scholarly journals RARE-48. GROWING KNOWLEDGE AND EMERGING QUESTIONS RELATED TO POT-1 GERMLINE MUTATIONS AND ASSOCIATED MALIGNANCIES: A CASE REPORT

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi232-vi232
Author(s):  
Amber Ruiz ◽  
Boryana Eastman ◽  
Lia Halasz ◽  
Gail Jarvik ◽  
Lauren Brown ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Lymphocytic Leukemia ◽  
Heterozygous Mutation ◽  
Total Resection ◽  
Who Grade ◽  
Personality Changes ◽  
Increased Risk ◽  
Protection Of Telomeres 1 ◽  
Who Grade Iii ◽  
Grade Iii

Abstract Protection of telomeres 1 (POT1) is a member of a family of genes responsible for maintenance of telomere integrity. Germline mutations of the POT1 gene have been associated with tumorigenesis of multiple tissue types, conferring an increased risk of development of malignancies such as melanoma, chronic lymphocytic leukemia, gliomas, and cardiac sarcomas. We present the case of a 28 year old male who first presented at the age of 15 with personality changes. Several years later, he was found to have a left frontal, IDH mutated, WHO grade III anaplastic astrocytoma. Following successful treatment with gross total resection, radiation therapy, and adjuvant chemotherapy, the patient represented with an MRI showing enhancement concerning for osteomyelitis and possible tumor recurrence. Pathology of the dura was consistent with myxofibrosarcoma. Staging PET scan at that time revealed multiple hypermetabolic lung lesions found to be Lanagerhans cell histiocytosis. Given the patient’s complex oncological history, genetic testing was performed. He was found to carry a heterozygous mutation of the POT1 gene. This case raises the suspicion for a broader POT1-associated cancer predisposition than previously described in the literature. Moreover, this prompts further questioning of an association between POT1 mutations and IDH status in related gliomas. Patients with POT1 mutations might also be at increased risk of secondary malignancies after radiation exposure, which may require closer observation after treatment.

Independent association of extent of resection with survival in patients with malignant brain astrocytoma

2009 ◽  
Vol 110 (1) ◽  
pp. 156-162 ◽  
Author(s):  
Matthew J. McGirt ◽  
Kaisorn L. Chaichana ◽  
Muraya Gathinji ◽  
Frank J. Attenello ◽  
Khoi Than ◽  
...  
Keyword(s):  
Median Survival ◽  
Extent Of Resection ◽  
Primary Resection ◽  
Gross Total Resection ◽  
Total Resection ◽  
Who Grade ◽  
Factors Associated ◽  
Independent Association ◽  
Who Grade Iii ◽  
Grade Iii

Object With recent advances in the adjuvant treatment of malignant brain astrocytomas, it is increasingly debated whether extent of resection affects survival. In this study, the authors investigate this issue after primary and revision resection of these lesions. Methods The authors retrospectively reviewed the cases of 1215 patients who underwent surgery for malignant brain astrocytomas (World Health Organization [WHO] Grade III or IV) at a single institution from 1996 to 2006. Patients with deep-seated or unresectable lesions were excluded. Based on MR imaging results obtained < 48 hours after surgery, gross-total resection (GTR) was defined as no residual enhancement, near-total resection (NTR) as having thin rim enhancement of the resection cavity only, and subtotal resection (STR) as having residual nodular enhancement. The independent association of extent of resection and subsequent survival was assessed via a multivariate proportional hazards regression analysis. Results Magnetic resonance imaging studies were available for review in 949 cases. The mean age and mean Karnofsky Performance Scale (KPS) score at time of surgery were 51 ± 16 years and 80 ± 10, respectively. Surgery consisted of primary resection in 549 patients (58%) and revision resection for tumor recurrence in 400 patients (42%). The lesion was WHO Grade IV in 700 patients (74%) and Grade III in 249 (26%); there were 167 astrocytomas and 82 mixed oligoastrocytoma. Among patients who underwent resection, GTR, NTR, and STR were achieved in 330 (35%), 388 (41%), and 231 cases (24%), respectively. Adjusting for factors associated with survival (for example, age, KPS score, Gliadel and/or temozolomide use, and subsequent resection), GTR versus NTR (p < 0.05) and NTR versus STR (p < 0.05) were independently associated with improved survival after both primary and revision resection of glioblastoma multiforme (GBM). For primary GBM resection, the median survival after GTR, NTR, and STR was 13, 11, and 8 months, respectively. After revision resection, the median survival after GTR, NTR, and STR was 11, 9, and 5 months, respectively. Adjusting for factors associated with survival for WHO Grade III astrocytoma (age, KPS score, and revision resection), GTR versus STR (p < 0.05) was associated with improved survival. Gross-total resection versus NTR was not associated with an independent survival benefit in patients with WHO Grade III astrocytomas. The median survival after primary resection of WHO Grade III (mixed oligoastrocytomas excluded) for GTR, NTR, and STR was 58, 46, and 34 months, respectively. Conclusions In the authors' experience with both primary and secondary resection of malignant brain astrocytomas, increasing extent of resection was associated with improved survival independent of age, degree of disability, WHO grade, or subsequent treatment modalities used. The maximum extent of resection should be safely attempted while minimizing the risk of surgically induced neurological injury.

scholarly journals 18F-FET-PET-guided gross total resection improves overall survival in patients with WHO grade III/IV glioma: moving towards a multimodal imaging-guided resection

2021 ◽  
Author(s):  
Jonas Ort ◽  
Hussam Aldin Hamou ◽  
Julius M. Kernbach ◽  
Karlijn Hakvoort ◽  
Christian Blume ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Tumor Volume ◽  
Oncological Outcome ◽  
Gross Total Resection ◽  
Treatment Modalities ◽  
Total Resection ◽  
Who Grade ◽  
Fet Pet ◽  
Who Grade Iii ◽  
Grade Iii

Abstract Purpose PET using radiolabeled amino acid [18F]-fluoro-ethyl-L-tyrosine (FET-PET) is a well-established imaging modality for glioma diagnostics. The biological tumor volume (BTV) as depicted by FET-PET often differs in volume and location from tumor volume of contrast enhancement (CE) in MRI. Our aim was to investigate whether a gross total resection of BTVs defined as < 1 cm3 of residual BTV (PET GTR) correlates with better oncological outcome. Methods We retrospectively analyzed imaging and survival data from patients with primary and recurrent WHO grade III or IV gliomas who underwent FET-PET before surgical resection. Tumor overlap between FET-PET and CE was evaluated. Completeness of FET-PET resection (PET GTR) was calculated after superimposition and semi-automated segmentation of pre-operative FET-PET and postoperative MRI imaging. Survival analysis was performed using the Kaplan–Meier method and the log-rank test. Results From 30 included patients, PET GTR was achieved in 20 patients. Patients with PET GTR showed improved median OS with 19.3 compared to 13.7 months for patients with residual FET uptake (p = 0.007; HR 0.3; 95% CI 0.12–0.76). This finding remained as independent prognostic factor after performing multivariate analysis (HR 0.19, 95% CI 0.06–0.62, p = 0.006). Other survival influencing factors such as age, IDH-mutation, MGMT promotor status, and adjuvant treatment modalities were equally distributed between both groups. Conclusion Our results suggest that PET GTR improves the OS in patients with WHO grade III or IV gliomas. A multimodal imaging approach including FET-PET for surgical planning in newly diagnosed and recurrent tumors may improve the oncological outcome in glioma patients.

Outcome and survival following primary and repeat surgery for World Health Organization Grade III meningiomas

2010 ◽  
Vol 113 (2) ◽  
pp. 202-209 ◽  
Author(s):  
Michael E. Sughrue ◽  
Nader Sanai ◽  
Gopal Shangari ◽  
Andrew T. Parsa ◽  
Mitchel S. Berger ◽  
...  
Keyword(s):  
Overall Survival ◽  
Clinical Data ◽  
World Health ◽  
Gross Total Resection ◽  
Total Resection ◽  
Repeat Surgery ◽  
Who Grade ◽  
Kaplan Meier ◽  
Who Grade Iii ◽  
Grade Iii

Object Despite an increased understanding of the biology of malignant meningioma tumor progression, there is a paucity of published clinical data on factors affecting outcomes following treatment for these lesions. The authors present the largest case series to date dealing with these tumors, providing analysis of 63 patients. Methods The authors identified all patients undergoing resection of WHO Grade III tumors at their institution over a 16-year period. They analyzed clinical data from these patients, and performed Kaplan-Meier and Cox regression analyses to determine the impact of different clinical characteristics and different treatment modalities on survival following initial and repeat surgery for these lesions. Results Sixty-three patients met inclusion criteria and were analyzed further. The median clinical follow-up time was 5 years (range 1–22 years). The 2-, 5-, and 10-year overall survival rates following initial operation were 82, 61, and 40%, respectively. Kaplan-Meier analysis demonstrated a marked survival benefit with repeat operation (53 vs 25 months, p = 0.02). Interestingly, patients treated with near-total resection experienced improved overall survival when compared with patients treated with gross-total resection at initial (p = 0.035) and repeat operations (p = 0.005). Twelve (19%) of 63 patients experienced significant neurological morbidity referable to the resection of their tumors. Conclusions Surgery is an effective treatment for WHO Grade III meningiomas at presentation and recurrence; however, aggressive attempts to achieve gross-total resection can be associated with significant neurological risk.

Impact of gross total resection in patients with WHO grade III glioma harboring the IDH 1/2 mutation without the 1p/19q co-deletion

2016 ◽  
Vol 129 (3) ◽  
pp. 505-514 ◽  
Author(s):  
Tomohiro Kawaguchi ◽  
Yukihiko Sonoda ◽  
Ichiyo Shibahara ◽  
Ryuta Saito ◽  
Masayuki Kanamori ◽  
...  
Keyword(s):  
Gross Total Resection ◽  
Total Resection ◽  
Who Grade ◽  
Who Grade Iii ◽  
Grade Iii

Radiotherapy with Concomitant Temozolomide in WHO Grade III Glial Tumors

2008 ◽  
Vol 72 (1) ◽  
pp. S235
Author(s):  
F. Zorlu ◽  
M. Gurkaynak ◽  
U. Selek ◽  
S. Ulger ◽  
A. Turker ◽  
...  
Keyword(s):  
Who Grade ◽  
Glial Tumors ◽  
Who Grade Iii ◽  
Grade Iii

scholarly journals High-grade glioma with anterior skull base erosion and intranasal extension: case report

2017 ◽  
Vol 126 (5) ◽  
pp. 1484-1487 ◽  
Author(s):  
Matthew T. Stib ◽  
Michael Johnson ◽  
Alan Siu ◽  
M. Isabel Almira-Suarez ◽  
Zachary Litvack ◽  
...  
Keyword(s):  
Nasal Cavity ◽  
Skull Base ◽  
Radiation Treatment ◽  
High Grade Glioma ◽  
Brain Parenchyma ◽  
Anterior Skull Base ◽  
High Grade ◽  
Who Grade ◽  
Who Grade Iii ◽  
Grade Iii

The authors describe the case of a large WHO Grade III anaplastic oligoastrocytoma extending through the anterior skull base and into the right nasal cavity and sinuses. Glial neoplasms are typically confined to the intracranial compartment within the brain parenchyma and rarely extend into the nasal cavity without prior surgical or radiation therapy. This 42-year-old woman presented with progressive headaches and sinus congestion. MR imaging findings revealed a large intracranial lesion with intranasal extension. Endoscopic nasal biopsy revealed pathology consistent with an infiltrating glioma. The patient subsequently underwent a combined transcranial/endonasal endoscopic approach for resection of this lesion. Pathological diagnosis revealed a WHO Grade III oligoastrocytoma. This report reviews the mechanisms of extradural glioma extension. To the authors' knowledge, it is the second report of a high-grade glioma exhibiting nasal extension without prior surgical or radiation treatment.

scholarly journals The Expression of Progesterone Receptors in Meningiomas of Different Grades

2019 ◽  
Vol 8 (2) ◽  
pp. 65-69
Author(s):  
Mohammad Tahir ◽  
Tehreem Atif ◽  
Summaya Sohail ◽  
Arfa Nawazish ◽  
Huma Mushtaq
Keyword(s):  
Progesterone Receptor ◽  
Treatment Options ◽  
Progesterone Receptors ◽  
Lower Grade ◽  
Immunoperoxidase Method ◽  
Nuclear Staining ◽  
Who Grade ◽  
Grade Ii ◽  
Who Grade Iii ◽  
Grade Iii

Background: Meningiomas are slow growing intracranial and intraspinal neoplasms with a tendency to recur locally. WHO grades them as I (benign), II (atypical) and III (anaplastic) in order of their increasing aggressiveness, based on histological parameters and brain parenchymal invasion. Progesterone receptors (PR) are more prevalent amongst the lower grade meningiomas. The objective of this study was to determine the immunohistochemical expression of progesterone receptors in meningiomas of different grades.Material and Methods: A total of 100 cases were selected over a period of 2.5 years. Three to five microns’ thick sections stained with Hematoxylin and Eosin were examined microscopically by a team of two Histopathologists and graded into grades I, II and III, according to 2016 WHO classification criteria. Another section of the original tumor was stained with progesterone receptor antibody using the conventional immunoperoxidase method. Stained slides were than examined by the same team of Histopathologists and declared positive (if nuclear staining was observed in more than 10% of tumor cells) or negative. Statistical analysis was done using SPSS version 21.Results: Out of a total of 100 cases of meningioma, there were 79 cases of benign/typical WHO grade I, 15 cases of atypical/ WHO grade II and 6 cases of anaplastic/ WHO grade III tumor. PR status was positive in 89.8 % (71/79) of grade I meningiomas and 46.6 % (7/15) of grade II/Atypical meningiomas. The 06 cases of Anaplastic/WHO grade III tumors were negative for PR. There was a higher prevalence of Progesterone receptors in female patients (89.8%; 53/59) as compared to male meningioma patients (60.9%; 25/41).Conclusion: We observed a decreased expression of progesterone receptor in higher grades of meningioma in this study. It is an effort to explore conservative treatment options for inoperable lesions, as anti-progesterone therapy may hold a promise as a new treatment option in the near future.

High-grade gliomas and molecular biology of neurosurgical oncology

2019 ◽  
pp. 89-106
Author(s):  
Stephen J Price ◽  
Harry Bulstrode ◽  
Richard Mair
Keyword(s):  
Molecular Markers ◽  
Who Classification ◽  
High Grade Glioma ◽  
High Grade ◽  
Optimal Management ◽  
Who Grade ◽  
Normal Human ◽  
Who Grade Iii ◽  
Grade Iii

The term high-grade glioma (HGG) encompasses a number of histological entities that are considered by the WHO Classification as WHO Grade III and IV tumours. They have traditionally been considered as having similar behaviour and had been treated in a similar manner but recent advances in our understanding of tumour biology have led to the identification of molecular markers that are now central to the classification of these tumours. Normal human cells develop into cancer cells through a stepwise accumulation of genomic and epigenomic alterations and this chapter considers the molecular markers of gliomas and explains their significance before going on to discuss the optimal management.

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