The Saga of Rhabdoid Cells and Rhabdoid Tumors

1991 ◽  
Vol 15 (6) ◽  
pp. iii-v ◽  
Author(s):  
Manuel Sobrinho-Simöes
Keyword(s):  
Rhabdoid Cells ◽  
Rhabdoid Tumors

Malignant Melanoma With a Rhabdoid Phenotype: Histologic, Immunohistochemical, and Ultrastructural Study of a Case and Review of the Literature

2004 ◽  
Vol 128 (6) ◽  
pp. 686-688
Author(s):  
Jared J. Abbott ◽  
Robin H. Amirkhan ◽  
Mai P. Hoang
Keyword(s):  
Malignant Melanoma ◽  
Tumor Cells ◽  
Rare Variant ◽  
Smooth Muscle Actin ◽  
S100 Protein ◽  
Metastatic Lesion ◽  
Primary Tumor Site ◽  
Cytoplasmic Inclusions ◽  
Rhabdoid Cells ◽  
Rhabdoid Tumors

Abstract Malignant melanoma is known to display tremendous histologic diversity. One rare variant is the rhabdoid phenotype, so called because of the appearance of cells resembling rhabdomyoblasts seen in malignant rhabdoid tumors of the kidney. We present the histologic, immunohistochemical, and ultrastructural features of a malignant melanoma composed entirely of rhabdoid cells. A 62-year-old man presented with a 6.5-cm lung mass. Although presumed to be a metastatic lesion, extensive workup failed to reveal a primary tumor site. Histologic sections showed a mass composed entirely of polygonal neoplastic cells with prominent nucleoli and large hyaline cytoplasmic inclusions. The tumor cells were strongly immunoreactive with S100 protein, vimentin, and CD56, and were focally reactive with Mart-1. Tumor cells were negative for Melan-A, tyrosinase, HMB-45, AE1/AE3, cytokeratin (CK) 7, CK8/ 18, CK20, CK903, CAM 5.2, epithelial membrane antigen, smooth muscle actin, desmin, leukocyte common antigen, Bcl-2, CD3, CD20, CD30, CD138, κ and λ light chains, CD68, CD34, factor VIII, synaptophysin, and glial fibrillary acidic protein. Electron microscopy showed cytoplasmic whorls of intermediate filaments containing entrapped rough endoplasmic reticulum, mitochondria, and lipid. Recognition of this rare variant of malignant melanoma is important in the evaluation of tumors with rhabdoid morphology.

scholarly journals Infantile Extracranial Rhabdoid Tumor of the Scalp

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Sura Al Rawabdeh ◽  
Deifallah Alsharari ◽  
Hayat Khasawneh ◽  
Ola M. Al Waqfi ◽  
Qamar Yaser Malabeh ◽  
...  
Keyword(s):  
Rhabdoid Tumor ◽  
Rare Tumor ◽  
Male Baby ◽  
Multiple Organs ◽  
First Case ◽  
Rhabdoid Cells ◽  
Chemotherapeutic Treatment ◽  
Rhabdoid Tumors ◽  
To Receive ◽  
Scalp Mass

Extracranial rhabdoid tumor is a rare tumor that can originate in multiple organs, and it is most commonly seen in the kidneys. This tumor has a grave prognosis. We report to the best of our knowledge the first case of infantile scalp extracranial rhabdoid tumor in a 6-month-old male baby who presented with a right parietal scalp mass since the age of 1 month. This mass was initially diagnosed as scalp hemangioma based on clinical and imaging findings. However, this mass was growing fast which necessitated excision. Pathologic examination after excision showed a malignant tumor composed of sheets of rhabdoid cells. Immunohistochemically, this tumor tested positive for vimentin, CD 99, glypican-3, synaptopysin, WT-1, CK, and EMA. INI-1 immunostain was lost in the tumor cells. Subsequently, this tumor was pathologically diagnosed as extracranial scalp rhabdoid tumor. After tumor excision, the patient was referred to pediatric oncology to receive chemotherapy. Experience with scalp extracranial rhabdoid tumors is limited. However, this tumor in other organs carries a grave prognosis. Although scalp extracranial rhabdoid tumor is an extremely rare tumor, it should be kept in mind in the differential diagnosis of infantile scalp masses given the need of combined surgical and chemotherapeutic treatment.

scholarly journals Rhabdoid choroid plexus carcinoma: a rare histological type

2007 ◽  
Vol 65 (3a) ◽  
pp. 705-709 ◽  
Author(s):  
Martha Lilia Tena-Suck ◽  
Juan Luis Gómez-Amador ◽  
Alma Ortiz-Plata ◽  
C. Salina-Lara ◽  
Daniel Rembao-Bojórquez ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Choroid Plexus ◽  
Smooth Muscle Actin ◽  
Growth Patterns ◽  
Choroid Plexus Carcinoma ◽  
Central Nervous System Neoplasms ◽  
Rhabdoid Cells ◽  
Rhabdoid Tumors ◽  
Nervous System Neoplasms

Primary central nervous system atypical teratoid/rhabdoid tumors mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor, meduloblastoma and choroid plexus carcinoma, but present different biological behaviors. We present the case of an 18 year-old man who presented headache, vomiting and ataxia. CT-scan and MRI revealed a posterior fossa tumor. A gross total resection was performed. An intraoperative study showed papillary-like tumors with large cells and mitotic features. Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells with papillary features and rhabdoid cells. Immunohistochemically, these rhabdoid cells were positive for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, S-100 protein, and glial fibrillary acidic protein. Electro-microscopically, the typical rhabdoid cells contained whorled bundles of intermediate filaments in their cytoplasm. A rhabdoid tumor is a clinicalpathological entity and emphasizes the necessity to distinguish this unique tumor from other pediatric central nervous system neoplasms. Cytopathological features, immunohistochemistry and electro-microscopy differential diagnoses are discussed.

Comparative integrative analysis of primary and relapsed atypical teratoid/rhabdoid tumors (AT/RTs)

2018 ◽  
Author(s):  
T Holsten ◽  
M Alawi ◽  
M Spohn ◽  
M Hasselblatt ◽  
C Habeler ◽  
...  
Keyword(s):  
Integrative Analysis ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

2021 ◽  
Author(s):  
Mariangela Sabatella ◽  
Tuomo Mantere ◽  
Esmé Waanders ◽  
Kornelia Neveling ◽  
Arjen R. Mensenkamp ◽  
...  
Keyword(s):  
Genome Mapping ◽  
Retrotransposon Insertion ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

2021 ◽  
pp. 109352662098649
Author(s):  
Tiffany G Baker ◽  
Michael J Lyons ◽  
Lee Leddy ◽  
David M Parham ◽  
Cynthia T Welsh
Keyword(s):  
Epithelioid Sarcoma ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Diagnostic Challenge ◽  
Patient Demographics ◽  
Immunohistochemical Markers ◽  
Genetic Aberration ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

scholarly journals ATRT-13. DIFFERENT CELLS OF ORIGIN PAVE THE WAY FOR MOLECULAR HETEROGENEITY IN RHABDOID TUMORS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii278-iii278
Author(s):  
Monika Graf ◽  
Marta Interlandi ◽  
Natalia Moreno ◽  
Dörthe Holdhof ◽  
Viktoria Melcher ◽  
...  
Keyword(s):  
Single Cell ◽  
Expression Patterns ◽  
Time Frame ◽  
Precursor Cells ◽  
Genetically Engineered ◽  
Molecular Heterogeneity ◽  
Loss Of Function ◽  
Cellular Origin ◽  
Cells Of Origin ◽  
Rhabdoid Tumors

Abstract Rhabdoid tumors (RT) are rare but highly aggressive pediatric neoplasms. These tumors carry homozygous loss-of-function alterations of SMARCB1 in almost all cases with an otherwise low mutational load. RT arise at different intracranial (ATRT) as well as extracranial (MRT) anatomical sites. Three main molecular subgroups (ATRT-SHH, ATRT-TYR, ATRT-MYC) have been characterized for ATRT which are epigenetically and clinically diverse, while MRT show remarkable similarities with ATRT-MYC distinct from ATRT-SHH and ATRT-TYR. Even though there are hypotheses about various cells of origin among RT subgroups, precursor cells of RT have not yet been identified. Previous studies on the temporal control of SMARCB1 knockout in genetically engineered mouse models have unveiled a tight vulnerable time frame during embryogenesis with regard to the susceptibility of precursor cells to result in RT. In this study, we employed single-cell RNA sequencing to describe the intra- and intertumoral heterogeneity of murine ATRT-SHH and -MYC as well as extracranial MYC tumor cells. We defined subgroup-specific tumor markers for all RT classes but also observed a notable overlap of gene expression patterns in all MYC subgroups. By comparing these single-cell transcriptomes with available single-cell maps of early embryogenesis, we gained first insights into the cellular origin of RT. Finally, unsupervised clustering of published human RT methylation data and healthy control tissues confirmed the existence of different cells of origin for intracranial SHH tumors and MYC tumors independent of their anatomical localizations.

scholarly journals ATRT-14. MACROPHAGE-TUMOR CELL INTERACTION PROMOTES ATRT PROGRESSION AND CHEMORESISTANCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii278-iii278
Author(s):  
Viktoria Melcher ◽  
Monika Graf ◽  
Marta Interlandi ◽  
Natalia Moreno ◽  
Flavia W de Faria ◽  
...  
Keyword(s):  
Tumor Cell ◽  
Tumor Cells ◽  
Chemotherapy Resistance ◽  
Cell Communication ◽  
Xenograft Model ◽  
Cell Interaction ◽  
Immunofluorescent Staining ◽  
Genetic Traits ◽  
Rhabdoid Tumors

Abstract Atypical teratoid/rhabdoid tumors (ATRT) are pediatric brain neoplasms that are known for their heterogeneity concerning pathophysiology and outcome. The three genetically rather uniform but epigenetically distinct molecular subgroups of ATRT alone do not sufficiently explain the clinical heterogeneity. Therefore, we examined the tumor microenvironment (TME) in the context of tumor diversity. By using multiplex-immunofluorescent staining and single-cell RNA sequencing (scRNA-seq) we unveiled the pan-macrophage marker CD68 as a subgroup-independent negative prognostic marker for survival of ATRT patients. ScRNA-seq analysis of murine ATRT-SHH, ATRT-MYC and extracranial RT (eRT) provide a delineation of the TME, which is predominantly infiltrated by myeloid cells: more specifically a microglia-enriched niche in ATRT-SHH and a bone marrow-derived macrophage infiltration in ATRT-MYC and eRT. Exploring the cell-cell communication of tumor cells with tumor-associated immune cells, we found that Cd68+ tumor-associated macrophages (TAMs) are central to intercellular communication with tumor cells. Moreover, we uncovered distinct tumor phenotypes in murine ATRT-MYC that share genetic traits with TAMs. These intermediary cells considerably increase the intratumoral heterogeneity of ATRT-MYC tumors. In vitro co-culture experiments recapitulated the capability of ATRT-MYC cells to interchange cell material with macrophages extensively, in contrast to ATRT-SHH cells. We found that microglia are less involved in the exchange of information with ATRT cells and that direct contact is a prerequisite for incorporation. A relapse xenograft model implied that intermediary cells are involved in the acquisition of chemotherapy resistance. We show evidence that TAM-tumor cell interaction is one mechanism of chemotherapy resistance and relapse in ATRT.

scholarly journals Low-Dose Histone Deacetylase Inhibitor Treatment Leads to Tumor Growth Arrest and Multi-Lineage Differentiation of Malignant Rhabdoid Tumors

2016 ◽  
Vol 22 (14) ◽  
pp. 3560-3570 ◽  
Author(s):  
Andrea Muscat ◽  
Dean Popovski ◽  
W. Samantha N. Jayasekara ◽  
Fernando J. Rossello ◽  
Melissa Ferguson ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Histone Deacetylase ◽  
Histone Deacetylase Inhibitor ◽  
Low Dose ◽  
Growth Arrest ◽  
Lineage Differentiation ◽  
Deacetylase Inhibitor ◽  
Rhabdoid Tumors ◽  
Inhibitor Treatment

scholarly journals ATRT-04. LATE DEVELOPMENT OF METACHRONOUS ATYPICAL TERATOID/RHABDOID TUMORS (AT/RTS) OR MALIGNANT RHABDOID TUMOR (MRT) IN THREE PATIENTS WITH GERMLINE SMARCB1 MUTATIONS

2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i27-i28 ◽  
Author(s):  
Anne Bendel ◽  
Helen Toledano ◽  
Ian Cohen ◽  
Susan Chi ◽  
Jaclyn Biegel
Keyword(s):  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Late Development ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors
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