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

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

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

scholarly journals ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii280-iii280
Author(s):  
Margaret Shatara ◽  
Ajay Gupta ◽  
Mohamed H Abu Arja ◽  
Suzanne E Conley ◽  
Priyal Patel ◽  
...  
Keyword(s):  
Molecular Profiling ◽  
Rhabdoid Tumor ◽  
The Other ◽  
Hematopoietic Progenitor Cell ◽  
Induction Phase ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Consolidation Phase ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Abstract BACKGROUND Rhabdoid predisposition syndrome is characterized by germline alterations in SMARCB1 or SMARCA4, leading to synchronous or metachronous central nervous system (CNS) and extra-CNS rhabdoid tumors. Rare survivors have been reported to date. METHODS We describe the molecular profiling and treatment regimen of three patients with synchronous atypical teratoid/rhabdoid tumor (ATRT) and malignant rhabdoid tumor of the kidney (MRT-K). All patients underwent radical nephrectomy of the kidney, and gross total resection of the primary CNS tumor was achieved for two patients. An intensive chemotherapy regimen was administered; an induction phase based on the modified Third Intergroup Rhabdomyosarcoma Study (IRS-III) for ATRT followed by a consolidation phase with three cycles of high-dose chemotherapy and autologous hematopoietic progenitor cell rescue, without irradiation. All three patients were enrolled on an institutional comprehensive genomic profiling protocol. RESULTS A germline focal 22q deletion, including SMARCB1, was detected in two patients, while the third patient had a maternally-inherited heterozygous frameshift variant in SMARCB1. Somatic loss of heterozygosity of 22q was identified in all patients, resulting in biallelic inactivation of SMARCB1. Divergent tumor subgroups were described using DNA methylation. The three MRT-K samples were classified as MYC subtype. One ATRT was classified as SHH while the other as TYR. One patient is currently three years off-therapy without evidence of disease, while the other two patients have completed the consolidation phase without recurrent disease. CONCLUSION Molecular profiling of CNS and extra-CNS rhabdoid tumors revealed different epigenetic subgroups. An intensive multimodal therapeutic approach without irradiation may achieve prolonged survival.

TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor

2018 ◽  
Vol 21 (6) ◽  
pp. 522-527
Author(s):  
Virginia E Duncan ◽  
Jason A Wicker ◽  
David R Kelly ◽  
Rong Li
Keyword(s):  
Chromosomal Translocation ◽  
Scoring Systems ◽  
Staining Intensity ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Tissue Sections ◽  
Atypical Teratoid ◽  
The Central Nervous System ◽  
Rhabdoid Tumors

Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MRT and ATRT. We stained whole-tissue sections of 18 archived cases of MRT and ATRT with TLE1. Nuclear expression was scored using a 4-tiered (0, 1+, 2+, and 3+) scale describing staining intensity, extent, or combination of both. The majority of MRT and ATRT cases showed some TLE1 immunoreactivity (n = 16; 89% for ≥1 + staining); 14 (78%) of total cases showed ≥2 + positivity using any of the 3 scoring systems. Over half (n = 10; 56%) of cases showed ≥2 + staining; 4 (22%) cases showed 3 + strong and diffuse TLE1 staining measured by all scoring systems in agreement. Although still of potential use, we urge caution in the interpretation of TLE1 when the differential diagnosis includes both SS and MRT or ATRT.

scholarly journals Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant

2020 ◽  
Vol 10 (4) ◽  
Author(s):  
Vivian Tang ◽  
Peter Michael Conner ◽  
Jason Paul Tovar ◽  
Regina Frances GandourEdwards ◽  
Reuben Antony ◽  
...  
Keyword(s):  
Urinary Bladder ◽  
Term Infant ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Atypical Teratoid

Pediatric primary spinal atypical teratoid rhabdoid tumor: a case series and review of the literature

2019 ◽  
Vol 24 (3) ◽  
pp. 267-283 ◽  
Author(s):  
Daphne Li ◽  
Daniel M. Heiferman ◽  
Hasan R. Syed ◽  
João Gustavo Santos ◽  
Robin M. Bowman ◽  
...  
Keyword(s):  
Systemic Disease ◽  
Case Series ◽  
Rhabdoid Tumor ◽  
The Body ◽  
Cell Transplant ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Medline Search ◽  
Patients Âgés ◽  
Atypical Teratoid

Atypical teratoid rhabdoid tumors (ATRTs) are rare malignant central nervous system tumors, commonly occurring before 3 years of age. Median overall survival (OS) of patients with these tumors is about 1 year, despite aggressive multimodal therapy. Pediatric primary spinal ATRTs are even more rare, with fewer than 50 cases reported. The authors present a series of four patients who were treated at Ann and Robert H. Lurie Children’s Hospital of Chicago in the period from 1996 to 2017.These patients, with ages 2–11 years, presented with pain and a decline in motor functions. They were found to have lesions in the lumbar, thoracic, and/or cervical spine. One patient’s tumor was intramedullary with exophytic components, while another patient’s tumor had both intra- and extradural components. All patients underwent resection followed by chemotherapy (systemic and intrathecal). Two patients had fractionated radiation therapy and one had an autologous stem cell transplant. Three patients are known to be deceased (OS 8.5–45 months). The fourth patient was in remission 19 years after her initial diagnosis. To the authors’ knowledge, this is the largest series of pediatric primary spinal ATRTs documented at a single institution. These cases illustrate a variety of presentations of spinal ATRT and add to the body of literature on this aggressive pathology.A systematic MEDLINE search was also conducted using the keywords “atypical teratoid rhabdoid tumor,” “pediatric spinal rhabdoid tumor,” and “malignant rhabdoid tumor spine.” Reports were included for patients younger than 21 years, without evidence of intracranial or systemic disease at the time of diagnosis. Clinical characteristics and outcomes of the four institutional cases were compared to those in the literature. This review yielded an additional 48 cases of primary pediatric spinal ATRTs reported in the English-language literature. Patients (ages 2 months to 19 years) presented with symptoms of pain, regression of motor function, and spinal cord compression. The majority of tumors were intradural (14 extramedullary, 8 intramedullary, 1 both). Eleven cases in the literature described tumors limited to extradural structures, while 10 tumors involved the intra- and extradural spine. Four reports did not specify tumor location. Although rare, spinal ATRT should be considered in the differential diagnosis of pediatric patients presenting with a new spinal mass.

scholarly journals Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature

2018 ◽  
Vol 6 ◽  
pp. 2050313X1877529
Author(s):  
Marc-Alain Babi ◽  
Peter Fecci ◽  
Matthew Luedke ◽  
Olinda Pineda ◽  
Yasmin Ali O’Keefe
Keyword(s):  
Brain Biopsy ◽  
Rhabdoid Tumor ◽  
Leptomeningeal Disease ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Review Of The Literature ◽  
Progressive Encephalopathy ◽  
Atypical Teratoid ◽  
Aggressive Tumor ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Central nervous system atypical teratoid rhabdoid tumors are very rare aggressive tumor of childhood, primarily occurring at age of less than 3 years old. The prognosis of these tumors is very poor, with a reported median survival of 6–12 months in most cases. Treatment typically consists of aggressive chemotherapy and radiotherapy. We present the case of a 65-year-old man who presented with progressive encephalopathy and change in personality over 3 months period. The patient had further accelerated decline over 3 weeks. The diagnosis of atypical teratoid rhabdoid tumor initially remained elusive despite very extensive workup, but was eventually confirmed via open brain biopsy. To the best of our knowledge, this is the oldest reported case of atypical teratoid rhabdoid tumor in the literature. We further extend the spectrum of this rare disease.

scholarly journals MON-262 A Case of the Suprasellar Atypical Teratoid Rhabdoid Tumor (ATRT) Presenting in an Adult Treated with Intrathecal Chemotherapy

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Omar Oraibi ◽  
Christine Mau ◽  
Lekhaj Daggubati ◽  
Yahya Khormi ◽  
Andrea Manni ◽  
...  
Keyword(s):  
Internal Control ◽  
Intrathecal Chemotherapy ◽  
Rhabdoid Tumor ◽  
Biological Behavior ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
First Case ◽  
Initial Surgery ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Abstract Background: Atypical teratoid rhabdoid tumors (ATRTs) are highly malignant tumors that usually present as a posterior fossa mass in children less than 3 years old. Only 38 cases have been reported in adults. They are also typically located in the supratentorial region. In none of the reported cases of suprasellar ATRT in the adult, intrathecal chemotherapy (via ommaya) has been used. Clinical case: A 70-year-old woman presented with a severe headache and magnetic resonance imaging (MRI) revealed a suprasellar mass measuring 2.9 x 2.1 x 3.0 cm. Shortly after her presentation, she developed an acute 3rd nerve palsy, and repeat MRI found dramatic interval growth. A transsphenoidal approach for biopsy/resection was attempted, but the lesion was not accessible via this corridor. She then underwent a right frontotemporal craniotomy and subsequently developed panhypopituitarism, including diabetes insipidus. Pathology revealed poorly differentiated malignant cells. Immunohistochemistry was positive for synaptophysin, Epithelial Membrane Antigen (EMA), Tumor protein p53, and negative for integrase interactor 1 (INI-1 antibody) with loss of expression in tumor nuclei with positive internal control in endothelial cells. These findings confirmed the diagnosis of ATRT. The Ki-67 index was 60% consistent with a highly proliferative tumor. One month later, she developed acute mental status change. Repeat computed tomography, and MRI showed recurrence of the tumor at the same location with new leptomeningeal enhancement involving the left facial nerve. Multimodal treatment was instituted, consisting of intraventricular/intrathecal chemotherapy with etoposide and topotecan plus fractionated external beam cranial irradiation (30 Gy in 10 fractions). She continued to deteriorate, and following consultation with her family, she was transferred to hospice care and died six months following her initial surgery. Conclusion: This is the first case of adult suprasellar ATRT that has been treated with intrathecal chemotherapy. There is no consensus on the best combination of chemotherapy, and often the St. Jude’s protocol used in the treatment of pediatric ATRT is used. In line with the biological behavior reported for this tumor in children and adults in different locations, the tumor was very aggressive, resulting in the patient’s death only after 6 months from the diagnosis despite aggressive surgical and medical treatment. Reference: 1. Athale, U. H., J. Duckworth, I. Odame, and R. Barr. 2009. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J. Pediatr. Hematol. Oncol. 31:651-663. 2. Shonka N, Armstrong T (2011) Atypical teratoid/rhabdoid tumors in adults: A case report and treatment-focused review. J Clin Med Res 3: 85-92.

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