2,345 results match your criteria Malignant Rhabdoid Tumor


Anaplastic sarcoma of the kidney: Case report and literature review.

Ci Ji Yi Xue Za Zhi 2019 Apr-Jun;31(2):129-132

Department of Pathology, Ditmanson Medical Foundation, Chiayi Christian Hospital, Chiayi, Taiwan.

We present a case of a 22-year-old female with gross hematuria for 1 month. A 9.5-cm tumor was found at her left kidney. Read More

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http://dx.doi.org/10.4103/tcmj.tcmj_194_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450149PMC

[Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1].

Arkh Patol 2019 ;81(2):36-42

Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia.

The paper describes a clinical case of atypical teratoid/rhabdoid tumor with preserved INI1 expression and SMARCA4 gene mutations in an 8-month-old girl. Genome-wide DNA methylation, hierarchical clustering, and next-generation sequencing were used to make a tumor diagnosis. However, BRG1 immunohistochemical examination may be recommended in the routine practice of diagnosis and study of childhood CNS malignant tumors. Read More

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http://dx.doi.org/10.17116/patol20198102136DOI Listing
January 2019
1 Read

Atypical teratoid/rhabdoid sellar tumor in an adult with a familial history of a germline SMARCB1 mutation: case report and review of the literature.

World Neurosurg 2019 Apr 17. Epub 2019 Apr 17.

Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Adult sellar ATRT is a rare diagnosis that has recently been shown to be a clinicopathologically and genetically distinct variant of ATRT occurring almost exclusively in middle-aged females. While up to one third of pediatric ATRT is caused by a familial syndrome, no previous cases of a familial adult sellar ATRT have been reported. We present the first case report of a familial germline mutation causing adult sellar ATRT and a literature review of 29 previously published cases of sporadic adult sellar ATRT. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.04.083DOI Listing

JAK2/PD-L1/PD-L2 (9p24.1) amplifications in renal cell carcinomas with sarcomatoid transformation: implications for clinical management.

Mod Pathol 2019 Apr 17. Epub 2019 Apr 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Amplifications of JAK2, PD-L1, and PD-L2 at 9p24.1 lead to constitutive expression of PD-L1. This, coupled with JAK2-activation dependent upregulation of PD-L1 and adaptive/induced expression leads to higher tumor PD-L1 expression and immune evasion. Read More

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http://dx.doi.org/10.1038/s41379-019-0269-xDOI Listing
April 2019
6.187 Impact Factor

Role of early and aggressive post-operative radiation therapy in improving outcome for pediatric central nervous system atypical teratoid/rhabdoid tumor.

Childs Nerv Syst 2019 Apr 13. Epub 2019 Apr 13.

Division of Radiation Oncology, Department of Oncology, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Road, Beitou District, Taipei, 112, Taiwan, Republic of China.

Purpose: The purpose of the study is to evaluate possible prognostic factors and optimal management for pediatric atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS).

Methods: Twenty-eight pediatric patients with CNS AT/RT who were treated with radiation therapy (RT) as part of multimodality treatment regimens at a single institution (1996-2015) were reviewed. Survival outcomes were analyzed in relation to possible prognostic factors. Read More

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http://dx.doi.org/10.1007/s00381-019-04126-yDOI Listing
April 2019
1.163 Impact Factor

Frozen Cytology of Meningeal Malignant Solitary Fibrous Tumor/Hemangiopericytoma.

J Pathol Transl Med 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurosurgery, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.

A 51-year-old woman presented with severe dizziness. The brain MRI revealed a 5.5 cm multiloculated mass with a thick rim in the left temporal lobe. Read More

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http://dx.doi.org/10.4132/jptm.2019.03.20DOI Listing

Applications of molecular neuro-oncology - a review of diffuse glioma integrated diagnosis and emerging molecular entities.

Diagn Pathol 2019 Apr 9;14(1):29. Epub 2019 Apr 9.

Knight Diagnostic Laboratories and Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, 97239, USA.

Insights into the molecular underpinnings of primary central nervous system tumors have radically changed the approach to tumor diagnosis and classification. Diagnostic emphasis has shifted from the morphology of a tumor under the microscope to an integrated approach based on morphologic and molecular features, including gene mutations, chromosomal copy number alterations, and gene rearrangements. In 2016, the World Health Organization provided guidelines for making an integrated diagnosis that incorporates both morphologic and molecular features in a subset of brain tumors. Read More

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http://dx.doi.org/10.1186/s13000-019-0802-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457044PMC
April 2019
1 Read

[SCCOHT/ovarian rhabdoid tumor: A case report].

Ann Pathol 2019 Mar 27. Epub 2019 Mar 27.

Service de pathologie, institut Curie-Paris, 26, rue d'Ulm, 75248 Paris, France; Inserm U1245, service de pathologie, centre Henri Becquerel, UniRouen Normandie université, rue d'Amiens 76000 Rouen, France.

We report the case of a 22-year-old patient with acute abdominopelvic pain. The diagnosis of hypercalcemic small cell carcinoma (SCCOHT)/ovarian rhabdoid tumor has been made. Small cell carcinoma of hypercalcemic type is a rare and aggressive tumor that occurs in young women. Read More

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http://dx.doi.org/10.1016/j.annpat.2019.02.005DOI Listing

Clinical and Prognostic Characteristics of 53 Cases of Extracranial Malignant Rhabdoid Tumor in Children. A Single-Institute Experience from 2007 to 2017.

Oncologist 2019 Mar 26. Epub 2019 Mar 26.

Department of Surgical Oncology, Beijing Children's Hospital, National Center for Children's Health, Beijing, People's Republic of China

Background: The aim of this study is to add to the current knowledge regarding extracranial malignant rhabdoid tumor (MRT), a rare and highly aggressive tumor that occurs most commonly in infants and young children.

Patients And Methods: A retrospective medical record review was conducted on 53 patients with pathologically confirmed MRT in Beijing Children's Hospital between January 2007 and October 2017.

Results: Fifty-three patients were diagnosed with MRT at a median age of 16 months, including 32 cases of malignant rhabdoid tumor of the kidney (MRTK) and 21 cases of extrarenal extracranial rhabdoid tumor (EERT). Read More

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http://theoncologist.alphamedpress.org/lookup/doi/10.1634/th
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http://dx.doi.org/10.1634/theoncologist.2018-0416DOI Listing
March 2019
8 Reads

Pediatric Renal Neoplasms:: MR Imaging-Based Practical Diagnostic Approach.

Magn Reson Imaging Clin N Am 2019 May;27(2):279-290

Department of Radiology, Seattle Children's, University of Washington, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA.

Pediatric renal tumors may be malignant or benign. Wilms tumor, the most common malignant pediatric renal tumor, arises sporadically or with various syndromes. Renal cell carcinoma typically presents in older children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10649689193000
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http://dx.doi.org/10.1016/j.mric.2019.01.006DOI Listing
May 2019
8 Reads

A BAFfling liver aspirate: Metastatic high grade SMARCA4 deficient undifferentiated gastroesophageal junction carcinoma masquerading as a hematolymphoid malignancy.

Diagn Cytopathol 2019 Mar 21. Epub 2019 Mar 21.

Department of Pathology, Loyola University Medical Center, Maywood, Illinois.

Undifferentiated malignant SMARCA4-deficient neoplasms are rare, recently characterized, high grade, potentially lethal malignancies. Such tumors are characterized by the loss of BRG1 encoded by SMARCA4, a key component of the Switch/Sucrose Non-Fermenting (SWI/SNF) chromatin remodeling complex. As this complex, also referred as BAF (BRG1/BRM associated factors) complex, is involved in the epigenetic control of hundreds of genes, including those involved in lineage-specific differentiation, BAF-deficient tumors, show minimal or no differentiation and are difficult to classify. Read More

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http://dx.doi.org/10.1002/dc.24174DOI Listing
March 2019
2 Reads

Survival Benefit with Gross Total Resection and Adjuvant Radiotherapy in Childhood Atypical Teratoid/Rhabdoid Tumors: Results of a Single-Center Cohort of 27 Cases.

Turk Neurosurg 2019 Feb 4. Epub 2019 Feb 4.

Hacettepe University, Faculty of Medicine, Department of Neurosurgery, Ankara, Turkey.

Aim: To share a single center experience with 27 atypical teratoid/rhabdoid tumor (AT/RT) cases, and to determine the effect of gross total tumor resection and other clinical characteristics on the overall survival rate of AT/RT.

Material And Methods: We included 27 patients-with a histopathologically confirmed primary intracranial childhood AT/ RT-who were operated in our clinic between January 2000 and December 2017. Age, sex, tumor location, disseminated disease, the presence of hydrocephalus, symptom duration till diagnosis, the extent of resection, and adjuvant radiotherapy were evaluated for their influence on overall survival. Read More

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http://dx.doi.org/10.5137/1019-5149.JTN.25406-18.1DOI Listing
February 2019
1 Read

Immunotherapeutic Targeting of GPC3 in Pediatric Solid Embryonal Tumors.

Front Oncol 2019 26;9:108. Epub 2019 Feb 26.

Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, United States.

Glypican 3 (GPC3) is a heparan sulfate proteoglycan and cell surface oncofetal protein which is highly expressed on a variety of pediatric solid embryonal tumors including the majority of hepatoblastomas, Wilms tumors, rhabdoid tumors, certain germ cell tumor subtypes, and a minority of rhabdomyosarcomas. Via both its core protein and heparan sulfate side chains, GPC3 activates the canonical Wnt/β-catenin pathway, which is frequently overexpressed in these malignancies. Loss of function mutations in lead to Simpson-Golabi-Behmel Syndrome, an X-linked overgrowth condition with a predisposition to GPC3-expressing cancers including hepatoblastoma and Wilms tumor. Read More

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http://dx.doi.org/10.3389/fonc.2019.00108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401603PMC
February 2019
4 Reads

INI1/SMARCB1-Deficient Carcinoma (Rhabdoid Tumor) of the Lacrimal Gland.

Ophthalmic Plast Reconstr Surg 2019 Mar/Apr;35(2):e41-e43

Wills Eye Hospital, Philadelphia, Pennsylvania, U.S.A.

Integrase interactor 1 (INI1) is a tumor suppressor gene that is ubiquitously expressed in all nucleated cells. The loss of INI1 protein activity was first demonstrated in aggressive pediatric tumors, including atypical teratoid/rhabdoid (AT/RT) tumor of the central nervous system and malignant rhabdoid tumor of the kidney. Subsequently, INI1 deficiency was discovered in other pediatric and some adult neoplasms. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001311DOI Listing

Renal Medullary Carcinoma.

Arch Pathol Lab Med 2019 Mar 11. Epub 2019 Mar 11.

From the Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston.

Renal medullary carcinoma, also referred to as the seventh sickle cell nephropathy, typically affects young African Americans with sickle cell trait, or, less frequently, patients with sickle cell disease. The existence of renal medullary carcinoma without a concomitant hemoglobinopathy is a topic of controversy. The typical patient is a young male of African or Mediterranean descent, with hematuria and/or flank pain. Read More

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http://dx.doi.org/10.5858/arpa.2017-0492-RSDOI Listing
March 2019
3 Reads

CROCC-mutated rhabdoid colorectal carcinoma showing in intercellular spaces lamellipodia and cellular projections revealed by electron microscopy.

Virchows Arch 2019 Mar 10. Epub 2019 Mar 10.

Department of Sciences and Technologies, University of Sannio, Benevento, Italy.

Background: Rhabdoid colorectal carcinoma (RC) is a rare lesion localized to the proximal colon of patients with a mean age at diagnosis of around 70 years. This tumor shows an aggressive behavior with an overall survival period shorter than 12 months. The diagnostic hallmark is the presence of rhabdoid cells. Read More

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http://dx.doi.org/10.1007/s00428-019-02554-4DOI Listing
March 2019
1 Read

Human Pluripotent Stem Cell-Derived Tumor Model Uncovers the Embryonic Stem Cell Signature as a Key Driver in Atypical Teratoid/Rhabdoid Tumor.

Cell Rep 2019 Mar;26(10):2608-2621.e6

Division of Stem Cell Pathology, Center for Experimental Medicine and Systems Biology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan; Department of Life Science Frontiers, Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan; AMED-CREST, AMED 1-7-1 Otemachi, Chiyoda-ku, Tokyo 100-0004, Japan. Electronic address:

Atypical teratoid/rhabdoid tumor (AT/RT), which harbors SMARCB1 mutation and exhibits a characteristic histology of rhabdoid cells, has a poor prognosis because of the lack of effective treatments. Here, we establish human SMARCB1-deficient pluripotent stem cells (hPSCs). SMARCB1-deficient hPSC-derived neural progenitor-like cells (NPLCs) efficiently give rise to brain tumors when transplanted into the mouse brain. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.02.009DOI Listing
March 2019
2 Reads

The impact on outcomes by using thiotepa in tandem transplant for pediatric high-risk embryonal brain tumors.

J Chin Med Assoc 2019 Feb;82(2):148-154

Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.

Background: Despite aggressive treatment including surgery, radiotherapy, and adjuvant chemotherapy, the outcome of pediatric high-risk embryonal brain tumors remains poor; especially in young children, in whom early radiotherapy inevitably brings significant long-term morbidities. Single or tandem autologous stem cell transplant has been reported to improve outcomes; but optimal use is not well defined.

Methods: Pediatric patients with high-risk embryonal brain tumors who underwent tandem transplant as consolidation from August 2011 to December 2017 were included. Read More

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http://dx.doi.org/10.1097/JCMA.0000000000000018DOI Listing
February 2019
4 Reads

Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies.

Authors:
Abbas Agaimy

Semin Diagn Pathol 2019 Feb 20. Epub 2019 Feb 20.

Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital Erlangen, Germany. Electronic address:

A variety of soft tissue and visceral neoplasms have been associated with constitutional symptoms and signs including fever, fatigue, arthritis and laboratory abnormalities such as elevated erythrocyte sedimentation rate, leukocytosis with marked neutrophilia, anemia, thrombocytosis and others. This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). Read More

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http://dx.doi.org/10.1053/j.semdp.2019.02.001DOI Listing
February 2019
2 Reads

MDM2 and MDM4 are Therapeutic Vulnerabilities in Malignant Rhabdoid Tumors.

Cancer Res 2019 Feb 12. Epub 2019 Feb 12.

Comprehensive Cancer Center, St. Jude Children's Research Hospital

Malignant rhabdoid tumors (MRT) are highly aggressive pediatric cancers that respond poorly to current therapies. In this study, we screened several MRT cell lines with large-scale RNAi, CRISPR-Cas9, and small-molecule libraries to identify potential drug targets specific for these cancers. We discovered MDM2 and MDM4, the canonical negative regulators of p53, as significant vulnerabilities. Read More

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http://dx.doi.org/10.1158/0008-5472.CAN-18-3066DOI Listing
February 2019
2 Reads
9.329 Impact Factor

Expression of cyclin D1 in clear cell sarcoma of kidney. Is it useful in differentiating it from its histological mimics?

Diagn Pathol 2019 Feb 8;14(1):13. Epub 2019 Feb 8.

Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan.

Background: Clear cell sarcoma of the kidney (CCSK) is a rare malignant pediatric renal neoplasm with a heterogeneous histological appearance which often results in misdiagnosis. There are no specific immunohistochemical markers which can help in differentiating CCSK from other pediatric renal neoplasms. Recently Cyclin D1 has been investigated as a possible marker in this regard. Read More

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http://dx.doi.org/10.1186/s13000-019-0790-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368701PMC
February 2019
3 Reads

Freiburg Neuropathology Case Conference : Posterior Fossa Mass in an Infant.

Clin Neuroradiol 2019 Mar;29(1):177-184

Department of Neuropathology, Medical Centre-University of Freiburg, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s00062-019-00759-3DOI Listing
March 2019
2 Reads

Advances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System.

Authors:
David M Meredith

Adv Anat Pathol 2019 Feb 1. Epub 2019 Feb 1.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

As genomic characterization becomes increasingly necessary for accurate diagnosis of tumors of the central nervous system, identification of rapidly assessible biomarkers is equally important to avoid excessive cost and delay in initiation of therapy. This article reviews novel immunohistochemical markers that may be used to determine mutation status, activation of signaling pathways, druggable targets, and cell lineage in many diverse tumor types. In particular, recently added entities to the 2016 WHO classification of central nervous system tumors will be addressed, including IDH-mutant gliomas, diffuse midline glioma, epithelioid glioblastoma, angiocentric glioma, RELA-rearranged ependymoma, embryonal tumors (medulloblastoma, atypical teratoid/rhabdoid tumor, pineoblastoma, embryonal tumor with multilayered rosettes, and other genetically defined high-grade neuroepithelial tumors), and meningiomas associated with germline alterations. Read More

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http://dx.doi.org/10.1097/PAP.0000000000000225DOI Listing
February 2019
2 Reads

SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis.

Authors:
Abbas Agaimy

Surg Pathol Clin 2019 Mar;12(1):149-163

Institute of Pathology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), University Hospital, Krankenhausstrasse 8-10, 91054 Erlangen, Germany. Electronic address:

Loss of different components of the Switch/sucrose nonfermentable (SWI/SNF) chromatin remodeling complex has been increasingly recognized as a central molecular event driving the initiation and/or dedifferentiation of mostly lethal but histogenetically diverse neoplasms in different body organs. This review summarizes and discusses the morphologic and phenotypic diversity of primary soft tissue neoplasms characterized by SWI/SNF complex deficiency with an emphasis on convergent and divergent cytoarchitectural patterns. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18759181183006
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http://dx.doi.org/10.1016/j.path.2018.10.006DOI Listing
March 2019
11 Reads

Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report.

Medicine (Baltimore) 2019 Feb;98(5):e14308

Department of Neurological Surgery, Children's Hospital, Zhejiang University School of Medicine, China.

Rationale: Brain magnetic resonance imaging (MRI) images of atypical teratoid rhabdoid tumor (ATRT) often present heterogeneous signals of various cells without remarkable features of the disease. We describe a unique case of atypical brain MRI images presenting as an type II neurofibromatosis and explore some diagnostic hints.

Patient Concerns: A 1-year-and-7-month-old boy admitted to our department with a 7-day history of drowsiness and 2-day history of emesis, and his presenting complaint was repeated vomit. Read More

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http://dx.doi.org/10.1097/MD.0000000000014308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380747PMC
February 2019
2 Reads

[Clinicopathological characteristics of fumarate hydratase-deficient renal cell carcinoma].

Zhonghua Bing Li Xue Za Zhi 2019 Feb;48(2):120-126

Department of Pathology, the Affiliated Hospital of Qingdao University, Qingdao 266003, China.

To investigate the clinicopathologic characteristics, molecular and genetic features, differential diagnoses and prognosis of fumarate hydratase-deficient renal cell carcinoma (FH-RCC). The immunohistochemical (IHC) expression of FH in 391 renal neoplasms in tissue chips collected from the Affiliated Hospital of Qingdao University and 971 Hospital of PLA Navy from January 2011 to December 2017 was evaluated. The clinicopathologic data of eight FH negative cases were collected. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.02.009DOI Listing
February 2019
13 Reads

Renal Medullary Carcinoma: a Report of the Current Literature.

Curr Urol Rep 2019 Jan 17;20(1). Epub 2019 Jan 17.

FINAER (Foundation for Research and Assistance in Kidney Disease), Palestina 525, 1182, Buenos Aires, Argentina.

Purpose Of The Review: We present an updated report of renal medullary carcinoma (RMC), a rare and aggressive condition.

Recent Findings: There is a majority of male patients, of African descent, in the second or third decade of life. In differential diagnosis, other tumors, such as malignant rhabdoid tumor (MRT), vinculin-anaplastic lymphoma kinase (VCL-ALK) translocation renal cell carcinoma, and collecting duct carcinoma, may present difficulties. Read More

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http://dx.doi.org/10.1007/s11934-019-0865-9DOI Listing
January 2019
4 Reads

SMARCB1- and vimentin-positive esophageal carcinoma with undifferentiated components, rhabdoid features, and a good prognosis: a case report.

Surg Case Rep 2019 Jan 16;5(1). Epub 2019 Jan 16.

1st Department of Surgery, Faculty of Medicine, University of Fukui, 23-3 Matsuokashimoaizuki, Yoshida-gun, Eiheiji-cho, Fukui, 910-1193, Japan.

Background: Undifferentiated carcinoma of the esophagus with rhabdoid features is a very rare histologic finding that is occasionally associated with the loss of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1); however, until now, few survey reports of this type of tumor have been published. In this study, we describe a case of esophageal carcinoma with undifferentiated components and rhabdoid features that was exclusively positive for vimentin and SMARCB1 in a patient with prolonged survival.

Case Presentation: A 67-year-old man complained of a stomachache and loss of appetite persisting for 1 month. Read More

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https://surgicalcasereports.springeropen.com/articles/10.118
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http://dx.doi.org/10.1186/s40792-019-0562-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335233PMC
January 2019
8 Reads

Multimodal Management of Congenital Orbital Malignant Rhabdoid Tumor: Review of Literature and Report of a Rare Case.

J Pediatr Hematol Oncol 2019 Jan 4. Epub 2019 Jan 4.

Pathology, All India Institute of Medical Sciences, New Delhi, India.

Background: Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor with a dismal prognosis. It commonly arises in the brain (65%), soft tissues (26%), and the kidney (9%). Primary orbital involvement is extremely rare. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001402DOI Listing
January 2019
12 Reads

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation.

Cancer Cell 2019 Jan 27;35(1):95-110.e8. Epub 2018 Dec 27.

Hopp-Children's Cancer Center at the NCT Heidelberg (KiTZ), 69120 Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany. Electronic address:

Biallelic inactivation of SMARCB1, encoding a member of the SWI/SNF chromatin remodeling complex, is the hallmark genetic aberration of atypical teratoid rhabdoid tumors (ATRT). Here, we report how loss of SMARCB1 affects the epigenome in these tumors. Using chromatin immunoprecipitation sequencing (ChIP-seq) on primary tumors for a series of active and repressive histone marks, we identified the chromatin states differentially represented in ATRTs compared with other brain tumors and non-neoplastic brain. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15356108183053
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http://dx.doi.org/10.1016/j.ccell.2018.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341227PMC
January 2019
9 Reads

Imaging features of spinal atypical teratoid rhabdoid tumors in children.

Medicine (Baltimore) 2018 Dec;97(52):e13808

Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.

This study aims to analyze and summarize the imaging features of spinal atypical teratoid/rhabdoid tumors (AT/RT) in children.Imaging features in 8 children with spinal AT/RT confirmed by surgical pathology were retrospectively analyzed. All patients had underwent total spine 3. Read More

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http://dx.doi.org/10.1097/MD.0000000000013808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314652PMC
December 2018
12 Reads

Broad Spectrum Activity of the Checkpoint Kinase 1 Inhibitor Prexasertib as a Single Agent or Chemopotentiator Across a Range of Preclinical Pediatric Tumor Models.

Clin Cancer Res 2019 Apr 18;25(7):2278-2289. Epub 2018 Dec 18.

Eli Lilly and Company, Lilly Corporate Center, Indianapolis, Indiana.

Purpose: Checkpoint kinase 1 (CHK1) inhibitors potentiate the DNA-damaging effects of cytotoxic therapies and/or promote elevated levels of replication stress, leading to tumor cell death. Prexasertib (LY2606368) is a CHK1 small-molecule inhibitor under clinical evaluation in multiple adult and pediatric cancers. In this study, prexasertib was tested in a large panel of preclinical models of pediatric solid malignancies alone or in combination with chemotherapy. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-18-2728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445779PMC
April 2019
10 Reads

Primary Pulmonary Meningioma With Rhabdoid Features.

Int J Surg Pathol 2018 Dec 18:1066896918819257. Epub 2018 Dec 18.

1 Vilnius University, Vilnius, Lithuania.

Only 1% to 2% of meningiomas have primary extrameningeal location, which is mostly head and neck region. Primary pulmonary meningiomas (PPMs) are even more uncommon with up to 50 cases reported in the literature. Only 5 cases of PPM with confirmed or possible malignancy have been previously described. Read More

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http://dx.doi.org/10.1177/1066896918819257DOI Listing
December 2018
2 Reads
0.961 Impact Factor

High-grade Endometrial Carcinomas: Morphologic and Immunohistochemical Features, Diagnostic Challenges and Recommendations.

Int J Gynecol Pathol 2019 Jan;38 Suppl 1:S40-S63

Department of Pathology, Memorial Sloan Kettering Cancer Center (R.M., R.A.S.) New York University Medical Center and School of Medicine, Tisch Hospital (K.M.), New York Department of Pathology, University Hospital, Stony Brook School of Medicine, Stony Brook (C.T.), New York Department of Pathology, Oslo University Hospital, Norwegian Radium Hospital; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway (B.D.) Department of Pathology, University of California San Diego, San Diego (O.F.) Department of Pathology, Cedars-Sinai Medical Center, Los Angeles (J.K.L.R.), California Department of Pathology, Karolinska Institutet, Stockholm, Sweden (J.A.C.) Department of Pathology, Brigham and Women's Hospital, Harvard Medical School (C.P.C.) Department of Pathology, Massachussetts General Hospital, Harvard Medical School (E.O.), Boston, Massachussetts Department of Pathology, University of British Columbia, Vancouver (C.B.G., J.A.I.) Department of Laboratory Medicine, Pathology and Medical Genetics, Royal Jubilee Hospital, Victoria (J.A.I.), BC, Canada Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas (A.M.) Department of Pathology, Hospital University Arnau de Vilanova; and Department of Pathology, Hospital University de Bellvitge, IRBLLEIDA, IDIBELL, University of Lleida, CIBERONC, Barcelona, Spain (X.M.-G.) Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK (W.G.M.) Department of Pathology and Obstetrics and Gynecology, Yale School of Medicine and Yale School of Publich Health, New Haven, Connecticut (V.P.) Department of Pathology, University of Maryland School of Medicine, Baltimore, Maryland (P.N.S.) Department of Pathology, KEMH and School for Women's and Infants' Health, University of Western Australia, Perth, WA, Australia (C.J.R.S.).

This review of challenging diagnostic issues concerning high-grade endometrial carcinomas is derived from the authors' review of the literature followed by discussions at the Endometrial Cancer Workshop sponsored by the International Society of Gynecological Pathologists in 2016. Recommendations presented are evidence-based, insofar as this is possible, given that the levels of evidence are weak or moderate due to small sample sizes and nonuniform diagnostic criteria used in many studies. High-grade endometrioid carcinomas include FIGO grade 3 endometrioid carcinomas, serous carcinomas, clear cell carcinomas, undifferentiated carcinomas, and carcinosarcomas. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296248PMC
January 2019
33 Reads

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults.

Front Oncol 2018 28;8:567. Epub 2018 Nov 28.

Division of Neuropathology, University of Alberta Hospital, Edmonton, AB, Canada.

Atypical teratoid/rhabdoid tumor in adults is a relatively rare malignant neoplasm. It is characterized by the presence of rhabdoid cells in combination with loss of either the INI1 or BRG1protein from the tumor cells. A systematic review was conducted using MEDLINE using the terms "atypical teratoid rhabdoid tumor" AND "adult. Read More

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https://www.frontiersin.org/article/10.3389/fonc.2018.00567/
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http://dx.doi.org/10.3389/fonc.2018.00567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279935PMC
November 2018
17 Reads

Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors.

Brain Tumor Pathol 2019 Jan 6;36(1):1-6. Epub 2018 Dec 6.

Department of Experimental and Clinical Pathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawińskiego 5 Street, 02-106, Warsaw, Poland.

Expression of the ALK gene strongly correlates with the WNT-activated medulloblastomas, which are routinely identified by detection of CTNNB1 mutation. However, some tumors have mutations in other than CTNNB1 genes. Therefore, we investigated if ALK expression may identify WNT-activated tumors without CTNNB1 mutation. Read More

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http://dx.doi.org/10.1007/s10014-018-0331-2DOI Listing
January 2019
2 Reads

Desmoplastic Small Round Cell Tumors With Atypical Presentations: A Report of 34 Cases.

Int J Surg Pathol 2019 May 6;27(3):236-243. Epub 2018 Dec 6.

2 Mayo Clinic, Rochester, MN, USA.

Objectives: Desmoplastic small round cell tumor (DSRCT) is an aggressive round cell sarcoma that arises in the abdominal cavity/pelvis of young males. We sought to expand its clinicopathologic spectrum.

Methods: Cases of DSRCT presenting in patients >30 years of age or tumors arising outside of the abdominal cavity/pelvis were retrieved. Read More

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http://dx.doi.org/10.1177/1066896918817140DOI Listing
May 2019
11 Reads

Overall Survival of Primary Intracranial Atypical Teratoid Rhabdoid Tumor Following Multimodal Treatment: A Pooled Analysis of Individual Patient Data.

Neurosurg Rev 2018 Dec 8. Epub 2018 Dec 8.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Tiantan Xili 6, Dongcheng District, Beijing, People's Republic of China.

No standard treatment protocol to guide the management of the primary central nervous system atypical teratoid rhabdoid tumors (ATRTs). To evaluate the efficacy of GTR (gross total resection), RT (radiotherapy), CCMT (conventional chemotherapy), or intensified chemotherapy (ICMT) and verify the optimal treatment strategy. A total of 501 cases (18 cases from our center and 483 cases from published literature) were eligible for analysis. Read More

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http://dx.doi.org/10.1007/s10143-018-1055-9DOI Listing
December 2018
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Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1).

Pediatr Dev Pathol 2019 Mar-Apr;22(2):161-165. Epub 2018 Nov 23.

3 Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

Atypical teratoid/rhabdoid tumor (ATRT) is a high-grade central nervous system tumor, with poor prognosis despite intensive multimodal therapy. Loss of nuclear immunostaining for INI1 due to inactivation of the hSNF5/INI1 tumor suppressor gene is pathognomonic of ATRT. We present a patient with congenital ATRT, who had spontaneous tumor regression without therapy, and is disease-free 4 years later. Read More

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http://journals.sagepub.com/doi/10.1177/1093526618814696
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http://dx.doi.org/10.1177/1093526618814696DOI Listing
April 2019
4 Reads

Functional relevance of genes predicted to be affected by epigenetic alterations in atypical teratoid/rhabdoid tumors.

J Neurooncol 2019 Jan 16;141(1):43-55. Epub 2018 Nov 16.

Institute of Neuropathology, University Hospital Münster, Pottkamp 2, 48149, Münster, Germany.

Purpose: Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly arising in infants. Mutations of SWI/SNF chromatin remodeling complex members SMARCB1/INI1 or (rarely) SMARCA4/Brg1 are the sole recurrent genetic lesions. Epigenetic studies revealed a large number of genes predicted to be affected by differential histone modifications in ATRT, but the role of these genes in the biology of ATRT remains uncertain. Read More

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http://link.springer.com/10.1007/s11060-018-03018-6
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http://dx.doi.org/10.1007/s11060-018-03018-6DOI Listing
January 2019
13 Reads

Less known aspects of central hypothyroidism: Part 1 - Acquired etiologies.

J Clin Transl Endocrinol 2018 Dec 26;14:25-33. Epub 2018 Sep 26.

Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark.

Central hypothyroidism (CH) is a rare cause of hypothyroidism. CH is frequently overlooked, as its clinical picture is subtle and includes non-specific symptoms; furthermore, if measurement of TSH alone is used to screen for thyroid function, TSH concentrations can be normal or even above the upper normal reference limit. Indeed, certain patients are at risk of developing CH, such as those with a pituitary adenoma or hypophysitis, those who have been treated for a childhood malignancy, have suffered a head trauma, sub-arachnoid hemorrhage or meningitis, and those who are on drugs capable to reduce TSH secretion. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22146237183006
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http://dx.doi.org/10.1016/j.jcte.2018.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205405PMC
December 2018
16 Reads

Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Subarachnoid and Intraventricular Hemorrhage.

World Neurosurg 2019 Mar 4;123:e31-e38. Epub 2018 Nov 4.

Department of Neurosurgery, Henry Ford Health System, Detroit, Michigan, USA.

Background: Atypical teratoid/rhabdoid tumors (ATRT) are uncommon malignancies of the central nervous system and are often difficult to distinguish radiographically and pathologically from other common tumors. We present the first case of sellar ATRT presenting with subarachnoid hemorrhage (SAH) and intraventricular hemorrhage (IVH).

Case Description: A 62-year-old woman, who had presented with symptoms of headache, diabetes insipidus, hypothyroidism, and seizures, was found to have a sellar tumor with hemorrhagic transformation. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.10.198DOI Listing
March 2019
11 Reads

Polo-Like Kinase 4 (PLK4) Is Overexpressed in Central Nervous System Neuroblastoma (CNS-NB).

Bioengineering (Basel) 2018 Nov 4;5(4). Epub 2018 Nov 4.

Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.

Neuroblastoma (NB) is the most common extracranial solid tumor in pediatrics, with rare occurrences of primary and metastatic tumors in the central nervous system (CNS). We previously reported the overexpression of the polo-like kinase 4 (PLK4) in embryonal brain tumors. PLK4 has also been found to be overexpressed in a variety of peripheral adult tumors and recently in peripheral NB. Read More

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http://www.mdpi.com/2306-5354/5/4/96
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http://dx.doi.org/10.3390/bioengineering5040096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315664PMC
November 2018
13 Reads

A non-canonical SWI/SNF complex is a synthetic lethal target in cancers driven by BAF complex perturbation.

Nat Cell Biol 2018 12 5;20(12):1410-1420. Epub 2018 Nov 5.

Department of Pediatric Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.

Mammalian SWI/SNF chromatin remodelling complexes exist in three distinct, final-form assemblies: canonical BAF (cBAF), PBAF and a newly characterized non-canonical complex (ncBAF). However, their complex-specific targeting on chromatin, functions and roles in disease remain largely undefined. Here, we comprehensively mapped complex assemblies on chromatin and found that ncBAF complexes uniquely localize to CTCF sites and promoters. Read More

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http://www.nature.com/articles/s41556-018-0221-1
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http://dx.doi.org/10.1038/s41556-018-0221-1DOI Listing
December 2018
40 Reads

Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation.

Pediatr Blood Cancer 2019 Mar 4;66(3):e27546. Epub 2018 Nov 4.

Pediatric Brain Tumour Program, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/pbc.27546
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http://dx.doi.org/10.1002/pbc.27546DOI Listing
March 2019
9 Reads