scholarly journals ATRT-04. INHERITED RHABDOID PREDISPOSITION SYNDROME: A CASE OF CHOROID PLEXUS CARCINOMA AND ATYPICAL TERATOID RHABDOID TUMOR IN SIBLINGS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii276-iii276
Author(s):  
Alexis Judd ◽  
Erin Wright ◽  
Sarah Rush
Keyword(s):  
Overall Survival ◽  
Choroid Plexus ◽  
Disease Recurrence ◽  
Genetic Alterations ◽  
Rhabdoid Tumor ◽  
Choroid Plexus Carcinoma ◽  
High Dose ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Increased Risk ◽  
Atypical Teratoid

Abstract Choroid plexus carcinoma (CPC) and Atypical teratoid/rhabdoid tumor (ATRT) are aggressive, malignant brain cancers most commonly arising in children less than 3 years of age. These tumors often have genetic alterations in the tumor suppressor gene SMARCB1/INI1. Rhabdoid predisposition syndrome (RTPS) categorizes patients with germline mutations in SMARCB1 or SMARCA4, leading to a markedly increased risk of developing rhabdoid tumors. Both CPC and ATRT have been demonstrated in patients with these rhabdoid predisposition syndromes. In general, these tumors tend to have a poor prognosis. However, with the presence of a SMARCB1 mutation they may have improved overall survival. We present two interesting cases of siblings with maternally inherited SMARCB1 mutations: one a 21-month-old male who presented with an ATRT and another a 10 month old female who presented with a CPC. The ATRT was treated as per the Children’s Oncology Group study ACNS0333 with high dose chemotherapy and stem cell rescue as well as cranial radiation. The CPC was treated as per CPT-SIOP 2009 with etoposide, cyclophosphamide and vincristine. Unlike other patients with these aggressive tumors, both of these patients are alive without evidence of disease recurrence 8 and 7 years post therapy, respectively. Additional genomic testing on both tumors is currently pending in order to potentially identify other mutations that may impact survival. These cases further illustrate the similar profile of two very different tumors with improved overall survival that may be secondary to mutations in SMARCB1 in RTPS.

scholarly journals INI1 Protein Expression Distinguishes Atypical Teratoid/Rhabdoid Tumor from Choroid Plexus Carcinoma

2005 ◽  
Vol 64 (5) ◽  
pp. 391-397 ◽  
Author(s):  
Alexander R. Judkins ◽  
Peter C. Burger ◽  
Ronald L. Hamilton ◽  
Bette Kleinschmidt-DeMasters ◽  
Arie Perry ◽  
...  
Keyword(s):  
Protein Expression ◽  
Choroid Plexus ◽  
Rhabdoid Tumor ◽  
Choroid Plexus Carcinoma ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Atypical Teratoid

Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein

2009 ◽  
Vol 4 (4) ◽  
pp. 368-371 ◽  
Author(s):  
E. Andrew Stevens ◽  
Constance A. Stanton ◽  
Kyle Nichols ◽  
Thomas L. Ellis
Keyword(s):  
Choroid Plexus ◽  
Rhabdoid Tumor ◽  
Choroid Plexus Carcinoma ◽  
Nuclear Staining ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Imaging Studies ◽  
Atypical Teratoid ◽  
History Of ◽  
The Right

The authors present the case of a rare extraventricular, intraparenchymal choroid plexus carcinoma (CPC). This 6-year-old girl presented to the emergency department with a 1-week history of headaches, nausea, and vomiting. Imaging studies revealed an intraaxial cystic and solid mass located in the right frontal lobe with central nodular enhancement and minimally enhancing cyst walls. Gross-total resection was accomplished via craniotomy without complications. The initial pathological diagnosis was atypical teratoid/rhabdoid tumor (AT/RT); however, immunostaining for INI1 protein (using the BAF47/SNF5 antibody) showed retention of nuclear staining in the tumor cells, resulting in a change in the diagnosis to CPC. There was no evidence of recurrence at the last follow-up 2.5 years after treatment, which supports the diagnosis of CPC over AT/RT. This case emphasizes the importance of immunostaining for INI1 protein for distinguishing CPC from AT/RT in cases with atypical or indeterminate features.

scholarly journals Intensive Multimodality Treatment for Children With Newly Diagnosed CNS Atypical Teratoid Rhabdoid Tumor

2009 ◽  
Vol 27 (3) ◽  
pp. 385-389 ◽  
Author(s):  
Susan N. Chi ◽  
Mary Ann Zimmerman ◽  
Xiaopan Yao ◽  
Kenneth J. Cohen ◽  
Peter Burger ◽  
...  
Keyword(s):  
Overall Survival ◽  
Radiation Therapy ◽  
Objective Response Rate ◽  
Response Rate ◽  
Objective Response ◽  
Malignant Neoplasm ◽  
Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Newly Diagnosed ◽  
Atypical Teratoid

Purpose Atypical teratoid rhabdoid tumor (ATRT) of the CNS is a highly malignant neoplasm primarily affecting young children, with a historic median survival ranging from 6 to 11 months. Based on a previous pilot series, a prospective multi-institutional trial was conducted for patients with newly diagnosed CNS ATRT. Patients and Methods Treatment was divided into five phases: preirradiation, chemoradiation, consolidation, maintenance, and continuation therapy. Intrathecal chemotherapy was administered, alternating intralumbar and intraventricular routes. Radiation therapy (RT) was prescribed, either focal (54 Gy) or craniospinal (36 Gy, plus primary boost), depending on age and extent of disease at diagnosis. Results Between 2004 and 2006, 25 patients were enrolled; 20 were eligible for evaluation. Median age at diagnosis was 26 months (range, 2.4 months to 19.5 years). Gross total resection of the primary tumor was achieved in 11 patients. Fourteen patients had M0 disease at diagnosis, one patient had M2 disease, and five patients had M3 disease. Fifteen patients received radiation therapy: 11 focal and four craniospinal. Significant toxicities, in addition to the expected, included radiation recall (n = 2) and transverse myelitis (n = 1). There was one toxic death. Of the 12 patients who were assessable for chemotherapeutic response (pre-RT), the objective response rate was 58%. The objective response rate observed after RT was 38%. The 2-year progression-free and overall survival rates are 53% ± 13% and 70% ± 10%, respectively. Median overall survival has not yet been reached. Conclusion This intensive multimodality regimen has resulted in a significant improvement in time to progression and overall survival for patients with this previously poor-prognosis tumor.

scholarly journals Imatinib mesylate treatment for platelet-derived growth factor receptor alfa-positive choroid plexus carcinoma

2012 ◽  
Vol 2 (2) ◽  
pp. 49 ◽  
Author(s):  
Chihiro Kawakami ◽  
Akiko Inoue ◽  
Kimitaka Takitani ◽  
Motomu Tsuji ◽  
Kimiko Wakai ◽  
...  
Keyword(s):  
Growth Factor ◽  
Choroid Plexus ◽  
Standard Dose ◽  
Growth Factor Receptor ◽  
Female Child ◽  
Disease Recurrence ◽  
Choroid Plexus Carcinoma ◽  
High Dose ◽  
Imatinib Treatment ◽  
Stem Cell Rescue

We herein report a female child with choroid plexus carcinoma treated with standard dose of imatinib at disease recurrence. This patient failed initial twice-surgical resections, central nervous system (CNS) irradiation, and adjuvant chemotherapies and high-dose thiotepa and melphalan with auto peripheral blood stem cell rescue. Finally, imatinib treatment was undergone as a palliative setting, however the tumor did not reduce and the patient died of tumor bleedings. We consider that the reasons for the failure are as follows: i) adequate CNS level of imatinib were not obtained because of the blood brain barrier, ii) the lack of plateletderived growth factor receptor beta expression in our case may have a crucial role.

scholarly journals Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333

2020 ◽  
Vol 38 (11) ◽  
pp. 1175-1185 ◽  
Author(s):  
Alyssa T. Reddy ◽  
Douglas R. Strother ◽  
Alexander R. Judkins ◽  
Peter C. Burger ◽  
Ian F. Pollack ◽  
...  
Keyword(s):  
Molecular Subtype ◽  
High Dose Chemotherapy ◽  
Rhabdoid Tumor ◽  
High Dose ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Primary Analysis ◽  
Historical Cohort ◽  
Entire Cohort ◽  
Atypical Teratoid ◽  
Group Trial

PURPOSE Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive, early-childhood brain tumor without standard effective treatment. To our knowledge, we conducted the first AT/RT-specific cooperative group trial, ACNS0333, to examine the efficacy and safety of intensive postoperative chemotherapy and focal radiation to treat AT/RT. PATIENTS AND METHODS Patients from birth to 22 years of age with AT/RT were eligible. After surgery, they received 2 courses of multiagent chemotherapy, followed by 3 courses of high-dose chemotherapy with peripheral blood stem cell rescue and involved-field radiation therapy. Timing of radiation was based on patient age and disease location and extent. Central testing of tumor and blood for SMARCB1 status was mandated. Tumor molecular subclassification was performed retrospectively. The primary analysis was event-free survival (EFS) for patients < 36 months of age compared with a cooperative groups’ historical cohort. Although accrual was based on the therapeutic question, potential prognostic factors, including age, tumor location, M stage, surgical resection, order of therapy, germline status, and molecular subtype, were explored. RESULTS Of 65 evaluable patients, 54 were < 36 months of age. ACNS0333 therapy significantly reduced the risk of EFS events in patients < 36 months of age compared with the historical cohort ( P < .0005; hazard rate, 0.43; 95% CI, 0.28 to 0.66). Four-year EFS and overall survival for the entire cohort were 37% (95% CI, 25% to 49%) and 43% (95% CI, 31% to 55%), respectively. Timing of radiation did not affect survival, and 91% of relapses occurred by 2 years from enrollment. Treatment-related deaths occurred in 4 patients. CONCLUSION The ACNS0333 regimen dramatically improved survival compared with historical therapies for patients with AT/RT. Clinical characteristics and molecular subgrouping suggest prognostic differences. ACNS0333 results lay a foundation on which to build future studies and incorporate testing of new therapeutic agents.

scholarly journals ATRT-30. RETROSPECTIVE ANALYSIS OF CHILDREN WITH ATYPICAL TERATOID RHABDOID TUMOR TREATED ACCORDING TO ACNS0333

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii281-iii282
Author(s):  
Lindsey Hoffman ◽  
Ashley Margol ◽  
Kelly Faulk ◽  
Sara Hutchins ◽  
Gregory Friedman ◽  
...  
Keyword(s):  
Residual Disease ◽  
Tumor Location ◽  
High Dose Chemotherapy ◽  
Rhabdoid Tumor ◽  
Published Data ◽  
High Dose ◽  
Primary Therapy ◽  
Central Nervous System Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Atypical Teratoid

Abstract Atypical teratoid rhabdoid tumor (ATRT) is a central nervous system tumor with poor outcome. ACNS0333, a Children’s Oncology Group phase 3 trial, enrolled 65 evaluable patients who received two cycles of induction chemotherapy, three cycles of consolidative high-dose chemotherapy (HDCT), and focal radiation therapy (RT) pre- or post-consolidation. Craniospinal irradiation (CSI) was left to clinician discretion. We retrospectively analyzed medical records of 27 children treated at our institutions according to ACNS0333. Median age at diagnosis was 14 months (range 4–165); 13 (48%) were male. M-stage was M0, M2, and M3 for 18 (66%), 5 (19%), and 4 (15%), respectively. Tumor location was supratentorial (n=14, 52%), infratentorial (n=12, 44%), or both (n=1, 4%). Complete resection was achieved for 17 (63%). All but one completed induction. Of 13 (51%) with residual disease at diagnosis, 5 (36%) and 7 (50%), respectively, exhibited complete and partial response to induction. Three patients progressed on therapy, and six progressed after completion of therapy at a median of 9.7 months. In all, 18 patients completed RT (16 focal/4 CSI and 6 pre-/12 post-consolidation). Three died of therapy-related toxicity (two in primary therapy and one in relapse therapy), and 8 died of disease. Sixteen patients (59%) are alive at a median follow up of 53 months (range 9–114). Of 17 with germline testing, eight (47%) had rhabdoid predisposition syndrome of whom three are alive. At the time of presentation, data for approximately 50 patients is expected, and we will compare outcomes to soon-to-be published data from ACNS0333.

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