2,752 results match your criteria Malignant Rhabdoid Tumor

Undifferentiated Embryonal Sarcoma of the Liver With Rhabdoid Morphology Mimicking Carcinoma: Expanding the Morphologic Spectrum or a Distinct Variant?

Pediatr Dev Pathol 2021 Jun 14:10935266211018930. Epub 2021 Jun 14.

Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Undifferentiated embryonal sarcoma of the liver (UESL) is a rare aggressive neoplasm that occurs predominantly in children. Like mesenchymal hamartoma of the liver (MHL), UESL harbors recurrent rearrangements involving 19q13.3 and 19q13. Read More

View Article and Full-Text PDF

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report.

Diagn Pathol 2021 Jun 12;16(1):52. Epub 2021 Jun 12.

Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, 55131, Mainz, Germany.

Background: Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex-deficiency have been described.

Case Presentation: A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Read More

View Article and Full-Text PDF

Malignant Extrarenal Rhabdoid Tumor of the Vagina on FDG PET/CT.

Clin Nucl Med 2021 Jun 10. Epub 2021 Jun 10.

From the Department of Nuclear Medicine, Laboratory of Clinical Nuclear Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, People's Republic of China.

Abstract: Malignant rhabdoid tumor is an aggressive neoplasm commonly arising from the kidney during infancy and childhood. Extrarenal forms of this tumor are relatively rare and have been reported in several extrarenal sites including central nervous system, liver, bladder, vulva, and head and neck. Hereby, we present FDG PET/CT findings of malignant extrarenal rhabdoid tumor originating from the vagina in an 8-year-old girl. Read More

View Article and Full-Text PDF

Primary high-grade myoepithelial carcinoma of the lung: A study of three cases illustrating frequent SMARCB1-deficiency and review of the literature.

Ann Diagn Pathol 2021 May 8;53:151759. Epub 2021 May 8.

Department of Pathology, Rambam Health Care Campus, 31096 Haifa, Israel.

Primary myoepithelial carcinoma of the lung is exceptionally rare and, hence, remained poorly characterized. We present 3 tumors affecting 2 males and 1 female aged 60 to 84 years. Tumor size ranged from 4 to 10 cm. Read More

View Article and Full-Text PDF

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review.

Int J Surg Pathol 2021 Jun 9:10668969211024331. Epub 2021 Jun 9.

Children's Hospital Los Angeles, Los Angeles, CA, USA.

Malignant rhabdoid tumor (MRT) is a rare, SWItch/sucrose nonfermentable-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 ()-deficient, aggressive tumor, occurring predominantly in children below 3 years of age. Primary adrenal MRT is extremely rare, with only 3 cases reported in the literature. A previously healthy 14-year-old female presented with left upper quadrant/epigastric abdominal pain. Read More

View Article and Full-Text PDF

Extrarenal rhabdoid tumour of the vulva: diagnostic and management challenges.

BMJ Case Rep 2021 Jun 2;14(6). Epub 2021 Jun 2.

Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, Delhi, India.

Extrarenal rhabdoid tumour (ERT) of vulva is a rare gynaecological neoplasm with an aggressive course and no clear management guidelines. We present the case of a 25-year-old woman with a rapidly increasing mass in right vulva suggestive of sarcoma. Wide local excision was done. Read More

View Article and Full-Text PDF

Histologic and genomic features of breast cancers with alterations affecting the SWI/SNF (SMARC) genes.

Mod Pathol 2021 Jun 2. Epub 2021 Jun 2.

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

The SWI/SNF family of proteins is a multisubunit ATPase complex frequently altered in human cancer. Inactivating mutations in SWI/SNF-related matrix-associated actin-dependent regulator of chromatin (SMARCs) underpin a subset of tumors such as the malignant rhabdoid tumor and small cell carcinoma of the ovary, hypercalcemic type. Here, we investigated the genotypic and phenotypic characteristics of breast cancers harboring somatic genetic alterations affecting genes of the SMARC family. Read More

View Article and Full-Text PDF

Maximizing the potential of aggressive mouse tumor models in preclinical drug testing.

Sci Rep 2021 Jun 2;11(1):11580. Epub 2021 Jun 2.

Baylor College of Medicine, Houston, TX, USA.

Atypical teratoid rhabdoid tumor (ATRT) is an aggressive embryonal brain tumor among infants and young children. Two challenges exist for preclinical testing in ATRT. First, genetically quiet, ATRT is a difficult tumor to target molecularly. Read More

View Article and Full-Text PDF

[Gastric SWI/SNF-complex deficient undifferentiated/rhabdoid carcinoma: a clinicopathological study].

Zhonghua Bing Li Xue Za Zhi 2021 Jun;50(6):632-637

Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical School, Fudan University, Shanghai 200032, China.

To investigate the clinicopathological features, immunohistochemical characteristics, differential diagnosis and prognosis of gastric SWI/SNF-complex deficient undifferentiated/rhabdoid carcinomas. Two cases of gastric SWI/SNF-complex deficient undifferentiated/rhabdoid carcinoma were collected at Fudan University Shanghai Cancer Center, Shanghai, China from 2017 to 2018. The clinicopathological characteristics were analyzed. Read More

View Article and Full-Text PDF

Global Chromatin Changes Resulting from Single-Gene Inactivation-The Role of SMARCB1 in Malignant Rhabdoid Tumor.

Cancers (Basel) 2021 May 23;13(11). Epub 2021 May 23.

School of Medicine, Trinity College, University of Dublin, Dublin 2, Ireland.

Human cancer typically results from the stochastic accumulation of multiple oncogene-activating and tumor-suppressor gene-inactivating mutations. However, this process takes time and especially in the context of certain pediatric cancer, fewer but more 'impactful' mutations may in short order produce the full-blown cancer phenotype. This is well exemplified by the highly aggressive malignant rhabdoid tumor (MRT), where the only gene classically showing recurrent inactivation is SMARCB1, a subunit member of the BAF chromatin-remodeling complex. Read More

View Article and Full-Text PDF

INI1-Deficient Thyroid Carcinoma is an Aggressive Disease with Epithelioid and Rhabdoid Phenotype. A Case Report, Survey of INI1 Expression in Thyroid Lesions and Literature Review.

Head Neck Pathol 2021 May 31. Epub 2021 May 31.

Department of Pathology, University at Buffalo, Buffalo, NY, USA.

Integrase interactor 1 (INI1)-deficient carcinomas, recently described in several sites including the head and neck, are associated with basaloid or rhabdoid histology and aggressive behavior irrespective of origin. INI1-deficient thyroid carcinoma is extremely rare. We present here the phenotype and genotype of an INI1-deficient thyroid carcinoma and report on the INI1 protein expression in various thyroid lesions. Read More

View Article and Full-Text PDF

Infantile Extracranial Rhabdoid Tumor of the Scalp.

Case Rep Med 2021 11;2021:6682960. Epub 2021 May 11.

Department of Neurosurgery, King Hussein Medical Center, Amman, Jordan.

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. Read More

View Article and Full-Text PDF

Pathologic correlation with near infrared-indocyanine green guided surgery for pediatric liver cancer.

J Pediatr Surg 2021 Apr 25. Epub 2021 Apr 25.

Division of Pediatric Surgery, Michael E. DeBakey Department of Surgery, Texas Children's Surgical Oncology Program, Texas Children's Liver Tumor Program, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA. Electronic address:

Purpose: Hepatoblastoma (HB) and hepatocellular carcinoma (HCC) are the most common primary malignant tumors of childhood. Intraoperative indocyanine green (ICG) administration with near-infrared imaging (NIR) has emerged as a surgical technology that can be used to assist with localization of pulmonary metastases secondary to HB; however, there has been limited application as an adjunct for resection of the primary liver tumor and assessment of extrahepatic disease.

Methods: We present 14 patients treated for HB, HCC, and malignant rhabdoid tumor at our institution with the use of intraoperative NIR-ICG guidance. Read More

View Article and Full-Text PDF

Small Cell Carcinoma of the Ovary, Hypercalcemic Type, in a 12-Month-Old Girl.

Pediatr Dev Pathol 2021 May 28:10935266211021213. Epub 2021 May 28.

Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a highly aggressive malignant tumor affecting predominantly young adults and adolescents with an average age of 23.9 at time of diagnosis. Up to two thirds of patients have paraneoplastic hypercalcemia. Read More

View Article and Full-Text PDF

Sellar atypical teratoid rhabdoid tumor in an adult: Clinical and pathological dilemmas.

Clin Neuropathol 2021 May 27. Epub 2021 May 27.

An atypical teratoid rhabdoid tumor (ATRT) is a pediatric embryonic tumor of the central nervous system and is uncommon in adults. We report a case of a 33-year-old female who presented with multiple dural lesions that were diagnosed as ATRT. She had a past history of endoscopic transnasal transsphenoidal and subsequent transcranial decompression of suprasellar lesion 6 months prior, with a presumptive diagnosis of atypical pituitary adenoma, which on retrospective evaluation was confirmed as sellar ATRT. Read More

View Article and Full-Text PDF

18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Finding in a Rare Case of Follicular Carcinoma of Thyroid with Rhabdoid Morphology.

Indian J Nucl Med 2021 Jan-Mar;36(1):56-58. Epub 2021 Mar 4.

Department of Nuclear Medicine and PET-CT, Tata Medical Center, Kolkata, West Bengal, India.

Rhabdoid tumor commonly occurs in the kidney and has an aggressive clinical course with high mortality. Extrarenal rhabdoid tumours can involve a number of organs, but poorly differentiated follicular carcinoma with rhabdoid phenotype is an extremely rare clinical entity. The 18F-FDG PET feature of this thyroid malignancy is not available in the literature to the best of our knowledge. Read More

View Article and Full-Text PDF

Metastatic renal cell carcinoma to pancreas and gastrointestinal tract: a clinicopathological study of 3 cases and review of literature.

BMC Urol 2021 May 25;21(1):84. Epub 2021 May 25.

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

Background: Renal Cell Carcinoma (RCC) metastasizes in approximately 20-30% cases. The most common sites for metastases are the lungs, bones, liver, and brain. Metastases of RCC in the gastrointestinal tract (GIT) are very rare. Read More

View Article and Full-Text PDF

Improving Renal Tumor Biopsy Prognostication With BAP1 Analyses.

Arch Pathol Lab Med 2021 May 21. Epub 2021 May 21.

Department of Hematology-Oncology Division in Internal Medicine (Brugarolas), University of Texas Southwestern Medical Center, Dallas.

Context.—: Active surveillance of small renal masses highlights the need for accurate prognostication of biopsies.

Objective. Read More

View Article and Full-Text PDF

Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.

Acta Neuropathol 2021 May 18. Epub 2021 May 18.

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

Loss of nuclear SMARCB1 (INI1/hSNF5/BAF47) protein expression due to biallelic mutations of the SMARCB1 tumor suppressor gene is a hallmark of atypical teratoid/rhabdoid tumors (ATRT), but the presence of cytoplasmic SMARCB1 protein in these tumors has not yet been described. In a series of 102 primary ATRT, distinct cytoplasmic SMARCB1 staining on immunohistochemistry was encountered in 19 cases (19%) and was highly over-represented in cases showing pathogenic sequence variants leading to truncation or mutation of the C-terminal part of SMARCB1 (15/19 vs. 4/83; Chi-square: 56. Read More

View Article and Full-Text PDF

Myeloablative Carboplatin and Thiotepa With Autologous Stem Cell Rescue for Nonmedulloblastoma High-risk CNS Tumors in Young Children.

J Pediatr Hematol Oncol 2021 May 18. Epub 2021 May 18.

Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of Rochester, Rochester Department of Pediatrics, Division of Pediatric Hematology/Oncology, Albany Medical Center, Albany Department of Pediatrics, Division of Pediatric Hematology/Oncology, University at Buffalo, Buffalo, NY.

Malignant central nervous system (CNS) tumors in young children have a poor prognosis and pose a therapeutic challenge. We describe 11 patients with high-risk CNS tumors (6 atypical teratoid/rhabdoid tumor, 4 nonmedulloblastoma CNS embryonal tumors, and 1 glioblastoma multiforme) who received 32 consolidation cycles of myeloablative carboplatin/thiotepa followed by autologous peripheral blood stem cell rescue. All patients underwent successful stem cell harvest without significant complications. Read More

View Article and Full-Text PDF

SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.

J Pathol 2021 May 17. Epub 2021 May 17.

INSERM, U830, Pediatric Translational Research, PSL Research University, Institut Curie, Paris, France.

Extracranial rhabdoid tumours (ECRT) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRT ) on a background of a remarkably stable genome, a low mutational burden, and no other recurrent mutations. Rarely, ECRT can harbour the alternative inactivation of SMARCA4 (ECRT ) instead of SMARCB1. Read More

View Article and Full-Text PDF

Large lateral intraventricular tumors - Outcome of radical surgery.

J Clin Neurosci 2021 Jun 14;88:205-212. Epub 2021 Apr 14.

Department of Neurosurgery, K.E.M. Hospital and Seth G.S. Medical College, Parel, Mumbai, India.

This is a retrospective analysis of 145 cases of lateral intraventricular tumors that were larger than 4 cm in their maximum dimension. The aim of surgery was radical tumor resection. During the period January 2000 to December 2019, 145 cases of lateral intraventricular tumors were treated by surgery by an interhemispheric approach. Read More

View Article and Full-Text PDF

Common and Rare Histological Variants of Hepatoblastoma in Children: A Pathological Diagnosis and Review of the Literature.

Gastrointest Tumors 2021 Apr 4;8(2):41-46. Epub 2021 Feb 4.

Department of Radiology, All India Institute of Medical Sciences, Jodhpur, India.

Hepatoblastoma (HB) is a rare tumor, but it is the most common primary liver malignancy in children and comprised of approximately 1% of all pediatric malignancies. Mostly, this tumor is sporadic in nature but can show a syndrome association. Upregulation in Wnt/β-catenin pathway can be there in 70-80% cases of HB. Read More

View Article and Full-Text PDF

[Gemcitabine and Docetaxel for the Treatment of Relapsed and Refractory Malignant Rhabdoid Tumor of Kidney and Atypical Teratoid Rhabdoid Tumor].

Gan To Kagaku Ryoho 2021 Apr;48(4):537-540

Dept. of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan.

Gemcitabine and Docetaxel(GEM/DTX)are well known chemotherapeutic drugs for the treatment of soft tissue sarcomas. However, the efficacy of these drugs in the treatment of malignant rhabdoid tumors(MRTs)has not been well described. We used GEM/DTX as salvage chemotherapy for relapsed and refractory MRTs, including 2 patients with malignant rhabdoid tumor of the kidney(MRTK)and 2 with atypical teratoid rhabdoid tumor(ATRT). Read More

View Article and Full-Text PDF

Clinicopathological characteristics and outcomes in embryonal tumor with multilayered rosettes: A decade long experience from a tertiary care centre in North India.

Ann Diagn Pathol 2021 Apr 19;53:151745. Epub 2021 Apr 19.

Departments of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: Embryonal tumor with multilayered rosettes (ETMR) are a heterogenous group clinically, pathologically and topographically. Due to limited cases, data regarding its molecular genetics, pathology and prognostic factors is evolving. We retrospectively analysed our cohort of ETMR over last decade in order to study their clinicopathological characteristics and outcome. Read More

View Article and Full-Text PDF

Anaplastic carcinoma showing rhabdoid features combined with ovarian mucinous borderline cystadenoma: a case report and literature review.

J Int Med Res 2021 May;49(5):3000605211013159

Department of Gynecology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China.

Anaplastic carcinoma in an ovarian tumor (ACOT) is rare. There have been a few controversial cases illustrating the clinical characteristics and prognostic factors of ACOT, which are not well known. A 60-year-old Chinese woman presented with a large pelvic tumor. Read More

View Article and Full-Text PDF

Cytotoxicity and Target Modulation in Pediatric Solid Tumors by the Proteasome Inhibitor Carfilzomib.

Curr Cancer Drug Targets 2021 May 3. Epub 2021 May 3.

Division of Pediatric Hematology, Oncology and Transplant Alberta Children's Hospital 2888 Shaganappi Tr. NW Calgary AB T3B 6A8, Canada.

Background: Most children with recurrent metastatic solid tumors have high mortality rates. Recent studies have shown that proteasome inhibition leads to effective tumor killing in cells that have acquired treatment resistance and metastatic properties.

Objective: The purpose of this study was to test the potential of Carfilzomib (CFZ), a proteasome inhibitor, in refractory pediatric solid tumors, which is currently unknown. Read More

View Article and Full-Text PDF

Extra-axial, dural-based atypical teratoid/rhabdoid tumor.

Childs Nerv Syst 2021 May 4. Epub 2021 May 4.

Department of Neurosurgery, Postgraduate Institute of Medical Education & Research (PGIMER), Sector 12, Chandigarh, 160012, India.

Atypical teratoid/rhabdoid tumors (ATRTs) are malignant central nervous system tumors that affect early childhood (< 3 years), and mostly located in the infratentorial space. Owing to an infrequent occurrence, their radiological features have not been completely defined. Nevertheless, these are characteristically intra-axial except for few instances in the cerebellopontine angle region. Read More

View Article and Full-Text PDF