Extra‐renal non‐cerebral rhabdoid tumours

Bourdeaut, Franck; Fréneaux, Paul; Thuille, Bénédicte; Bergeron, Christophe; Laurence, Valérie; Brugières, Laurence; Vérité, Cécile; Michon, Jean; Delattre, Olivier; Orbach, Daniel

doi:10.1002/pbc.21632

Cited by 79 publications

(64 citation statements)

References 51 publications

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“…At 6 months a PET scan was performed and the patient had no evidence of disease. [5,6,[10][11][12][13][14][15][16][17][18][19][20][21]. In a review of the English literature, 14 cases of primary MRT involving the soft tissues of the head and neck were identified [11][12][13][14][15][16][17][18][19][20][21] (Table 1).…”

Section: Case Reportmentioning

confidence: 99%

“…One study by Sultan et al [10] found that radiation therapy, age at diagnosis (with children under 2 showing the worst prognosis) and tumor stage to be the most significant prognostic factors. Reports of overall survival rates of patients with MRT range from 20 to 33 % [5,10]. Distant metastasis has been reported and is more common in renal MRT [5,10].…”

Section: Case Reportmentioning

confidence: 99%

“…Reports of overall survival rates of patients with MRT range from 20 to 33 % [5,10]. Distant metastasis has been reported and is more common in renal MRT [5,10]. Interestingly, increased survival rates have been noted in children who received radiation therapy following resection of their tumor [5,10].…”

Section: Case Reportmentioning

confidence: 99%

“…Molecular studies of MRT illustrate alterations of chromosome 22 which result in a lack of SMARCB1 (INI1/ BAF47/SNF5) gene expression [4][5][6][7][8]. This can also be demonstrated by immunohistochemical studies in which a loss of INI1 expression is seen within the lesional cells [4,8,9].…”

Section: Introductionmentioning

confidence: 99%

“…These sites include the mediastinum, retroperitoneum, leg, bladder, liver, lung, abdomen, chest, foot, pelvis, parotid gland, central nervous system, parapharyngeal space, tongue, and gingiva [5,6,[10][11][12][13]. Tumors exhibiting rhabdoid differentiation act in an aggressive fashion and are correlated with a poor prognosis [5,6,12,13].…”

Section: Introductionmentioning

confidence: 99%

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Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

Wetzel

Kerpel

Reich

et al. 2014

Head and Neck Pathol

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Malignant rhabdoid tumors (MRTs) are exceedingly rare lesions. To our knowledge, only 2 cases have been reported in the oral cavity, with both examples occurring in infants. The current case is the third reported case of MRT of the oral cavity and the first reported case to occur in an adult at this location. The following report describes the clinical, histologic and immunohistochemical features of this tumor.

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Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

Wetzel

Kerpel

Reich

et al. 2014

Head and Neck Pathol

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Fine‐needle aspiration of renal and extrarenal rhabdoid tumors

Thomson

Klijanienko

Couturier

et al. 2010

Cancer Cytopathology

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BACKGROUND:Rhabdoid tumors (RT) are rare, renal or extrarenal, high‐grade malignancies. The cytologic diagnosis may be confirmed if combined with genomic results. In the current study, the authors present the cytologic and ancillary techniques used to diagnose RT in their series of 20 tumors in 13 patients.METHODS:Clinical charts as well as cytologic, histologic, karyotypic, and molecular biology results were reviewed.RESULTS:Twelve fine‐needle aspirations (FNAs) were performed for primary diagnosis, 7 were to confirm a metastasis, and 1 was to confirm local recurrence. Primary tumors were in the kidney in 7 cases and 13 were extrarenal. Patient age ranged from 5 months to 26 years. There were 7 females and 6 males. FNAs were cell‐rich in 16 cases and cell‐poor in 4 cases and revealed a mix of atypical spindle‐shaped, round, rhabdoid, or epithelioid cells, singly or in clusters. Mitosis and necrosis occasionally were present. The original cytologic diagnosis was malignant in all cases. There were no unsatisfactory or false‐negative samples. In the 12 primary tumors, the preliminary FNA diagnosis was RT in 7 cases (58%), rhabdomyosarcoma in 4 cases (33%), and malignant peripheral nerve sheath tumor in 1 case (8%). Karyotypes were available in 6 cases, 3 of which demonstrated chromosome 22 changes. Fluorescence in situ hybridization revealed loss of probe signals for the SMARCB1 gene locus in 5 cases; DNA sequence analysis performed in 9 cases revealed deletions in codons of the SMARCB1 gene in 7 cases and a mutation in 2 cases.CONCLUSIONS:The primary diagnosis of RT is possible on FNA. In the current study, 12 of 13 cases were diagnosed by FNA with a combination of clinical information, immunocytochemistry, and molecular analysis. Cancer (Cancer Cytopathol) 2010;. © 2010 American Cancer Society

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Cytomorphological and immunohistochemical features of renal and extrarenal rhabdoid tumors

Priya

Sadasivan

Okaly

et al. 2021

Diagnostic Cytopathology

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Background Rhabdoid tumors are rare, highly lethal neoplasms characterized by alterations of SMARCB1 gene in chromosome 22, which occurs in infants and children. Fine needle aspiration (FNA) is an effective technique to diagnose this tumor when combined with Immunohistochemistry (IHC) and molecular genetics. In this study, we describe four cases of renal and extra‐renal rhabdoid tumor of which three cases were diagnosed on FNA with IHC. Materials and methods The study includes four children with renal and extrarenal rhabdoid tumor retrieved from cytology archives. FNA was done with cell block, IHC, and cytogenetics. The cytomorphology with ancillary studies were reviewed along with histopathology which was available in 3 out of 4 cases. Results All the four cases had similar cytomorphologic features comprising of large cells having vesicular nuclei which can be central or eccentric with prominent nucleoli and abundant pale cytoplasm. Few cells had intracytoplasmic hyaline inclusion. Cell block with IHC confirmed the diagnosis in three cases. One case in which cell block could not be made the diagnosis was confirmed on biopsy with IHC. Conclusion Rhabdoid tumors are uncommon but aggressive neoplasms with poor prognosis. Our study highlights that they can be diagnosed accurately on FNA cytomorphology when combined with IHC on cell block.

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Extra‐renal non‐cerebral rhabdoid tumours

Abstract: ERRTs share the same chemosensitivity, early recurrence, and poor prognosis as renal and cerebral RTs. No chemotherapy regimen demonstrates a superior response.

Cited by 79 publications

References 51 publications

Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

Fine‐needle aspiration of renal and extrarenal rhabdoid tumors

Cytomorphological and immunohistochemical features of renal and extrarenal rhabdoid tumors

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