinal fluid of one such case in a 26-yr-old female who underwent resection of a left temporo-parietal mass. Cerebrospinal fluid contained abundant malignant cells with a prominent "rhabdoid" phenotype, i.e., large cells, eccentric nuclei, single prominent nucleoli, and dense eosinophilic cytoplasm. Although rhabdoid meningioma has a characteristic cytomorphology, the differential diagnosis of this tumor would involve metastatic adenocarcinoma, metastatic malignant melanoma, and other tumors with "rhabdoid" features (such as an atypical teratoid/rhabdoid tumor).

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Infantile Extrarenal Rhabdoid Tumor

Cited by 30 publications

References 13 publications

Mesenchymal tumours of the mediastinum—part II

Mesenchymal tumours of the mediastinum—part II

Primary Thoracic Myxoid Variant of Extrarenal Rhabdoid Tumor in Childhood

Rhabdoid meningioma: Cytopathologic findings in cerebrospinal fluid

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