Malignant rhabdoid tumors (MRTs) are rare but lethal solid neoplasms that overwhelmingly affect infants and young children. While the central nervous system is the most common site of occurrence, tumors can develop at other sites, including the kidneys and soft tissues throughout the body. The anatomic site of involvement dictates tumor nomenclature and nosology. While the clinical and imaging manifestations of MRTs and other more common entities may overlap, there are some site-specific distinctive imaging characteristics. Irrespective of the site of occurrence, somatic and germline mutations in SMARCB1, and rarely in SMARCA4, underlie the entire spectrum of rhabdoid tumors. MRTs have a simple and remarkably stable genome but can demonstrate considerable molecular and biologic heterogeneity. Related neoplasms encompass an expanding category of phenotypically dissimilar (nonrhabdoid tumors driven by SMARC-related alterations) entities. US, CT, MRI, and fluorodeoxyglucose PET/CT or PET/MRI facilitate diagnosis, initial staging, and follow-up, thus informing therapeutic decision making. Multifocal synchronous or metachronous rhabdoid tumors occur predominantly in the context of underlying rhabdoid tumor predisposition syndromes (RTPSs). These autosomal dominant disorders are driven in most cases by pathogenic variants in SMARCB1 (RTPS type 1) and rarely by pathogenic variants in SMARCA4 (RTPS type 2). Genetic testing and counseling are imperative in RTPS. Guidelines for imaging surveillance in cases of RTPS are based on age at diagnosis. ©RSNA, 2024 Supplemental material is available for this article.

Aim: Atypical teratoid rhabdoid tumor (ATRT) is a rare and highly aggressive primary CNS neoplasm, predominantly observed in children. The use of autologous stem cell transplantation (ASCT) in pediatric ATRT has shown promise; however, its utility in adult ATRT remains unclear. Patients & methods: This study presents the case of an adult patient with ATRT who is in remission after ASCT and reviews the literature on ASCT in adults with ATRT. Four cases of ATRT in adults who underwent ASCT were identified, with pertinent data summarized. Results: All five patients survived longer than the historical average survival rate, four of whom had no clinical or radiographic evidence of disease at the final follow-up. Conclusion: Based on limited data, there may be a role for ASCT in the treatment of adults with ATRT.
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BACKGROUND: Malignant extrarenal rhabdoid tumor (MERT) is a rare and highly metastatic tumor, which is more than 75% of patients dying within 6 months of initial diagnosis, and it often leads to misdiagnosis and delayed treatment.
METHODS: This paper reports a 16-year-old girl who presented with the chief complaint of acute abdominal pain. She underwent laparoscopic exploration and excisional biopsy, then pathological examination and immunohistochemistry revealed \"extrarenal malignant rhabdomyoma.\" One month after operation, she died of intra-abdominal hemorrhage and multiple organ dysfunction.
CONCLUSIONS: MERT were often misdiagnosed and had a poor prognosis. The surgery and chemotherapy are usually beneficial to prolong the survival time of patients with MERT.

Primary atypical teratoid/rhabdoid tumors (AT/RTs) in the spinal canal are rare central nervous system (CNS) neoplasms that are challenging to diagnose and treat. To date, there has been no standard treatment regimen for these challenging malignant tumors. Thus, we conducted this research to explore potential prognostic factors and feasible treatment modalities for improving the prognosis of these tumors. Articles were retrieved from the PubMed, MEDLINE, and Embase databases, using the keywords \"atypical teratoid/rhabdoid tumor,\" \"rhabdoid tumor,\" \"spine,\" \"spinal,\" \"spinal neoplasm\", and \"spinal cord neoplasm.\" All eligible cases demonstrated SMARCB1-deficient expression validated by pathological examination. We collected and analyzed data related to clinical presentation, radiological features, pathological characteristics, treatment modalities and prognosis via Kaplan-Meier and Cox regression analyses. Thirty-six articles comprising 58 spinal AT/RT patients were included in the study. The median progression-free survival (PFS) and overall survival (OS) were 18 and 22 months, respectively. Kaplan-Meier analysis demonstrated significant survival improvements for OS in the nonmetastasis, male, radiotherapy and intrathecal chemotherapy groups as well as for PFS in the chemotherapy and radiotherapy groups. Multivariate analysis revealed that chemotherapy and radiotherapy were prognostic factors for improved PFS, and that intrathecal chemotherapy reduced the risk of mortality. Spinal AT/RTs are uncommon malignant entities with a dismal survival rate. Although our review is limited by variability between cases, there is some evidence revealing potential risk factors and the importance of systematic chemotherapy, intrathecal chemotherapy and radiotherapy in spinal AT/RT treatment modalities.

Extrarenal rhabdoid tumours (ERT) are highly aggressive tumours that are poorly responsive to standard cytotoxic chemotherapy and are associated with a grim prognosis. Primary ERT of the liver are most commonly observed in early childhood and exceptionally rare later in life.
We report the case of a 16-year-old male patient, presenting with flu-like symptoms after his second COVIDvaccination. During the work-up, a large solid liver lesion was incidentally discovered upon abdominal ultrasound examination. Pathological examination rendered the diagnosis of primary ERT of the liver, characterized by the loss of expression of INI-1 protein, encoded by the SMARCB1 gene. We summarized and discuss the existing literature by reviewing 53 pediatric and 6 adult cases, including the histological features treatment and outcomes of primary hepatic ERT.
Primary ERT of the liver are usually not associated with specific signs or symptoms, making the diagnosis very challenging. As ERT are associated with a high metastatic rate, delayed diagnoses lead to increased mortality, as complete resection is not possible in advanced-stage cases. Therefore, early diagnoses, enabling complete resection of the tumour are crucial to improve patient outcomes. Of interest, primary ERT of the liver, is associated with biallelic loss of the SMARCB1 (SWI/ SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) gene, a potential target for cancer therapeutics. This is, to our knowledge, the first case of a hepatic rhabdoid tumour treated with liver transplantation.

Malignant rhabdoid tumor of the liver is a rare, highly aggressive primary hepatic malignancy occurring primarily in infants. Establishing a definitive diagnosis is challenging due to its rarity, non-specific clinicoradiologic findings, and overlapping morphologic features. Herein, we present the cytomorphologic and immunocytochemical characteristics of a rare case of primary hepatic Malignant rhabdoid tumor (MRT) in an infant. A 5-month-old female child presented with progressively increasing firm mass in the upper abdomen, progressive pallor, sudden onset respiratory distress, and difficulty feeding. On examination, the child had massive, firm nodular hepatomegaly. Ultrasonography of the abdomen revealed a heterogeneously hypoechoic lesion in the left lobe of the liver. Serum alpha-fetoprotein levels were within normal limits. An ultrasound-guided fine-needle aspiration cytology (FNAC) from the liver mass showed predominantly dispersed large, markedly pleomorphic tumor cells with round to oval eccentrically placed nuclei, prominent nucleoli, and moderate cytoplasm. On immunocytochemistry, tumor cells showed positivity for vimentin, cytokeratin, and EMA and demonstrated a loss of INI1, confirming the diagnosis of MRT. The index report highlights the distinctive clinicopathological features of a hepatic malignant rhabdoid tumor along with the key differential diagnoses, which may pose a diagnostic conundrum. A high index of clinical suspicion and a thorough understanding of its cytomorphological and immunochemical characteristics are crucial for an accurate diagnosis.

BACKGROUND: Extradural malignant rhabdoid tumors of the spine are highly malignant and invasive tumors (WHO grade IV) with poor prognosis, most frequently occurring in young children before 2 years of age. Pain and motor deficit are the most common presenting signs.
METHODS: We report a case of a 2-year-old girl presenting with axial ataxia and paraparesis related to an extradural malignant rhabdoid tumor causing posterior thoracic spinal cord compression (D3-D6). She underwent two near-total removal of the tumor, adjuvant chemotherapy according to the Eu-Rhab protocol and proton beam therapy. She then developed multiple cranial nerve paresis (meningeal carcinomatosis) after 4 cycles of chemotherapy and died at 4.32 months of follow-up.
CONCLUSIONS: The role of the PET scan was essential to guide us to remove a residue, while two concomitant spinal MRIs were considered negative. We reviewed the 16 cases reported in the literature. Multiple surgeries and radiotherapy seem to be correlated with longer survival. No child younger than 2 years old had a documented survival higher than 4.32 months.

UNASSIGNED: Malignant rhabdoid tumor of kidney (MRTK) is almost exclusive to children. Only 10 cases of adult MRTK have been reported. Here, we present a case of MRTK in an adult patient and discuss its clinical findings, diagnostic challenges, and treatment outcome. We also perform literature review on this issue.
METHODS: Our patient was a 29-year-old woman presented with fever and hematuria. She also mentioned atypical teratoid/rhabdoid tumor of cerebellum in her deceased child. Initial diagnostic work up led to left partial nephrectomy with the pathology report of high grade undifferentiated tumor. Early tumor recurrence necessitated left radical nephrectomy with extensive excision of adjacent tissues. Pathology for second specimen considering disease course and family history was MRTK. Even though chemotherapy was administered, she died few months later due to multiple metastases.
UNASSIGNED: Although diagnosis is challenging in all 11 reported cases -including our case- of adult MRTK, immunohistochemistry (i.e., negative reaction for INI-1) in conjunction with clinical and radiological findings are the main tool to reach diagnosis. Treatment options are much more diverse, ranging from surgery to immunotherapy, tyrosine kinase inhibitors, chemotherapy, and combination of these modalities. Prognosis remains dismal with the mean survival period of 7 months.
CONCLUSIONS: Although extremely rare, MRTK might happen in adults. We report the first case of adult MRTK with positive family history of rhabdoid tumor of CNS, underscoring the importance of family history in reaching the diagnosis and highlighting the role of genetics in this rare disease.

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Atypical teratoid/rhabdoid tumors are rare and aggressive tumors that mainly affect children <3 years of age. Despite aggressive treatment, the overall survival rate for pediatric atypical teratoid/rhabdoid tumors remains poor. Due to their rarity, little is known regarding prognostic factors, and there is no official standard of treatment.
A comprehensive database search was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Search terms included \"atypical teratoid rhabdoid tumor\" and \"atypical (teratoid OR rhabdoid) tumor.\" Variables of interest included, but were not limited to, age, sex, tumor location, treatment modality, extent of resection, and overall survival.
The study included 294 articles and 936 patients. The median age of patients was 22 months. There was a significant difference in survival among patients receiving surgery compared with patients receiving nonoperative treatment (50.3 months vs. 28 months; P < 0.005). Extent of resection did not significantly improve survival (P = 0.832 for gross total resection, P = 0.650 for partial resection). Combination therapy with surgical resection, radiotherapy, and chemotherapy demonstrated the largest median overall survival (54.9 months) and significantly improved survival on multivariate analysis (hazard ratio, 0.48; 95% confidence interval, 0.23-0.97; P = 0.042).
The results of this study indicate that while surgery is a crucial treatment modality for pediatric atypical teratoid/rhabdoid tumors, the effect of extent of resection is unclear. Multimodal therapy including surgery, radiotherapy, and chemotherapy is effective in improving overall survival. Future studies should focus on using larger datasets to efficiently account for confounding factors and biases.