Synchronous Central Nervous System Atypical Teratoid/Rhabdoid Tumor and Malignant Rhabdoid Tumor of the Kidney: Case Report of a Long-Term Survivor and Review of the Literature

Arja, Mohammad H Abu; Patel, Priyal; Shah, Summit; Auletta, Jeffery J.; Meyer, Erin; Conley, Suzanne; Aldrink, Jennifer H.; Pindrik, Jonathan; AbdelBaki, Mohamed S.

doi:10.1016/j.wneu.2017.11.158

Cited by 8 publications

(6 citation statements)

References 34 publications

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“…Patients with RTPS are more likely to develop tumors at a younger age and have a shorter survival than children with sporadic tumors 1,3,4 . On the other hand, there are several reports of RTPS with a favorable prognosis and RTPS with a late onset 16‐19 . Kordes and colleagues reported that four children with rhabdoid tumors harboring truncating heterozygous SMARCB1/INI1 germline mutations who received intensive multimodality therapy demonstrated favorable outcomes, with a mean event‐free survival of 7 years 16 .…”

Section: Discussionmentioning

confidence: 99%

“…One patient developed upper lip myoepithelioma with the loss of SMARCB1 protein expression 22 years after surgery and chemo‐ and radiotherapy for AT/RT. Abu Arja and colleagues reported a long‐term survivor with AT/RT and synchronous MRT of the kidney 18 . Their patient was a 7‐week‐old female who underwent an intensive multimodal approach.…”

Section: Discussionmentioning

confidence: 99%

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Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

Fukushima

Yamasaki

Sakaida

et al. 2020

Pathology International

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We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

Fukushima

Yamasaki

Sakaida

et al. 2020

Pathology International

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“…All patients died of tumor progression. A review from our group in 2018 of concurrent ATRT and EERTs described 32 cases; 20 were positive for SMARCB1 germline mutations 31 . The most common synchronous site was the kidney, and OS was 13%.…”

Section: Clinical Presentation and Outcomes Of Rtpsmentioning

confidence: 99%

“…A review from our group in 2018 of concurrent ATRT and EERTs described 32 cases; 20 were positive for SMARCB1 germline mutations. 31 The most common synchronous site was the kidney, and OS was 13%. Four long-term survivors (mean EFS of 7 years) had tumors all located in extracranial sites, with RTK in three; all four received high-dose chemotherapy (HDC) with autologous stem cell rescue (ASCR) and gross total resection (GTR) of at least one tumor (two had GTR of both), and three patients received irradiation.…”

Section: Clinical Presentation and Outcomes Of Rtpsmentioning

confidence: 99%

Rhabdoid tumor predisposition syndrome: A historical review of treatments and outcomes for associated pediatric malignancies

Andres,

Huang,

Shatara

et al. 2024

Pediatric Blood & Cancer

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Rhabdoid tumor predisposition syndrome (RTPS) is a rare disorder associated with malignant rhabdoid tumor of the kidney (RTK), atypical teratoid rhabdoid tumor (ATRT), and/or other extracranial, extrarenal rhabdoid tumors (EERT), and these pediatric malignancies are difficult to treat. Presently, most of the information regarding clinical manifestations, treatment, and outcomes of rhabdoid tumors comes from large data registries and case series. Our current understanding of treatments for patients with rhabdoid tumors may inform how we approach patients with RTPS. In this manuscript, we review the genetic and clinical features of RTPS and, using known registry data and clinical reports, review associated tumor types ATRT, RTK, and EERT, closing with potential new approaches to treatment. We propose collaborative international efforts to study the use of SMARC (SWI/SNF‐related, matrix‐associated, actin‐dependent regulator of chromatin)‐targeting agents, high‐dose consolidative therapy, and age‐based irradiation of disease sites in RTPS.

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“…Those who carry a germline mutation in either SNF5 or BRG-1 tend to be at greater risks of developing single or multifocal rhabdoid tumors. This inherited condition is known as the rhabdoid tumor predisposition syndrome (RTPS) (18)(19)(20). However, synchronous or metachronous multifocal cases of rhabdoid tumors are so scarce that details of the underlying mechanisms for the differential tumorigenesis among multiple primary sites remain unclear.…”

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confidence: 99%

Novel Two MRT Cell Lines Established from Multiple Sites of a Synchronous MRT Patient

et al. 2020

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Synchronous Central Nervous System Atypical Teratoid/Rhabdoid Tumor and Malignant Rhabdoid Tumor of the Kidney: Case Report of a Long-Term Survivor and Review of the Literature

Cited by 8 publications

References 34 publications

Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

Rhabdoid tumor predisposition syndrome: A historical review of treatments and outcomes for associated pediatric malignancies

Novel Two MRT Cell Lines Established from Multiple Sites of a Synchronous MRT Patient

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