scholarly journals An IDH1-mutated primary gliosarcoma: case report

2017 ◽  
Vol 126 (2) ◽  
pp. 476-480 ◽  
Author(s):  
Jason K. Hsieh ◽  
Christopher S. Hong ◽  
Sunil Manjila ◽  
Mark L. Cohen ◽  
Simon Lo ◽  
...  

The authors present the case of a primary gliosarcoma with an isocitrate dehydrogenase-1 (IDH1) mutation. A 75-year-old man presented with a 3-day history of multiple focal seizures and was found on MRI to have a 2.2-cm left parietal enhancing mass lesion. Brain MRI for tremor performed 8 years prior to this presentation was normal. En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. Gliosarcoma is a rare variant of glioblastoma that arises most frequently as a primary tumor, and has equal or worse survival and an increased propensity for extracranial metastases compared with other Grade 4 gliomas. In contrast, isocitrate dehydrogenase-1 and -2 mutations are associated with low-grade gliomas with increased survival and less commonly with glioblastoma. To the authors' knowledge, there has been only 1 other published report of a primary gliosarcoma carrying an isocitrate dehydrogenase mutation. This rare genetic-histological combination highlights potential differences between glioblastoma and gliosarcoma and may warrant additional study.

2021 ◽  
Vol 09 (02) ◽  
pp. E258-E262
Author(s):  
Christian Suchy ◽  
Moritz Berger ◽  
Ingo Steinbrück ◽  
Tsuneo Oyama ◽  
Naohisa Yahagi ◽  
...  

Abstract Background and study aims We previously reported a case series of our first 182 colorectal endoscopic submucosal dissections (ESDs). In the initial series, 155 ESDs had been technically feasible, with 137 en bloc resections and 97 en bloc resections with free margins (R0). Here, we present long-term follow-up data, with particular emphasis on cases where either en bloc resection was not achieved or en bloc resection resulted in positive margins (R1). Patients and methods Between September 2012 and October 2015, we performed 182 consecutive ESD procedures in 178 patients (median size 41.0 ± 17.4 mm; localization rectum vs. proximal rectum 63 vs. 119). Data on follow-up were obtained from our endoscopy database and from referring physicians. Results Of the initial cohort, 11 patients underwent surgery; follow-up data were available for 141 of the remaining 171 cases (82,5 %) with a median follow-up of 2.43 years (range 0.15–6.53). Recurrent adenoma was observed in 8 patients (n = 2 after margin positive en bloc ESD; n = 6 after fragmented resection). Recurrence rates were lower after en bloc resection, irrespective of involved margins (1.8 vs. 18,2 %; P < 0.01). All recurrences were low-grade adenomas and could be managed endoscopically. Conclusions The rate of recurrence is low after en bloc ESD, in particular if a one-piece resection can be achieved. Recurrence after fragmented resection is comparable to published data on piecemeal mucosal resection.


2017 ◽  
Vol 26 (4) ◽  
pp. 501-506 ◽  
Author(s):  
Nick Thomson ◽  
Karel Pacak ◽  
Meic H. Schmidt ◽  
Cheryl A. Palmer ◽  
Karen L. Salzman ◽  
...  

Leptomeningeal dissemination of paraganglioma is rare, with only 2 prior cases in the literature. The authors present the case of a metastatic low-grade lumbar paraganglioma via leptomeningeal dissemination. This report emphasizes the utility of 3,4-dihydroxy-6-18F-fluoro-l-phenylalanine (18F-FDOPA) PET scanning for diagnosis, as well as the combination of radiation therapy and alkylating chemotherapeutic agents for the treatment of this rare phenomenon. The patient was a 61-year-old woman who presented with low-back pain and was found to have an isolated L-3 intrathecal tumor on MRI. Sixteen months after gross-total en bloc resection of the paraganglioma, the patient again became symptomatic with new neurological symptoms. MRI findings revealed enhancing leptomeningeal nodules throughout the spine. 18F-FDOPA PET/CT scanning was used to confirm the diagnosis of disseminated paraganglioma. Intrathecal thiotepa, radiation therapy, and systemic therapy with capecitabine and temozolomide have been used sequentially over a 2-year period, with each able to stabilize tumor growth for several months. The authors also summarize the 2 other reports of leptomeningeal dissemination of paragangliomas in the literature and compare the course and management of the 3 cases.


2009 ◽  
Vol 123 (12) ◽  
pp. 1364-1366 ◽  
Author(s):  
Y Oestreicher-Kedem ◽  
T G Dray ◽  
E J Damrose

AbstractIntroduction:This paper evaluates the feasibility of transoral, endoscopic resection of macroscopically localised, low grade, subglottic chondrosarcoma.Method:Retrospective case study including patients diagnosed with low grade, subglottic laryngeal chondrosarcoma. Tumours were resected endoscopically via direct laryngoscopy with microlaryngeal technique, under jet ventilation. The post-operative course, vocal fold function, airway patency and oncological results were evaluated.Results:Two male patients aged 49 and 60 years underwent endoscopic, translaryngeal, en bloc resection of low grade chondrosarcoma of the cricoid cartilage. Extubation was performed immediately after surgery. Neither patient required tracheostomy or developed subglottic stenosis. No tumour recurrence was noted after an average follow up of 10.5 months. Voice quality was stable and dyspnoea improved.Summary:Transoral, endoscopic resection of low grade, subglottic chondrosarcoma is a viable technique with good functional outcomes. Extensive resection of subglottic disease is possible, which may afford patients an alternative to total laryngectomy.


2007 ◽  
Vol 6 (2) ◽  
pp. 178-183 ◽  
Author(s):  
Mohamed Samy A. Elhammady ◽  
Glen R. Manzano ◽  
Nathan Lebwohl ◽  
Allan D. Levi

✓Leiomyosarcoma is a rare malignant smooth-muscle tumor that rarely metastasizes to bone. It is extremely uncommon for osseous metastasis to be the initial presentation of leiomyosarcoma or to be the initial manifestation of recurrence in patients with a history of leiomyosarcoma. The authors have treated four cases of metastatic leiomyosarcoma with the lesion initially presenting in the spine, and a fifth case of disseminated leiomyosarcoma that involved the spine. In their report, they highlight the cases of two of these patients and provide tabular data for the remaining three. The authors performed a comprehensive review of the literature on spinal leiomyosarcomas and retrospective chart reviews of five surgically treated patients in whom a spinal metastatic leiomyosarcoma was diagnosed. Their series consists of five women who ranged in age from 36 to 47 years (mean age 43.2 years). Four patients had known, or presumed, uterine primary lesions, whereas one harbored a retroperitoneal primary tumor. These lesions generally appear as lytic foci on imaging studies, but variable imaging characteristics were observed. All cases were managed aggressively: four patients underwent posterior/posterolateral decompression and fusion, and one underwent anterior–posterior en bloc resection and fusion. In all cases preoperative symptoms resolved. Two patients died 9 and 13 years after initial presentation. The remaining patients are alive and neurologically intact. Metastatic spinal leiomyosarcomas tend to symptomatically involve only one spinal level at the time of diagnosis and are known to recur locally. These lesions commonly affect women in early middle age, and long-term survival, even in those with systemic metastatic lesions, is better than that seen in individuals with more aggressive spinal metastases. Attempted gross-total resection with fusion, as opposed to minimal palliative decompression, is recommended.


2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Goro Shibukawa ◽  
Atsushi Irisawa ◽  
Ai Sato ◽  
Yoko Abe ◽  
Akane Yamabe ◽  
...  

Objectives. Recently, opportunities to encounter superficial nonampullary duodenal epithelial tumor (SNADET) have increased. EMR and ESD are performed to treat SNADET. However, the rate of perforation is higher than that of other gastrointestinal lesions, regardless of which method is used. Underwater EMR (UW-EMR) is immersion treatment of SNADET, which has low risk of perforation and can remove lesions safely and completely. In the present study, we retrospectively investigated patients in whom UW-EMR was performed to evaluate the feasibility and safety of UW-EMR for the treatment of SNADET. Methods. The primary endpoint was to evaluate the feasibility of UW-EMR for the treatment of SNADET, and secondary objective was to determine the operation’s safety. Results. There were 14 participants, with a total of 16 lesions, who underwent UW-EMR between August 2015 and December 2017. Histological heteromorphism revealed that seven patients had low-grade adenoma, seven had high-grade adenoma, and two had adenocarcinoma. En bloc resection was performed in 14 lesions. In two patients, nodular lesions were observed in the scar and biopsy confirmed recurrences. There were no serious adverse events including bleeding or perforation. Conclusions. UW-EMR may be a safe and effective treatment method for SNADET, if its therapeutic indication is adequately considered.


2021 ◽  
Vol 30 (8) ◽  
pp. 612-616
Author(s):  
Hsing-Fu Chen ◽  
Marios Papadakis ◽  
Seng-Feng Jeng

Objective: We describe a one-stage surgical technique for the management of recurrent cervical stitch sinus after thyroidectomy. Method: A retrospective, single-centre study of all patients who were operated on because of cervical neck sinus after thyroidectomy. We provide a detailed description of our surgical approach, based on guided sinus removal after prior tract staining with methylene blue and subsequent obliteration using local strap muscle flap. Results: A total of seven patients with a mean age of 46 years were included in the study. All patients had a past history of thyroidectomy because of goitre (n=5) or thyroid cancer (n=2) which had previously been unsuccessfully debrided two or three times. Surgical sinus removal was successful in all cases and no recurrence was observed during the follow-up time. Conclusions: We conclude that a comprehensive en bloc resection down to the suture granuloma is essential in order to provide surgical cure and prevent recurrence.


2021 ◽  
Author(s):  
Manabu Hoshi ◽  
Naoto Oebisu ◽  
Yoichi Ohta ◽  
Ayaka Tomimoto ◽  
Hiroaki Nakamura

Abstract Background: Clear cell chondrosarcoma (CCCS) is a rare, low-grade, malignant chondrogenic bone tumour. This tumour commonly occurs at the epiphysis of long bones, particularly in the proximal femur. Case presentation: This report describes a 58-year-old man with right hip pain since 5 months. Plain radiography, magnetic resonance imaging (MRI), and computed tomography (CT) revealed the characteristic appearance of chondroid mineralisation in the right femoral head, suggesting typical CCCS. Although a biopsy is the gold standard for definite diagnosis before treatment, wide resection with removal of the biopsy tract is thought to affect negatively affect surgical margin and postoperative hip function. En bloc resection without a biopsy and a hip hemiarthroplasty were performed instead. The pathological diagnosis was CCCS, and an adequate surgical margin was obtained. No local recurrence or distant metastases were found, and postoperative function was excellent at the final follow-up. Conclusion: The femoral head is a typical location of CCCS. Wide resection with adequate margins is the main treatment strategy for CCCS. When radiological features are typical, performing an en bloc resection without performing a biopsy is an acceptable treatment that may improve patient outcomes.


2019 ◽  
Vol 101 (8) ◽  
pp. e178-e183 ◽  
Author(s):  
M Haciyanli ◽  
S Karaisli ◽  
S Gucek Haciyanli ◽  
A Atasever ◽  
D Arikan Etit ◽  
...  

Parathyromatosis is a rare entity and usually appears as a consequence of the seeding on previous parathyroid surgery which was applied for the secondary hyperparathyroidism. A 63-year-old woman presented with a history of subtotal thyroidectomy 20 years ago and parathyroidectomy due to primary hyperparathyroidism (PHPT) four years ago. Imaging methods revealed multiple parathyromatosis foci on subcutaneous tissue of the neck. En-bloc resection was performed and pathological examination confirmed the diagnosis of parathyromatosis. After an uneventful 10 months, biochemical and radiological tests revealed recurrence on bilateral thyroid lodges. En-bloc resection was performed. The patient has remained well for 24 months after the second operation and has been followed-up with normal parathormone and serum calcium values. To the best of our knowledge, this report describes the twenty-first case of parathyromatosis in PHPT setting in the literature. It should be kept in mind that parathyromatosis may recur at different sites in the neck even in patients with PHPT.


2020 ◽  
Vol 19 (4) ◽  
pp. E412-E412
Author(s):  
Martin Julian Gagliardi ◽  
Alfredo Guiroy ◽  
Alfredo Sícoli ◽  
Nicolás Gonzalez Masanés ◽  
Alejandro Morales Ciancio

Abstract Sacral chordomas are infrequent tumors that arise from remnants of the notochord. They are most often found in the sacrum and skull-base.1,2 These lesions rarely metastasize and usually have an indolent and oligosymptomatic clinical course. Chordomas show low sensitivity to standard radiation therapy and chemotherapy. Operative resection with wide resection margins offers the best long-term prognosis, including longer survival and local control.1,3 However, achieving a complete resection with oncological margins may be difficult because of the anatomic complexity of the sacrococcygeal region.4 The main complications of sacral resection include infections, wound closure defects, and anorectal and urogenital dysfunction. The rate of these complications is significantly increased when the tumor involves the S2 level or above. We report the case of a 64-yr-old male who presented with progressive sacrococcygeal pain and a feeling of incomplete evacuation. A heterogeneous, osteolytic lesion was found at the sacrococcygeal region. Full body imaging tests were negative for other lesions. A computed tomography (CT) guided biopsy was made. We usually use the midline approach in case we have to include the needle path in the resection. The pathology confirmed a sacrococcygeal, low-grade chordoma. We decided to perform an en bloc resection. A posterior, partial sacrectomy was planned distal to the S4 level.


Sign in / Sign up

Export Citation Format

Share Document