Extrarenal Rhabdoid Tumor Research Articles

Malignant extrarenal rhabdoid tumor: a case report

Abstract The fetal extrarenal rhabdoid tumor is a highly aggressive and rare neoplasm that mostly occurs in the first year of life. In this case, a remarkably enlarged right upper arm was diagnosed in a male fetus at 31+2 weeks of gestation. Because of a fast progressive tumor volume and signs of fetal distress, a cesarean section was performed at 34 weeks of gestation. The preterm baby showed a blue livid tumor reaching from the right elbow up to the shoulder that resulted in an extrarenal rhabdoid tumor on histopathologic analysis. A therapeutic trial with cyclophosphamide was not effective and the child died at the age of 26 days because of multi-organ failure.

Clinical Characteristics and Outcome of Children with Extracranial, Extrarenal Rhabdoid Tumors Registered to the European Rhabdoid Registry 2007–2013

Rhabdoid tumors have become a much closer defined entity comprising at least 3 anatomically defined subgroups: atypical teratoid rhabdoid tumor (AT/RT), malignant rhabdoid tumor of soft tissue (MRT) and rhabdoid tumors of the kidney (RTK). We performed a retrospective analysis of patients affected by MRT registered to the European EU-RHAB registry.

SMARCB1 deletion by a complex three-way chromosomal translocation in an extrarenal malignant rhabdoid tumor

Rhabdoid tumors (RTs) are highly aggressive malignant neoplasms of early childhood that arise in the kidney, brain, and extrarenal sites. The disease is genetically defined by biallelic disruption of the SMARCB1/INI1/SNF5 tumor suppressor gene, a core component of the ATP-dependent chromatin remodeling SWI/SNF complex. The molecular changes leading to SMARCB1 alterations in RTs are heterogeneous, including germline or constitutional inactivating mutations, partial or total gene deletions, copy number neutral loss of heterozygosity, and, less commonly, reciprocal translocations. We report a novel three-way chromosomal rearrangement, which was identified by conventional cytogenetic and sequential fluorescence in situ hybridization studies as the underlying molecular mechanism of the loss of SMARCB1 in an extrarenal RT. This case highlights the heterogeneity of genetic events that may lead to the loss of SMARCB1 and the development of RTs.

Rhabdoid tumor: the Irish experience 1986–2013

Nomenclature for the three recognized forms of rhabdoid tumor reflect their anatomic localization and include malignant rhabdoid tumor of the kidney (MRTK), extrarenal extracranial rhabdoid tumor (EERT), and atypical teratoid rhabdoid tumor (ATRT) involving the central nervous system. Astrikingly simple karyotype belies the fact that rhabdoid tumors are among the most lethal human cancers, and now early strides are beginning to elucidate their molecular pathogenesis. Rhabdoid tumors are largely confined to the pediatric population, where they occur preferentially during infancy. Given the rarity of this tumor, international consensus on best treatment has only recently been achieved in conjunction with the establishment of the European Rhabdoid Tumor Registry. Between 1986 and 2013, 25 pediatric patients were diagnosed with rhabdoid tumor in the Republic of Ireland. Of these patients, 13 presented with ATRT, eight had MRTK, and four had EERT. The mean age at diagnosis was 38.8 months, with an equal sex incidence. Because of the lack of a standardized treatment strategy for rhabdoid tumors, these patients have been treated largely according to anatomic site, based on sarcoma, renal, or brain tumor protocols contemporary to their diagnoses. Of the patients, 84% received chemotherapy, 80% underwent surgery, and 44% had radiation therapy. The outcome overall was poor, independent of anatomic location. The overall survival rate was 24%, and mean time to death was just under 9 months.

Extra-renal malignant rhabdoid tumor of head and neck region: Characteristics of tracer uptake on FDG PET/CT in tumor with rare histology.

Extra-renal malignant rhabdoid tumor of head and neck region: Characteristics of tracer uptake on FDG PET/CT in tumor with rare histology.

Malignant extrarenal rhabdoid tumour in the oral cavity: Report of a rare malignancy in an unusual location

Malignant rhabdoid tumour (MRT) is a well established aggressive malignant neoplasm occurring in kidney particularly in infants and children. When this type of tumor involves any extrarenal site it is termed malignant extrarenal rhabdoid tumor (MERT). Here we report a case of MERT involving the oral cavity. To the best of our knowledge, apart from us only one oral MERT has been documented. Due to their scarcity, prompt and bold diagnosis is quite challenging for a histopathologist. Confirmed final diagnosis must be given after thorough immunohistochemical workup. Confusions and obscurities regarding a definitive treatment policy further complicate management also. We adopted a multimodality approach comprising of surgery, radiotherapy and chemotherapy for our patient. She is disease free for last 30 months on regular followup and maintaining her normal daily activities.

Malignant Extrarenal Rhabdoid Tumor in Adults: Three Case Reports Originating from the Ileum, Adrenal Gland and Uterus

Malignant Extrarenal Rhabdoid Tumor in Adults: Three Case Reports Originating from the Ileum, Adrenal Gland and Uterus

Unusual Mimicks of Crohnʼs Disease: Malignant Extrarenal Rhabdoid Tumor (MERT)

Background: Malignant extrarenal rhabdoid tumors (MERT) of the gastrointestinal tract are extremely rare; only seven cases of colonic MERT have been reported so far. We report a case of colonic MERT, the presentation of which was very similar to new onset Crohn's disease. Clinical Case: A 31-year-old previously healthy Caucasian female presented with complaints of right lower quadrant abdominal pain, nausea, and vomiting. The pain was non-radiating, 10/10 in intensity, with no aggravating or relieving factors. Family history was remarkable for a maternal aunt with a history of Crohn's disease. Blood work revealed leukocytosis of 14,000 cells/mL and an elevated erythrocyte sedimentation rate of 44 (normal 0-20 mm/hr). CT scan of the abdomen and pelvis with contrast showed a small bowel obstruction (SBO), with focal segment of thickening in the terminal ileum, mesenteric engorgement, and inflammation with skip lesions in the distal ileum. A colonoscopy was performed, after resolution of the SBO, which revealed a 4-cm localized lesion at the ileocecal valve, which was suggestive of an inflammatory mass. Biopsies of the lesion showed poorly differentiated adenocarcinoma. Staging CT showed no evidence of metastatic disease and patient underwent a right hemicolectomy. Surgical pathology revealed poorly differentiated malignant neoplasm with rhabdoid features; 9 of 15 pericolonic lymph nodes were positive for metastatic malignancy. Patient was started on FOLFOX but succumbed to her disease in less than 1 year. Discussion: Colonic MERT is an extremely rare tumor that has been described in individuals older than 70 years and typically located proximal to the transverse colon.1 There appears to be no sex predilection and overall survival is less than 12 months. Our patient is the youngest individual diagnosed with a colonic MERT. MERT is derived from primitive pluripotential cells, such as neural crest cells or the equivalent, expressing the neuroectodermal or ectomesenchymal phenotype.2 Treatment of colonic MERT is surgical resection without chemotherapy and radiation.3 Since the tumor is highly malignant, a preoperative diagnosis is very important, to facilitate treatment planning and prevent any unnecessary surgical intervention.

Metastatic Malignant Extra-renal Rhabdoid Tumor (MERT) of the Esophagus

Purpose: We report a 61-year-old female who presented with a 5-month history of intermittent dysphagia to solids and an 8-pound weight loss. She underwent a barium swallow that revealed a partially obstructing distal esophageal lesion suspicious for malignancy. She was referred to an outside gastroenterologist for an upper endoscopy (EGD). EGD demonstrated a large, partially obstructing fungating mass in the esophagus from 33 cm to 40 cm. Cold forceps biopsies were performed revealing poorly differentiated non-small cell carcinoma. Immunohistochemistry (IHC) staining was performed for epithelial markers and was positive for epithelial membrane antigen (EMA), cytokeratin AE1/3, and CAM 5.2. The impression was that of an esophageal non-small cell carcinoma. Staging CT scan of the chest, abdomen, and pelvis showed marked concentric wall thickening of the distal esophagus with extensive mediastinal lymphadenopathy and porta caval/hepatis lymph nodes. Subsequent PET scan demonstrated uptake in the distal esophagus and adjacent lymph nodes. She was then referred to us for staging via endoscopic ultrasound (EUS). EUS revealed the partially obstructing fungating mass in the distal esophagus with poorly defined borders and evidence of extension beyond the adventitia. Malignant appearing lymph nodes were seen in the paraesophageal region, gastrohepatic ligament, and the celiac axis. The left adrenal gland also appeared enlarged. EUS-guided fine needle aspiration (EUS-FNA) was performed of a celiac lymph node and the left adrenal gland. Immediate cytological evaluation (ICE) of the celiac lymph node aspirate was positive for malignant cells. Cell block of the celiac lymph node revealed large, poorly cohesive cells with vesicular chromatin, eccentric nuclei with prominent nucleoli, and dense eosinophilic cytoplasmic inclusions. IHC staining for vimentin was performed and was positive; this confirmed a diagnosis of metastatic malignant rhabdoid tumor. Recuts of the outside slides also stained positive for vimentin-consistent with malignant extra-renal rhabdoid tumor (MERT) of the esophagus. MERT of the esophagus is rare and carries a poor prognosis with a 1-year survival of approximately 30%. MERT is defined by the presence of large, poorly cohesive cells with vesicular chromatin, eccentric nuclei with prominent nucleoli, and eosinophilic cytoplasmic inclusions. Co-expression of vimentin and epithelial cytokeratin can assist in confirming the diagnosis. Our patient with metastatic MERT was subsequently referred to an oncologist for chemotherapy (cisplatin and 5-fluorouracil). This rare case demonstrates the importance of maintaining a high suspicion of MERT in patients with esophageal non-small cell carcinoma.

Malignant Extra-renal Rhabdoid Tumor (MERT) of the Gastrointestinal Tract: A Systematic Review

Purpose: A 61-year-old female presented to us with metastatic Malignant Extra-renal Rhabdoid Tumor (MERT) of the gastrointestinal tract, which prompted us to conduct a systematic review of the literature. MERT is a rare entity that carries a poor prognosis due to its features of early metastasis and rapid growth. Methods: A systematic search and review of the literature was performed (1966-2013) utilizing MED-LINE (Pubmed), Cochrane Library, and a review of references within review articles. The search was not restricted by date or language. Only cases of rhabdoid tumor of the gastrointestinal tract in adults were included. Results: Our search resulted 19 published cases of MERT of the gastrointestinal tract reported between 1993 to 2005: seven gastric, five esophageal, four small intestinal and three colonic. The mean age of presentation was 63 years (range 52-84). The gender distribution was 74% male (14/19) and 26% female (5/19). The mean tumor size as measured on post-operative pathology was 8.8 cm (range 3.8 cm-16 cm). On gross examination, MERT can appear fungating or ulcerated with hemorrhagic necrosis. The characteristic histology of rhabdoid tumor reveals large, poorly cohesive cells with vesicular chromatin, eccentric nuclei with prominent nucleoli, and dense eosinophilic cytoplasmic inclusions. Immunohistochemical (IHC) staining was used in 100% (19/19) of patients to confirm a diagnosis. MERT stains positive for vimentin and cytokeratin- although other epithelial markers such as Neuron Specific Enolase (NSE) and Epithelial Membrane Antigen (EMA) can also be utilized. In our review, 100% of (19/19) tumors were positive for vimentin, 95% (18/19) were positive for cytokeratin or EMA, and 5% (1/19) were positive for NSE. Forty-seven percent (9/19) of patients had local lymph node metastases and 53% (10/19) had distant metastases at presentation. Eighty-four percent (16/19) of patients had a surgical resection, 5% (1/19) underwent radiation therapy and 5% (1/19) underwent chemotherapy. Sixteen percent (3/19) either died before treatment could be initiated or had no treatment information available. Sixty-eight percent (13/19) of patients died within 1 year of diagnosis, and 16% (3/19) were alive at 1-year follow up. Follow up information was not available for 16% (3/19) of patients. The mainstay of treatment remains surgical resection with limited literature on the use of chemotherapy or radiation therapy. Conclusion: MERT is a rare entity that carries a poor prognosis with a high mortality rate. As such, it is an important entity to consider as it requires IHC staining to confirm the diagnosis.

Immunohistochemical validation of INI1/SMARCB1 in a spectrum of musculoskeletal tumors: An experience at a Tertiary Cancer Referral Centre

The purpose of this study was to evaluate and validate immunohistochemical (IHC) expression of INI1/SMARCB1 in various musculoskeletal tumors in the light of the established literature.Twenty-seven cases of epithelioid sarcoma (ES); 4 of extrarenal rhabdoid tumor (ERRT) of soft tissue and 97 other tumors, including 16 cases of synovial sarcoma (SS), were evaluated for IHC expression of INI1 on formalin-fixed, paraffin-embedded tissue sections of various biopsies.Out of 128 tumors, INI1/SMARCB1 staining was completely lacking in cases of ES (23/27) (85.1%), ERRTs (4/4) (100%), myoepithelial tumors (4/14) (28.5%) and in (1/16) (6.2%) cases of SS. Fourteen out of 15 SSs displayed a reduced staining pattern. Other 67 studied tumors were INI1-positive. Sensitivity for complete INI1 negativity in ES was 85.1%, and specificity with respect to its differentials, excluding ERRTs, was 94.8%.Complete lack of INI1 immunostaining in most ESs indicates its value as a diagnostic marker for ESs, including those occurring at rare sites; in ERRTs and in some myoepithelial tumors, within an appropriate clinicopathological context, in all kinds of biopsies. ES, at least in some cases, is immunohistochemically the most closely related tumor to an ERRT. A unique pattern of reduced INI1 expression in a SS is useful during triage of some cases for molecular testing. Its expression should be interpreted in the tumor cells, rather than intermixed stromal cells and or inflammatory cells that retain INI1 expression.

Rare Malignant Tumors of Clitoris-a Case Report.

Tumors of the clitoris are very rare. Isolated case reports are available in literature. This case report highlights the importance of this disease, due to its high malignant potential and treatment options. We had come across a rare tumor of the clitoris in a young girl, reported to be malignant extrarenal rhabdoid tumor and patient had a short life span of 6months.

Synchronous Perivesical and Renal Malignant Rhabdoid Tumor in a 9-year-old Boy: A Case Report and Review of Literature

Pediatric extrarenal malignant rhabdoid tumors (MRTs) are rare and aggressive (20% 5-year survival). Only 2 cases of bladder MRTs have been published. We report on a 9-year-old boy presenting with gross hematuria, palpable pelvic mass, and an obstructed, nonfunctional kidney. Evaluation was consistent with a 9.7 cm extrarenal MRT invading the bladder and prostate. He underwent a cystoprostatectomy, Indiana pouch continent urinary reservoir creation, and a left nephroureterectomy. A discrete 2.5 cm focus of renal MRT was found. To our knowledge, this is the first case of simultaneous perivesical and renal MRT. We review the current management of pediatric extrarenal MRTs.

Primary Intraocular Malignant Extrarenal Rhabdoid Tumor: A Clinicopathological Correlation

Malignant extrarenal rhabdoid tumor is a rare and highly aggressive tumor of childhood. Intraocular involvement by malignant extrarenal rhabdoid tumor has only been described once as a metastasis. No report exists in published literature describing a primary intraocular malignant extrarenal rhabdoid tumor. The authors report the first such case along with its clinico-radiological features and histopathologic and electron microscopic characteristics. [J Pediatr Ophthalmology Strabismus 2013;50:e18–e20.]

Malignant rhabdoid tumour of the liver in a seven-month-old female infant: A case report and literature review

Malignant rhabdoid tumours in children are rare and aggressive neoplasms that occur most commonly in the kidney. Extra-renal malignant rhabdoid tumours are even rarer and have been reported in the central nervous system (atypical teratoid/rhabdoid tumour) and other sites including the liver. To date fewer than 40 cases have been reported in the literature. Here we present a case of a 7-month-old female infant with a primary malignant rhabdoid tumour of the liver and review this entity as it compares to other cases reported in the literature.

Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1

Proximal-type epithelioid sarcoma is an aggressive variant of epithelioid sarcoma most often occurring in soft tissues of the proximal limbs, characterized by polygonal cells, marked nuclear atypia, and varied rhabdoid features. Malignant rhabdoid tumor is an aggressive, well characterized entity typically with rhabdoid morphology and involving the kidney of pediatric patients. Rarely, tumors with morphologic and biologic features identical to those in kidney occur in extra-renal sites and are regarded as an extrarenal presentation of the same entity in kidney, named malignant extra-renal rhabdoid tumor. Morphologic and immunophenotypical similarities between proximal-type epithelioid sarcoma and malignant rhabdoid tumor pose a diagnostic challenge and may suggest a relationship between the two. Both tumors are characterized by loss of SMARCB1 (INI1/BAF47/SNF5) expression; however, the molecular events involved differ. Here we describe the immunohistochemical and molecular analysis of three head and neck tumors with morphologic features shared by proximal-type epithelioid sarcoma and malignant rhabdoid tumor. All tumors showed loss of SMARCB1expression. Direct sequencing of the promoter and nine coding exons of SMARCB1, multiplex ligation-dependent probe amplification, and whole genome single nucleotide polymorphism array were performed on the two adult cases and showed only a heterozygous deletion of chromosome 22 in a minority of cells in one of the cases. Though rare, proximal-type epithelioid sarcoma could occur in the head and neck and should be differentiated from other epithelioid tumors by the loss of SMARCB1 expression. The lack of detectable genetic alteration in the SMARCB1 locus in head and neck proximal-type epithelioid sarcoma warrants further investigation into the molecular mechanism underlying loss of SMARCB1 expression.

Abstracts and Case Studies From the College of American Pathologists 2012 Annual Meeting (CAP '12)

Abstracts and Case Studies From the College of American Pathologists 2012 Annual Meeting (CAP '12)

Congenital Extrarenal Malignant Rhabdoid Tumor in an Infant With Distal 22q11.2 Deletion Syndrome

Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.

Malignant Rhabdoid Tumour of the Perineum in an Adult—A Rare Presentation

Rhabdoid tumors of extrarenal origin are uncommon. This is the first report of rhabdoid tumor presenting as a perineal mass. Furthermore, it is a disease of childhood, with adult presentation being rare. We report a case of extrarenal rhabdoid tumor and discuss its presentation and possible treatment options.

Extrarenal Malignant Rhabdoid Tumor in Childhood Application of 18F-FDG PET/CT

Extrarenal malignant rhabdoid tumor (MRT) is a rare malignancy in childhood and has a poor prognosis. Accurate histopathologic diagnosis and staging of the malignancy has major implications for patient management. The application of F-fluoro-deoxy-glucose positron emission tomography/computed tomography (F-FDG PET/CT) in pediatric malignancy has been well described and is having a significant clinical impact in many common pediatric cancers, in particular lymphoma, brain tumors, bone and soft tissue sarcomas. The use of PET/CT using F-FDG in rare tumors such as MRT is unclear. Two cases of MRT in childhood are described. One patient, a 12-year-old female, was shown to have extensive metastatic disease on PET/CT, showed poor response to chemotherapy and progression of disease detected on PET/CT. Her management was changed to palliative care. The second child, a 20-month-old female, presented with a parapharyngeal mass. The initial magnetic resonance imaging showed the mass and possible metastatic ipsilateral cervical lymph nodes. The initial staging PET/CT confirmed avid metabolic activity in the tumor and regional node involvement but no distant metastases. She showed an initial good but incomplete response on PET/CT and magnetic resonance imaging to chemotherapy and her treatment program was changed. The patient relapsed with recurrent pharyngeal tumor and her management was changed to palliative care. MRT accumulate F-FDG avidly. PET/CT was helpful in the initial staging, assessing response to treatment, and in clinical decisions at various stages of management for both patients.