Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene

Han, Eunkyung; Kim, Jiyoon; Jung, Min-Jung; Chin, Susie; Lee, Sang Wook; Moon, Ahrim

doi:10.4132/jptm.2021.01.26

Cited by 3 publications

(4 citation statements)

References 18 publications

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“…The misperception of primary pathologic result has happened to our case as it was happened in the case of Han et al [ 5 ]. However, reviewing clinical outcome necessitated revision in pathological findings in both cases.…”

Section: Discussionmentioning

confidence: 81%

“…MRTK was first considered to be a rhabdomyosarcomatoid variant of Wilms tumor but as no myogenic differentiation has been found in MRTK, it was later considered a distinct type of malignant renal mass [ 4 ]. Today, immunohistochemistry (IHC) and genetic/molecular analysis play a key role in MRTK diagnosis as this tumor is characterized by the loss of INI1 protein expression due to alterations in the SMARCB1 gene [ 1 , 5 ]. All of the reported cases of adult MRTK used IHC to reach diagnosis and one case applied genetic/molecular analysis to confirm it as well ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature

Khaleghi mehr,

Abian,

Rahimi

et al. 2023

International Journal of Surgery Case Reports

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature

Khaleghi mehr,

Abian,

Rahimi

et al. 2023

International Journal of Surgery Case Reports

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“…However, MRTK is typically seen in young children with ∼80% of patients diagnosed in the first 2 years of life 6 . Rare (n=9) cases of malignant MRTK have been diagnosed in adults but only one of these cases had a SMARCB1 gene mutation 159 . MRTK usually shows loss of INI1 expression and the hallmark molecular feature of MRTK is biallelic inactivation of the hSNF5/INI1 tumor suppressor gene 160,161 .…”

Section: Sarcomatoid Renal Cell Carcinomamentioning

confidence: 99%

“…6 Rare (n = 9) cases of malignant MRTK have been diagnosed in adults but only one of these cases had a SMARCB1 gene mutation. 159 MRTK usually shows loss of INI1 expression and the hallmark molecular feature of MRTK is biallelic inactivation of the hSNF5/INI1 tumor suppressor gene. 160,161 High-grade urothelial carcinoma of the renal pelvis may rarely show rhabdoid differentiation.…”

Section: Differential Diagnosismentioning

confidence: 99%

Sarcomatoid and Rhabdoid Renal Cell Carcinoma

Adeniran,

Shuch,

Humphrey

2024

American Journal of Surgical Pathology

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Renal cell carcinoma (RCC) with sarcomatoid and rhabdoid morphologies has an aggressive biological behavior and a typically poor prognosis. The current 2022 WHO classification of renal tumors does not include them as distinct histologic entities but rather as transformational changes that may arise in a background of various distinct histologic types of RCC. The sarcomatoid component shows malignant spindle cells that may grow as intersecting fascicles, which is reminiscent of pleomorphic undifferentiated sarcoma. The rhabdoid cells are epithelioid cells with eccentrically located vesicular nuclei with prominent nucleoli and large intracytoplasmic eosinophilic inclusions. Studies have shown that RCCs with sarcomatoid and rhabdoid differentiation have distinctive molecular features. Sarcomatoid RCC harbors shared genomic alterations in carcinomatous and rhabdoid components, but also enrichment of specific genomic alterations in the sarcomatoid element, suggesting molecular pathways for development of sarcomatoid growth from a common clonal ancestor. Rhabdoid differentiation also arises through clonal evolution although less is known of specific genomic alterations in rhabdoid cells. Historically, treatment has lacked efficacy, although recently immunotherapy with PD-1/PD-L1/CTLA-4 inhibitors has produced significant clinical responses. Reporting of sarcomatoid and rhabdoid features in renal cell carcinoma is required by the College of American Pathologists and the International Collaboration on Cancer Reporting. This manuscript reviews the clinical, pathologic, and molecular features of sarcomatoid RCC and rhabdoid RCC with emphasis on the morphologic features of these tumors, significance of diagnostic recognition, the molecular mechanisms of tumorigenesis and differentiation along sarcomatoid and rhabdoid lines, and advances in treatment, particularly immunotherapy.

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Supratentorial ATRT in a young Infant: Expanding the diagnostic spectrum beyond medulloblastoma

Msheik,

Aoun,

Fares

2024

Interdisciplinary Neurosurgery

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Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene

Cited by 3 publications

References 18 publications

Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature

Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature

Sarcomatoid and Rhabdoid Renal Cell Carcinoma

Supratentorial ATRT in a young Infant: Expanding the diagnostic spectrum beyond medulloblastoma

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