Rhabdoid tumor of the liver: Report of 6 pediatric cases treated at a single institute

Cornet, Maxime; Lambert, Guénolée de; Pariente, D.; Planchon, Julien Masliah; Guettier, Catherine; Martelli, Hélène; Guérin, Florent; Branchereau, Sophie

doi:10.1016/j.jpedsurg.2017.09.005

Cited by 13 publications

(34 citation statements)

References 10 publications

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“…In the published literature, most INI1-negative pediatric liver tumors that lack rhabdoid morphologic features have been initially misclassified as SCUD-HB [26,38,41]. In our study, four of six cases were initially diagnosed as SCUD-HB, due to the absence of rhabdoid tumor morphology in the biopsy and/or resection specimen.…”

Section: Discussionmentioning

confidence: 57%

“…The chart from this 2014 publication, listing INI1 negative SCUD-HB, still appears in the nomenclature guidelines published in 2019 by the College of American Pathologists (CAP) [25] and appears in the classification of hepatoblastoma published by the World Health Organization (WHO) in 2019 [40]. Based on our study and recent studies by Vokuhl et al [38] and Cornet et al [41], all SCUD-HB with loss of INI1 nuclear staining and small cell morphology are confirmed to have SMARCB1 deficiencies, supported with analysis utilizing FISH, multiplex ligation dependent probe amplification, and copy number loss of SMARCB1. Our study confirmed that SMARCB1 copy number loss is the defining feature of this tumor, with no other significant driver mutations detected utilizing our targeted 467 gene panel (see Supplementary Table S1 for list of genes included in panel).…”

Section: Elimination Of the Term Ini Negative Hbmentioning

confidence: 58%

“…All six cases showed a loss of INI1 expression by immunohistochemistry and SMARCB1 copy number loss by next generation sequencing, which confirmed the diagnosis of MRT in all six cases. Therefore, based on our findings and data from prior studies [38,41], small cell morphology predominates and rhabdoid morphology is often absent, or a minor component, and is not a robust criterion for diagnosis of MRT. Molecular characterization of INI1 negative tumors has previously been recommended to establish the diagnosis of MRT.…”

Section: Discussionmentioning

confidence: 69%

“…Molecular characterization of INI1 negative tumors has previously been recommended to establish the diagnosis of MRT. In our experience and others [41], the process of characterizing the molecular characteristics of the tumor results in a delay in establishing the diagnosis of MRT. Based on our molecular studies in the appropriate clinical context, liver tumors with small cell or rhabdoid morphology that are both negative for hepatocellular markers (Hep-par1 and Arginase) and INI1-negative are diagnostic of MRT.…”

Section: Discussionmentioning

confidence: 84%

“…Given that MRT is commonly misdiagnosed as a type of undifferentiated hepatoblastoma, standardized treatment regimens have been difficult to establish. Case reports have demonstrated that patients initially diagnosed and treated as hepatoblastomas (with cisplatin-heavy chemotherapy regimens) eventually died of disease progression [41].…”

Section: Treatment Of Liver Mrtmentioning

confidence: 99%

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Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma

Fazlollahi

Hsiao

Kochhar

et al. 2019

Cancers

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The clinical management of pediatric liver tumors involves stratification into risk groups. One previously defined, high-risk group of hepatoblastomas is the small cell undifferentiated variant. In light of molecular studies showing SMARCB1 deletion in these tumors, it is now recognized that most small cell, undifferentiated liver tumors represent an aggressive unrelated tumor-the malignant rhabdoid tumor (MRT). SMARCB1 is a member of the chromatin remodeling SWI/SNF complex and encodes the INI1 protein. The histologic diagnosis of MRT is currently based on INI1 negative immunoreactivity and the presence of rhabdoid morphology. INI1-negative small cell liver tumors lacking classic rhabdoid morphology are often misclassified as small cell undifferentiated hepatoblastomas (SCUD-HB), according to the current classification. Pediatric liver tumors diagnosed between 2003-2017 as SCUD-HB (four cases) or MRT (two cases) were identified from the Columbia University Pathology Department Archives. All tumors were associated with normal or low serum alpha fetoprotein levels, and showed an absence of immunohistochemical staining of hepatocellular markers (Hep-par1, Arginase) and loss of INI1 staining. Two cases were initially diagnosed as MRT, one with prominent rhabdoid morphology, the other with predominant small cell morphology. The remaining four cases with small cell morphology were classified as SCUD-HB. Ancillary molecular studies confirmed the loss of SMARCB1, supporting the diagnosis of MRT in all cases, proving morphology an unreliable criterion. It is critical to eliminate the term INI1-negative hepatoblastoma from the current classification scheme, and classify INI1-negative tumors as MRT, particularly since high-risk HB-chemotherapy regimens are not effective for treating MRT.Cancers 2019, 11, 1992 2 of 13 and radiation, and with high mortality [7][8][9]. MRT of the liver are uncommon, comprising less than 5% of malignant liver tumors in infants [7,10,11].Historically MRT was morphologically identified as a unique tumor type based on its characteristic "rhabdoid" cytologic features with abundant eosinophilic cytoplasm and eccentric nuclei [6]. In the era of molecular genomics, regardless of their anatomical site, the majority of MRT show loss of the protein product of the SMARCB1 gene, also known as BAF47/INI1/hSNF5 [12,13]. The SMARCB1 gene located on chromosome 22q11.2 is a core subunit of the ATP-dependent chromatin remodeling SWItch/Sucrose Non-Fermentable (SWI/SNF) complex [14][15][16][17]. The SWI/SNF complex controls gene transcription [18] and has a tumor suppressing function [19]. Studies have shown that biallelic inactivation of SMARCB1 seem to be both necessary and sufficient to cause cancer [11,16,20]. All rhabdoid tumors with homozygous mutations and/or deletions of SMARCB1 show loss of nuclear expression of INI1/BAF47 protein, that can be detected by immunohistochemistry [21,22].In the current classification of pediatric liver tumors, INI1-negative immunostaining in the absence of rhabdoid morpholo...

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Section: Discussionmentioning

confidence: 57%

Section: Elimination Of the Term Ini Negative Hbmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 84%

Section: Treatment Of Liver Mrtmentioning

confidence: 99%

See 3 more Smart Citations

Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma

Fazlollahi

Hsiao

Kochhar

et al. 2019

Cancers

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Cytologic features of malignant rhabdoid tumor of the liver: A case report and literature review

Liu

Bruner

Yang

2021

Diagnostic Cytopathology

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As one of the SMARCB1‐deficient tumors, malignant rhabdoid tumor (MRT) of the liver is a rare and aggressive malignancy, typically in young children below the age of 3 years. The diagnosis of MRT of the liver is challenging both clinically and pathologically due to the rarity of the tumor and misdiagnosing it as a hepatoblastoma is not uncommon. Although MRT of the liver and hepatoblastoma share some similar clinical and morphological features, their prognosis and the clinical management are significantly different. Therefore, an accurate diagnosis of MRT or hepatoblastoma is critical for patient care. Here we report a case of an 8‐month‐old female with MRT of the liver diagnosed by fine needle aspiration and core biopsy. The cytologic and histological features, the results of immunohistochemical studies, and clinical follow‐up information are presented. Recent literature regarding the diagnosis and treatment of this tumor were reviewed.

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Decoding the rhabdoid riddle in liver: A rare case of primary hepatic malignant rhabdoid tumor with a comprehensive literature review

Kerkar,

Gupta,

Azeez

et al. 2023

Diagnostic Cytopathology

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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.

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Rhabdoid tumor of the liver: Report of 6 pediatric cases treated at a single institute

Cited by 13 publications

References 10 publications

Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma

Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma

Cytologic features of malignant rhabdoid tumor of the liver: A case report and literature review

Decoding the rhabdoid riddle in liver: A rare case of primary hepatic malignant rhabdoid tumor with a comprehensive literature review

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