Survivors of infant atypical teratoid/rhabdoid tumors present with severely impaired cognitive functions especially for fluid intelligence and visual processing: data from the German brain tumor studies.

BACKGROUND: The contribution of tumor type, multimodal treatment, and other patient-related factors upon long-term cognitive sequelae in infant brain tumor survivors remains undefined. We add our retrospective analysis of neuropsychological and quality of survival (QoS) outcome data of survivors of atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors of the soft tissues (eMRT) and kidneys (RTK) treated within the same framework. Neuropsychological data from children with ATRT were compared to data from children with non-irradiated low-grade glioma (LGG). PATIENTS AND METHODS: Following surgery, patients (0-36 months at diagnosis) had received radio-chemotherapy (up to 54 Gy; ATRT: n = 13; eMRT/RTK: n = 7), chemotherapy only (LGG: n = 4; eMRT/RTK: n = 1) or had been observed (LGG: n = 11). Neuropsychological evaluation employing comparable tests was performed at median 6.8 years (ATRT), 6.6 years (eMRT/RTK), and 5.2 years (LGG) post diagnosis. RESULTS: We detected sequelae in various domains for all tumor types. Group comparison showed impairments, specifically in fluid intelligence (p = .041; d = 1.11) and visual processing (p = .001; d = 2.09) in ATRT patients when compared to LGG patients. Results for psychomotor speed and attention abilities were significantly below the norm for both groups (p < .001-.019; d = 0.79-1.90). Diagnosis predicted impairments of cognitive outcome, while sex- and age-related variables did not. QoS outcome for all rhabdoid patients displayed impairments mainly in social (p = .008; d = 0.74) and school functioning (p = .048; d = 0.67), as well as lower overall scores in psychosocial functioning (p = .023; d = 0.78) and quality of life (p = .006; d = 0.79) compared to healthy controls. CONCLUSION: Survivors of infant ATRT experience various late effects in cognition and QoS following multimodal treatment, while infant LGG patients without radiotherapy demonstrated comparable impairments in psychomotor and attention abilities. Early onset and multimodal treatment of rhabdoid tumors require close monitoring of neuropsychological and QoS sequelae.

Vaginal Rhabdoid Tumor Presenting as Prenatal Lower Urinary Tract Obstruction and Vaginal Mass.

Extracranial malignant rhabdoid tumors (MRT) are very rare and aggressive tumors. They are typically associated with an extremely poor prognosis, particularly when seen in the infant and neonatal population. Here we present the case of a newborn female born with a large vaginal mass and evidence of prenatal lower urinary tract obstruction that was determined to be a MRT of vaginal origin. In this report, we will also discuss an overview of extracranial MRT tumor biology and treatment considerations.

Diplopia Related to a Pediatric Cervical Rhabdoid Tumor in 18 F-FDG PET.

ABSTRACT: Increased muscle uptake is commonly seen with 18 F-FDG PET/CT because of an important physiological muscle glucose metabolism. Muscle uptake can express a recent significant muscle activity. However, the absence of muscle uptake is almost never described or interpreted. We describe the case of an 8-year-old boy with extrarenal rhabdoid tumor in the right carotid space. An MRI and an 18 F-FDG PET/CT were performed for the diagnostic workup. There was no uptake in the lateral rectus oculomotor muscle unlike all other oculomotor muscles. The ophthalmological examination found a diplopia confirmed by the Lancaster test.

Atypical Teratoid Rhabdoid Tumor in a Newborn: Can IVF Be a Risk Factor?

BackgroundIn recent years, with the widespread use of assisted reproductive technologies, questions have arisen regarding the possible relationship between these infertile parents with assisted conception procedures and childhood cancers. Case report: We present a 23-day-old newborn conceived by in vitro fertilization (IVF) with a 53 × 46 × 38 mm intracranial mass detected by magnetic resonance imaging on the 15th postnatal day. The mass, removed on 23rd postnatal day, was an Atypical Teratoid Rhabdoid Tumor (ATRT), WHO grade 4. Conclusions: As far as we know, this is the only neonatally detected ATRT. Further studies are needed to investigate whether there is a causal relationship between IVF and childhood cancers.

A case of an atypical teratoid/rhabdoid tumor with distinctive histology in the pineal region in an adult patient.

A 31-year-old man suffered from headaches and presented at a hospital after the symptom worsened. Obstructive hydrocephalus and a pineal tumor were identified, and he was transferred to our hospital for further investigation and treatment. Cranial computed tomography revealed a hypodense mass lesion on the right of the pineal region, and calcifications and enlargement of the lateral and third cerebral ventricles were also evident. Blood tests were negative for all tumor markers. Laparoscopic biopsy and third-ventricle fenestration were performed that day as an emergency surgery to treat the obstructive hydrocephalus. Postoperative cranial magnetic resonance imaging revealed a solid tumor that was hypointense on T1-weighted imaging, hyperintense on T2-weighted imaging, and heterogeneously enhanced by Gd. Subsequently, the tumor increased in size, and craniotomy and tumorectomy were performed. Histologically, the tumor proliferated as round or short spindle-shaped cells in a myxoid matrix, forming arrays that surrounded the blood vessels. As a few cells with eosinophilic cytoplasm were also present and immunostaining for INI-1 was negative, the patient was diagnosed with atypical teratoid/rhabdoid tumor (AT/RT). AT/RT of the pineal region in adults is rare, and herein, we report the morphological characteristics of this case and reviewed the relevant literature.

Infantile Atypical Teratoid Rhabdoid Tumor of the Spine Presenting with Acute Hydrocephalus.

INTRODUCTION: Central nervous system atypical teratoid rhabdoid tumors (ATRTs) are aggressive lesions usually presenting during the first 3 years of life. These tumors have a dismal prognosis with most patients dying within 1 year from presentation. Primary spinal location in infants is very rare. CASE PRESENTATION: We report a case of a 4-month-old boy who presented with a history of hypotonia, poor head control, and gradually reduced level of consciousness, over the past week. Computed tomography (CT) showed acute hydrocephalus with no underlying intracranial pathology. A ventriculoperitoneal shunt was inserted acutely. Postoperatively, ventilator weaning was unsuccessful. MRI of the brain and whole spine revealed an intraspinal extradural contrast-enhancing heterogenous mass in the subaxial cervical spine extending to the thoracic cavity. A biopsy was taken through a transthoracic approach, and histopathology confirmed the diagnosis of ATRT. Several cycles of radiation therapy and chemotherapy were given but the tumor progressed both locally and intracranially. Eventually, pupils became dilated and fixed. Brain CT scan showed widespread ischemic lesions and an extensive intracranial tumor extension with massive bleeding. The child eventually died 110 days after admission. CONCLUSIONS: In infants presenting with acute hydrocephalus where an obvious intracranial cause is not detected, the whole neuraxis should be screened. However, despite aggressive measures and advances in multimodality treatment, prognosis of ATRT remains dismal.

Meningioma with rhabdoid features combined with meningioangiomatosis in infancy: a novel combination.

Meningioangiomatosis is a rare histologically distinct abnormality that is occasionally associated with intracranial meningioma. The rhabdoid variant of meningioma is also uncommon and is classified as a World Health Organization Grade III tumour. We report a case of meningioangiomatosis in conjunction with a meningioma with prominent rhabdoid features, in an infant male who underwent complete surgical resection of the lesion. The patient has been followed up for 6 years with no disease recurrence. To our knowledge, this is the first report in the literature describing meningioangiomatosis combined with a meningioma with rhabdoid features.

Primary spinal atypical teratoid/rhabdoid tumour presenting with hematomyelia and subarachnoid haemorrhage-a case report.

Atypical teratoid/rhabdoid tumours (AT/RTs) are highly aggressive and uncommon malignant tumours of the central nervous system (CNS) affecting children younger than 3 years of age. Primary spinal cord involvement is an extremely rare presentation. AT/RTs show necrosis and haemorrhages on histopathology frequently. However, spinal atypical teratoid/rhabdoid tumour (AT/RT) with hematomyelia and spinal subarachnoid haemorrhage (SAH), as seen in our case, has never been reported in the literature in the paediatric age group. We report a case of primary spinal AT/RT in a 3-year-old male child presenting acutely with hematomyelia and spinal SAH and try to elucidate its pathophysiological basis.

Isolated Pure Malignant Rhabdoid Tumor (MRT) of the Bladder: Case Report and Lessons Learned.

Pediatric extrarenal malignant rhabdoid tumors (MRTs) are rare, aggressive tumors with a poor prognosis (20% 5-year survival). There are currently fewer than 10 published case reports of primary MRT of the bladder. We report the case of an 18-month-old female with an isolated MRT of the bladder which was initially misdiagnosed as an inflammatory myofibroblastic tumor on biopsy. We review the history, tumor biology, histology, and current management of extrarenal MRT, along with lessons learned from the difficulty with the patient's initial diagnosis.

Malignant rhabdoid tumor of the musk gland and systemic T-cell lymphoma in a masked palm civet (Paguma larvata).

A 21-year-old male masked palm civet died after 2 months of continuous abdominal distention and poor appetite. Grossly, both musk glands were markedly swelled. Microscopically, round, polygonal and spindle neoplastic cells proliferated diffusely in the right musk gland and a metastatic focus was observed in the lung. The neoplastic cells had abundant cytoplasm with faintly eosinophilic inclusions that ultrastructurally corresponded to whorl aggregates of intermediate filaments. Immunohistochemically, these cells were positive for vimentin, cytokeratins and glial fibrillary acidic protein and negative for desmin. Based on these findings, the tumor was diagnosed as malignant rhabdoid tumor. Papillary adenoma was seen in the opposite musk gland. T-cell lymphoma of the lymph nodes, small intestine and liver was considered as the cause of death.

A case of malignant rhabdoid tumor mimicking yolk sac tumor.

Malignant rhabdoid tumors (MRTs) are rare, highly aggressive embryonal neoplasms caused by biallelic alterations of the SMARCB1 gene. MRTs may occur in any soft tissue, but extracranial extrarenal MRTs are extremely rare. Diagnosis of MRTs in unusual locations and with an uncharacteristic cytomorphology that mimics other tumors is difficult. This was an atypical case of MRT in a 15-year-old female with tumors that closely resembled yolk sac tumors. It was extremely challenging to diagnose the tumors without confirming the SMARCB1 status.

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

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. Surgical resection was performed. The pathological examination findings were consistent with ATRT. Despite early surgical intervention, she later died before starting craniospinal radiotherapy and chemotherapy. CONCLUSION: To the best of our knowledge, although known to present with intratumoral hemorrhage, to date, no cases of sellar ATRT have presented with SAH or IVH have been reported. Considering our finding that ATRT can present with SAH and IVH, establishing the correct diagnosis using radiographic imaging, gender, pathological findings, and molecular markers is paramount for speedy treatment and management.

Imaging features of spinal atypical teratoid rhabdoid tumors in children.

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 3.0 T magnetic resonance imaging (MRI) and 64-slice spiral computed tomography (CT). Among these 8 patients, head MR non-enhanced and spinal enhanced scanning was applied to 5 patients, while CT examination was applied to 3 patients.All 8 patients were characterized by cauda equina syndrome. The lesions of 7 patients were in the thoracolumbar spinal junction, while the lesion of the remaining patient was in the lumbar spine. Furthermore, among these patients, the lesions of 5 patients were limited to the intraspinal canal (1 lesion in the epidural space, and 4 lesions in the subdural space), while the lesions of 3 patients invaded the paravertebra (2 lesions in the epidural space and 1 lesion in the subdural space). Three or more spinal segments were invaded by tumors in 7 patients, while sacral canal was affected in 5 patients. All 8 patients experienced bleeding in the tumors. Enhanced MRI revealed meningeal enhancement in 6 patients, and bilateral nerve root enhancement in 4 patients. The masses in 3 patients brought damages to the intervertebral foramen or sacral pore. The lesion of 1 patient was featured by skip growth. One patient had total spinal metastasis and 3 had hydrocephalus. The masses in 2 patients had a slightly low density when detected by CT, and enhanced scanning revealed a mild to moderate enhancement.Spinal AR/TR had the following characteristics: children were characterized by cauda equina syndrome; the mass that invaded the thoracolumbar spinal junction and the extramedullary space of multiple segments grew along the spinal longitudinal axis; bleeding mass was revealed in MRI imaging; meninges, nerve root, and sacral canal metastases occurred. The gold standard for the definite diagnosis of AT/RT is biopsy combined with immunohistochemistry.

Ectopic rhabdoid meningioma of the orbit in a child: case report and review of the literature.

In August 2016, an 11-year-old boy presented to the authors' institution with a right orbital tumor that was located superotemporally (superolaterally) and adherent to the sclera. The patient's past medical history revealed that he had undergone 2 previous craniotomies elsewhere in June 2008 and July 2010 for a superomedially located orbital lesion that had been histopathologically diagnosed as a neurothekeoma. After the second craniotomy, the patient underwent adjuvant intensity modulated radiotherapy (IMRT) to the right medial orbit. At the authors' institution, total excision of the orbital tumor was performed via an anterior conjunctival orbitotomy. Histopathological examination revealed a rhabdoid meningioma. Review of the histopathology obtained at the time of previous tumor excisions showed that the lesion was misdiagnosed as neurothekeoma and instead represented a meningioma from the beginning. The patient was started on a regimen of oral sunitinib and remained free of recurrence at 1.5 years of follow-up. Ectopic meningioma of the orbit is a rare entity. Rhabdoid meningioma is a rarely seen subtype of meningioma, accounting for 1%-3% of all intracranial meningiomas. To the best of the authors' knowledge, this is the first case of an ectopic orbital rhabdoid meningioma reported in the literature. They suspect that tumor seeding during the previous surgeries might have played a role in the occurrence of the tumor in an orbital location not targeted by IMRT.

Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome.

Malignant progression of a benign or low-grade tumor in individuals with germline alteration of SMARCB1 gene is not well characterized. In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member. Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members.

A Case of a 4-Year-Old Female with a Primary Spinal Malignancy Presenting with Froin's Syndrome.

We report the case of a 4-year-old female with a primary extradural intramedullary atypical teratoid/rhabdoid tumor (AT/RT) leading to a middle cerebral artery (MCA) infarct and Froin's syndrome. She presented with a 6-pound weight loss over the previous week, as well as a decreased urinary output and an altered mental status. She underwent a brain MRI that revealed a left MCA infarct, mild ventriculomegaly, and bilateral internal carotid artery, M1, and A1 stenosis. An external ventricular drain (EVD) was placed due to increased intracranial pressure. Cerebrospinal fluid (CSF) was analyzed via lumbar puncture that revealed extremely elevated protein. However, CSF sampled from the EVD was completely normal, a phenomenon called Froin's syndrome. The following day, she developed a right MCA infarct. Her grim prognosis was discussed with her family and care was eventually withdrawn. The patient underwent an autopsy which confirmed a spinal AT/RT. To our knowledge, this is the first reported case of stroke and Froin's syndrome as the initial manifestations of a primary spinal AT/RT with a late onset of spinal cord compression due to tumor obstruction.

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description.

Atypical teratoid rhabdoid tumor (ATRT) is an aggressive tumor of the CNS and characteristically occurs in the pediatric age. In adulthood, ATRT is rare and it is mainly localized in the cerebral hemispheres. Only 16 cases of ATRT have been described in the sellar region up to now. Interestingly, all sellar ATRTs occurred in adult female patients. Herein we report a novel case of sellar ATRT in a patient with previous history of lactotroph adenoma. Similar to other sellar ATRTs, this case occurred in a female adult patient. At histological examination, it was characterized by a small number of rhabdoid cells. In addition, it did not have homozygous deletion of SMARCB1 gene, but it rather showed a frameshift mutation at exon 4 of SMARCB1 which had not been previously found in ATRT. Clinico-pathological and molecular findings observed in this case confirm previous evidence that sellar ATRT seems to be a distinct entity. Association with previous prolactin-secreting pituitary adenoma is discussed.

Rhabdoid Meningioma Arising Concurrent in Pulmonary and Intracranial with a Rare Malignant Clinical Progression: Case Report and Literature Review.

BACKGROUND: Rhabdoid meningioma (RM) is an unusual variant of meningioma, classified as World Health Organization grade III. Although its recurrence is common, extracranial metastasis is rare and usually misdiagnosed. The transfer mechanism and pathway are ambiguous; once the metastasis occurs, the prognosis is poor, and there is no effective management. The present case is the first report of concurrent intracranial and pulmonary RM with rapid and widespread metastasis. We hope this report can serve as a helpful reference for clinicians and radiologists. CASE DESCRIPTION: A 39-year-old woman presented to our hospital complaining of headache and memory disturbances. Magnetic resonance imaging (MRI) of the brain revealed a well-defined, inhomogeneous signal tumor with intense enhancement and severe peritumoral edema. Postoperatively, RM (grade III) was confirmed by histopathology. A chest CT performed 2 weeks later revealed an isolated lung mass, which was confirmed as RM on subsequent surgery. Three months after the first radiotherapy, the cancer had progressed uncommonly rapidly with widespread metastasis to the cerebellum, lung, kidney, and thigh. Gamma knife radiosurgery, chemotherapy, and molecular-targeted therapy were performed; however, the patient's condition continued to worsen, and she died 1 year after the initial operation. CONCLUSIONS: Intracranial RM is a relatively rare tumor with the potential for wide intracranial and extracranial transfer. Cystic components and necrosis can be seen in this type of meningioma. Metastatic meningioma should be kept in mind when dealing with isolated lung lesions. This case report may serve as a helpful reference for clinicians and radiologists.

Elevated FDG Activity in the Nonpneumatized Sphenoid Bone in an Infant.

A 7-month-old boy with malignant rhabdoid tumor of the right lateral neck, status post resection and chemotherapy, underwent FDG PET/CT for restaging. The images showed diffuse increased activity in the spleen and in the bone marrow of the appendicular bones and the spine, which is related to hematopoietin administered after chemotherapy. The images also revealed intense activity in the region of sphenoid bone, which is not a common region to have elevated FDG activity. The subsequent MRI scan showed that this activity was due to not-yet-converted red marrow in the sphenoid bone in this pediatric patient.