Primitive neuroectodermal tumors of the brainstem in children treated according to the HIT trials: clinical findings of a rare disease

2015 ◽  
Vol 15 (3) ◽  
pp. 227-235 ◽  
Author(s):  
Carsten Friedrich ◽  
Monika Warmuth-Metz ◽  
André O. von Bueren ◽  
Johannes Nowak ◽  
Brigitte Bison ◽  
...  
Keyword(s):  
Survival Rate ◽  
Residual Disease ◽  
Case Series ◽  
Population Based ◽  
Postoperative Treatment ◽  
Subtotal Resection ◽  
Maintenance Chemotherapy ◽  
Primitive Neuroectodermal Tumors ◽  
Axial Diameter ◽  
Neuroectodermal Tumors

OBJECT Primitive neuroectodermal tumors of the central nervous system (CNS-PNET) arising in the brainstem are extremely rare, and knowledge about them is limited. The few existing case series report fatal outcomes. The purpose of this study was to analyze clinical characteristics of and outcome for brainstem CNS-PNET patients treated according to the consecutive, population-based HIT studies covering a 19-year time period. METHODS Between September 1992 and November 2011, 6 eligible children with histologically proven brainstem CNS-PNET not otherwise specified and 2 children with brainstem ependymoblastomas (3, partial resection; 3, subtotal resection; 2, biopsy), median age 3.3 years (range 1.2–10.6 years), were treated according to consecutive multimodal HIT protocols for CNS-PNET/medulloblastoma. Postoperative treatment was according to maintenance chemotherapy protocols (3, craniospinal irradiation [CSI] followed by maintenance chemotherapy), sandwich chemotherapy protocols (2, neoadjuvant chemotherapy, CSI, maintenance chemotherapy), or a therapy protocol for children younger than 4 years (3, postoperative chemotherapy followed by CSI). RESULTS The median duration of prediagnostic symptoms, predominantly cranial nerve deficits (n = 7), pyramidal tract signs (n = 5), or ataxia (n = 5), was 5 weeks (range 1–13 weeks). The tumors were all located in the pons. Most involved more than half of the pontine axial diameter and were sharply marginated. All patients had postoperative residual disease, including metastasis in 1 case. With 1 exception all tumors progressed early during treatment within 3.9 months (range 2.5–10.4 months), leading to a 1-year event-free survival rate (± standard error) of 13% ± 12%. After progression, patients succumbed early to their disease resulting in a 1-year overall survival rate of 25% ± 15%. The only surviving patient had a partially resected CNS-PNET, received a sandwich chemotherapy protocol, and is without disease progression 14 months after diagnosis. CONCLUSIONS CNS-PNET is a rare but important differential diagnosis in childhood brainstem tumors. So far, efficient therapies are lacking. The sampling of tumor material for improved biological understanding and identification of new therapeutic targets is important.

Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

2021 ◽  
Author(s):  
Xuefeng Wei ◽  
Xu Zhang ◽  
Zimu Song ◽  
Feng Wang
Keyword(s):  
Literature Review ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Subtotal Resection ◽  
Study Cohort ◽  
Primitive Neuroectodermal Tumors ◽  
Pathologic Features ◽  
Neuroectodermal Tumors ◽  
The Mean

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

1796 CASE SERIES OF PRIMARY PRIMITIVE NEUROECTODERMAL TUMORS OF THE KIDNEY

2013 ◽  
Vol 189 (4S) ◽  
Author(s):  
Timothy Donahue ◽  
Ian Vela ◽  
Daniel Casella ◽  
Timothy Lyon ◽  
A Ari Hakimi ◽  
...  
Keyword(s):  
Case Series ◽  
Primitive Neuroectodermal Tumors ◽  
Neuroectodermal Tumors

Alternative EWS-FLI1 fusion gene and MIC2 expression in peripheral and central primitive neuroectodermal tumors

2001 ◽  
Vol 21 (1) ◽  
pp. 40-44 ◽  
Author(s):  
Nobuaki Ishii ◽  
Hiroaki Hiraga ◽  
Yutaka Sawamura ◽  
Yumiko Shinohe ◽  
Kazuo Nagashima
Keyword(s):  
Fusion Gene ◽  
Primitive Neuroectodermal Tumors ◽  
Neuroectodermal Tumors

scholarly journals Minimum 10-Year Clinical Outcome of Lateral Collagen Meniscal Implants for the Replacement of Partial Lateral Meniscal Defects: Further Results From a Prospective Multicenter Study

2021 ◽  
Vol 9 (5) ◽  
pp. 232596712199491
Author(s):  
Alberto Grassi ◽  
Gian Andrea Lucidi ◽  
Giuseppe Filardo ◽  
Piero Agostinone ◽  
Luca Macchiarola ◽  
...  
Keyword(s):  
Survival Rate ◽  
Case Series ◽  
Final Analysis ◽  
Activity Level ◽  
Long Term Results ◽  
Level Of Evidence ◽  
Unicompartmental Knee Arthroplasties ◽  
Tegner Score

Background: The collagen meniscal implant (CMI) is a biologic scaffold aimed at replacing partial meniscal defects. The long-term results of lateral meniscal replacement have never been investigated. Purpose: To document the clinical outcomes and failures of lateral CMI implantation for partial lateral meniscal defect at a minimum 10-year follow-up. Study Design: Case series; Level of evidence, 4, Methods: This study included 24 consecutive patients who underwent lateral CMI implantation for partial lateral meniscal defects between April 2006 and September 2009 and who were part of a previous study with a 2-year follow-up. Outcome measures at the latest follow-up included the Lysholm score, Knee injury and Osteoarthritis Outcome Score, visual analog scale (VAS) for pain, Tegner activity level, and EuroQol 5-Dimensions score. Data regarding complications and failures were collected, and patients were asked about their satisfaction with the procedure. Results: Included in the final analysis were 19 patients (16 male, 3 female) with a mean age at surgery of 37.1 ± 12.6 years and a mean follow-up of 12.4 ± 1.5 years (range, 10-14 years). Five failures (26%) were reported: 1 CMI removal because of implant breakage and 4 joint replacements (2 unicompartmental knee arthroplasties and 2 total knee arthroplasties). The implant survival rate was 96% at 2 years, 85% at 5 years, 85% at 10 years, 77% at 12 years, and 64% at 14 years. Lysholm scores at the final follow-up were rated as “excellent” in 36% (5 of 14 nonfailures), “good” in 43% (6 of 14), and “fair” in 21% (3 of 14). The VAS score was 3.1 ± 3.1, with only 16% (3 of 19 patients) reporting that they were pain-free; the median Tegner score was 3 (interquartile range, 2-5). All clinical scores decreased from the 2-year follow-up; however, with the exception of the Tegner score, they remained significantly higher compared with the preoperative status. Overall, 79% of patients were willing to undergo the same procedure. Conclusion: Lateral CMI implantation for partial lateral meniscal defects provided good long-term results, with a 10-year survival rate of 85% and a 14-year survival rate of 64%. At the final follow-up, 58% of the patients had “good” or “excellent” Lysholm scores. However, there was a general decrease in outcome scores between the short- and the long-term follow-up.

Long-term Outcomes of Microfracture for Treatment of Osteochondral Lesions of the Talus

2021 ◽  
pp. 107110072199542
Author(s):  
Daniel Corr ◽  
Jared Raikin ◽  
Joseph O’Neil ◽  
Steven Raikin
Keyword(s):  
Survival Rate ◽  
Case Series ◽  
Return To Sport ◽  
Osteochondral Lesions ◽  
Long Term Outcomes ◽  
Level Of Evidence ◽  
Additional Surgery ◽  
Case Series Study

Background: Microfracture is the most common reparative surgery for osteochondral lesions of the talus (OLTs). While shown to be effective in short- to midterm outcomes, the fibrocartilage that microfracture produces is both biomechanically and biologically inferior to that of native hyaline cartilage and is susceptible to possible deterioration over time following repair. With orthobiologics being proposed to augment repair, there exists a clear gap in the study of long-term clinical outcomes of microfracture to determine if this added expense is necessary. Methods: A retrospective review of patients undergoing microfracture of an OLT with a single fellowship-trained orthopedic surgeon from 2007 to 2009 was performed. Patients meeting the inclusion criteria were contacted to complete the Foot and Ankle Ability Measure (FAAM) Activities of Daily Living (ADL) and Sports subscales and visual analog scale (VAS) for pain, as well as surveyed regarding their satisfaction with the outcome of the procedure and their likelihood to recommend the procedure to a friend with the same problem using 5-point Likert scales. Patient demographics were reviewed and included for statistical analysis. Results: Of 45 respondents, 3 patients required additional surgery on their ankle for the osteochondral defect, yielding a 10-year survival rate of 93.3%. Of surviving cases, 90.4% (38/42) reported being “extremely satisfied” or “satisfied” with the outcome of the procedure. The VAS score at follow-up averaged 14 out of 100 (range, 0-75), while the FAAM-ADL and FAAM-Sports scores averaged 90.29 out of 100 and 82 out of 100, respectively. Thirty-six patients (85.7%) stated that their ankle did not prevent them from participating in the sports of their choice. Conclusion: The current study represents a minimum 10-year follow-up of patients undergoing isolated arthroscopic microfracture for talar osteochondral defects, with a 93.3% survival rate and 85.7% return to sport. While biological adjuvants may play a role in improving the long-term outcomes of microfracture procedures, larger and longer-term follow-up studies are required for procedures using orthobiologics before their cost can be justified for routine use. Level of Evidence: Level IV, retrospective cohort case series study.

scholarly journals PATH-08. THE IMPORTANCE OF RE-DIAGNOSIS OF TUMORS PREVIOUSLY CLASSIFIED AS CENTRAL NERVOUS SYSTEM PRIMITIVE NEUROECTODERMAL TUMORS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii426-iii426
Author(s):  
Naohide Fujita ◽  
Osamu Akiyama ◽  
Akihide Kondo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Tumors ◽  
Easy Access ◽  
Molecular Analyses ◽  
Primitive Neuroectodermal Tumors ◽  
Neuroectodermal Tumors ◽  
Sanger Sequence ◽  
Embryonal Brain ◽  
Polymerase Chain

Abstract BACKGROUND The recent molecular analyses have revealed that central nervous system primitive neuroectodermal tumors (CNS PNETs) those having clusters of small round tumor cells are genetically different tumors. However, the concepts of CNS PNET are complicated, and it is difficult to diagnose them appropriately in clinical field. To overcome this difficulty, we reviewed previous studies associated with CNS PNETs, and carried out several approaches, those are relatively easy access to use in clinics, for our 8 samples of embryonal brain tumors diagnosed CNS PNETs in our institution, initially. METHODS We used in combination with immunohistochemistry (IHC), Sanger sequence, Pyrosequence, polymerase chain reaction (PCR), real time PCR and copy number analysis referring recent reports. RESULTS In terms of the diagnosis three out of 8 cases were changed based on the results in this study from previous diagnoses. CONCLUSION In this review, it seemed that either the histopathological evaluation or molecular analyses would be not enough to make accurate diagnosis of CNS embryonal brain tumors, and it is essential to combine both of them including recent comprehensive analysis methods.

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