PATH-25. H3 K27M-MUTANT DIFFUSE NON-MIDLINE GLIOMA: REPORT OF A CASE WITH EXTENDED FOLLOW-UP

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi120-vi120
Author(s):  
Kliment Donev ◽  
Vanitha Sundararajan ◽  
Derek Johnson ◽  
Cristiane Ida

Abstract H3 K27M-mutant diffuse gliomas without midline involvement are extremely rare and their clinical behavior remains elusive due to limited reported follow-up data. We describe an H3 K27M-mutant diffuse non-midline glioma patient with extended follow-up. A 34-year-old woman presented with headache, memory loss, periods of changes in taste and smell, and confusion. Imaging studies revealed an 2.3 cm expansile T2/flair hyperintensity with patchy postcontrast enhancement centered in the left amygdala without associated restricted diffusion and no involvement of the midline structures. The tumor was debulked and consisted of a mitotically active infiltrating astrocytic glioma without tumor necrosis or microvascular proliferation, consistent with anaplastic astrocytoma. Targeted 187-gene neuro-oncology NGS testing detected an H3F3A K27M mutation along with a PTPN11 and a PPM1D mutation. FISH 1p/19q-codeletion testing was negative. MGMT promoter was unmethylated. The patient was treated with chemoradiation with temozolomide for 6 weeks followed by 12 cycles of temozolomide. Four years after initial resection, an area of increased post-contrast enhancement indicating tumor recurrence/progression was noted. Partial resection of the recurrent tumor revealed a mitotically active infiltrating astrocytic glioma with tumor necrosis consistent with glioblastoma. Molecular profiling of the recurrent tumor by the neuro-oncology NGS panel detected similar mutational profile (identical H3F3A K27M and PTPN11 mutation; different PPM1D mutation) with an additional SOS1 mutation. The patient completed 4 cycles of Lomustine and although clinically stable, imaging studies showed slight increase in residual tumor size concerning for tumor progression. Lomustine was discontinued, Bevacizumab therapy was initiated and patient was enrolled in clinical trial (NCT02525692). Despite tumor progression, this patient has had a relatively long disease course (5 years) suggesting that H3 K27M-mutant non-midline diffuse gliomas although molecularly similar, may follow a more favorable clinical course than their midline counterparts possibly due to the hemispheric location, which is more amenable for surgical resection.

2012 ◽  
Vol 25 (2) ◽  
pp. 163-171 ◽  
Author(s):  
H. Mori ◽  
A. Kunimatsu ◽  
O. Abe ◽  
H. Sasaki ◽  
H. Takao ◽  
...  

It has been suggested that a difference in signal intensity (SI) between the resection cavity and normal cerebrospinal fluid (CSF) on fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) in partially resected gliomas indicates subsequent or coincident tumor progression. We considered that this would hold true for resected meningiomas as well. Hence, we aimed to assess whether or not such a difference in the SI during the follow-up evaluation helps predict residual or recurrent tumor in resected meningiomas. We evaluated 63 patients with resected meningiomas. The SI within the resection cavity observed on FLAIR images was qualitatively and quantitatively assessed during follow-up. Qualitative analysis comprised visual comparison of the SI in the resection cavity with that of normal CSF by neuroradiologists. The SI in the resection cavity was quantitatively assessed by region of interest (ROI) analysis and normalized against the background noise and CSF SI. Normalized SI recorded during follow-up was compared with that recorded immediately after resection. Tumor progression was defined as a 20% or greater increase in the diameter of the longest residual or recurrent meningioma (Response Evaluation Criteria in Solid Tumors). The sensitivity and specificity of the elevated SI in the resection cavity for indicating residual or recurrent tumor were calculated. Qualitative analysis by FLAIR MRI showed that patients with remnant tumor following surgery had a prolonged SI increase in the resection cavity. Further, SI increase could not always be observed before recurrence, and both SI increase and regrowth remnant/recurrence could be detected in the same MRI examination. In resected meningiomas, leakage of tumor elements into the resection cavity, presumably tumor cells, manifests as an SI increase on FLAIR images and indicates residual or recurrent tumor. However, unlike the previous reports on partially resected gliomas, we concluded that the SI change does not always precede tumor progression or recurrence.


2006 ◽  
Vol 105 (1) ◽  
pp. 136-141 ◽  
Author(s):  
Takayuki Hara ◽  
Nobutaka Kawahara ◽  
Koji Tsuboi ◽  
Junji Shibahara ◽  
Tetsuo Ushiku ◽  
...  

✓ Skull base chordomas containing a sarcomatous component are extremely rare. Here the authors report two new cases in which a recurrent tumor with a sarcomatous component appeared after the patient had undergone charged-particle radiotherapy. Histological examinations performed in Case 1 revealed some retention of epithelial features in the sarcomatous component, whereas no such regions were observed in Case 2. Both patients had rapidly deteriorating clinical courses and died within 6 months after diagnosis of the recurrent tumor. The authors discuss the significance of the histological subtypes of these tumors for long-term prognosis and their pathogenetic mechanisms in relation to radiotherapy. Although these sarcomatous transformations are rare in conventional chordomas, a careful histological examination and thorough follow-up imaging studies are crucial when treating patients with such lesions.


2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Hui Wang ◽  
Ruili Li ◽  
Zhen Zhou ◽  
Hong Jiang ◽  
Zixu Yan ◽  
...  

Abstract Background Coronavirus disease 2019 (COVID-19) induces myocardial injury, either direct myocarditis or indirect injury due to systemic inflammatory response. Myocardial involvement has been proved to be one of the primary manifestations of COVID-19 infection, according to laboratory test, autopsy, and cardiovascular magnetic resonance (CMR). However, the middle-term outcome of cardiac involvement after the patients were discharged from the hospital is yet unknown. The present study aimed to evaluate mid-term cardiac sequelae in recovered COVID-19 patients by CMR Methods A total of 47 recovered COVID-19 patients were prospectively recruited and underwent CMR examination. The CMR protocol consisted of black blood fat-suppressed T2 weighted imaging, T2 star mapping, left ventricle (LV) cine imaging, pre- and post-contrast T1 mapping, and late gadolinium enhancement (LGE). LGE were assessed in mixed both recovered COVID-19 patients and healthy controls. The LV and right ventricle (RV) function and LV mass were assessed and compared with healthy controls. Results A total of 44 recovered COVID-19 patients and 31 healthy controls were studied. LGE was found in 13 (30%) of COVID-19 patients. All LGE lesions were located in the mid myocardium and/or sub-epicardium with a scattered distribution. Further analysis showed that LGE-positive patients had significantly decreased LV peak global circumferential strain (GCS), RV peak GCS, RV peak global longitudinal strain (GLS) as compared to non-LGE patients (p < 0.05), while no difference was found between the non-LGE patients and healthy controls. Conclusion Myocardium injury existed in 30% of COVID-19 patients. These patients have depressed LV GCS and peak RV strains at the 3-month follow-up. CMR can monitor the COVID-19-induced myocarditis progression, and CMR strain analysis is a sensitive tool to evaluate the recovery of LV and RV dysfunction.


Author(s):  
Irene Bargellini ◽  
Valentina Lorenzoni ◽  
Giulia Lorenzoni ◽  
Paola Scalise ◽  
Gianni Andreozzi ◽  
...  

Abstract Objectives To retrospectively compare long-term outcomes of first-line drug-eluting particle (DEB)- transarterial chemoembolization (TACE) and lipiodol-TACE, in patients with unresectable hepatocellular (HCC). Methods We retrospectively reviewed our database to identify adult patients with treatment-naïve unresectable HCC, who underwent TACE from 2006 to 2013. Patients were excluded in the absence of complete medical records relative to first TACE, 1-month follow-up, and/or sufficient follow-up data. Periprocedural complications, duration of hospitalization, 1-month tumor response by mRECIST, time to tumor progression (TTP) and target tumor progression (TTTP), and overall survival (OS) were evaluated. Results Out of an initial series of 656 patients, 329 patients were excluded for unavailability of sufficient baseline and/or follow-up data. The remaining 327 patients underwent either lipiodol-TACE (n = 160) or DEB-TACE (n = 167). Patients treated with lipiodol-TACE had a significantly higher tumor burden. By propensity score, patients were matched according to baseline differences (BCLC stage, uninodular or multinodular HCC, and unilobar or bilobar HCC), resulting in 101 patients in each treatment group. Lipiodol-TACE was associated with a significantly higher incidence of adverse events (p = 0.03), and longer hospitalization (mean, 2.5 days vs 1.9 days; p = 0.03), while tumor response, TTP, and OS were comparable. In patients achieving 1-month complete response (CR) of target tumor, TTTP was significantly (p = 0.009) longer after DEB-TACE compared to lipiodol-TACE (median, 835 vs 353 days), resulting in a lower number of re-treatments during the entire follow-up (0.75 vs 1.6, p = 0.01). Conclusion Compared to lipiodol-TACE, DEB-TACE offers higher tolerability, reduced hospitalization, and more durable target tumor response after CR. Key Points • Compared to lipiodol-TACE, DEB-TACE is better tolerated and has reduced side effects, which translates into shorter hospitalization. • When complete radiological response according to the mRECIST is obtained 1 month after the procedure, DEB-TACE offers a more durable local tumor control compared to lipiodol-TACE. • In these patients, the longer duration of response after DEB-TACE translates into a lower number of re-interventions.


2013 ◽  
Vol 3 ◽  
pp. 37 ◽  
Author(s):  
Berhan Genç ◽  
Aynur Solak ◽  
Aslan Mayda ◽  
Nazime Şen

Musculoskeletal system is involved in 1-5% of extrapulmonary cases of tuberculosis. Tuberculous tenosynovitis is a rare form of musculoskeletal tuberculosis. Tuberculosis of the tendon sheath in the hand has been seen in a few cases. Involvement of the tendons of the leg is less common. Diagnosis is not easy as there are no specific clinical symptoms or signs. A 33-year-old male presented with painful swelling in the distal right lower limb that caused restriction of movement. Imaging studies showed inflammation and infection of the extensor digitorium longus and tibialis anterior tendons. Histopathological studies showed a necrotizing granulomatous inflammation in the synovial tissue. A diagnosis of tuberculosis was made and medical treatment was initiated that proved successful. Patient remained infection-free at 26-month follow-up examination.


2000 ◽  
Vol 109 (3) ◽  
pp. 334-339 ◽  
Author(s):  
Joseph M. Serletti ◽  
John U. Coniglio ◽  
Salvatore J. Pacella ◽  
John D. Norante

Vertical midline mandibulotomy has provided a relatively simple and efficient means of obtaining access to intraoral tumors that are too large or too posterior to be removed transorally. Midline mandibulotomy has had the advantage of nerve and muscle preservation and places the osteotomy outside the typical field of radiotherapy, in contrast to lateral and paramedian osteotomies. Plate and screw fixation has been the usual means of osteosynthesis for these mandibulotomies; however, plate contouring over the symphyseal surface has been a time-consuming process. Unless the plate was contoured exactly, mandibular malalignment and malocclusion in dentulous patients has occurred. Use of parallel transverse lag screws has become a popular method of osteosynthesis for parasymphyseal fractures, and we have extended their use for mandibulotomy fixation. This paper reports our clinical experience with transverse lag screw fixation of midline mandibulotomies in 9 patients from 1994 to 1997. There were 7 men and 2 women with a mean age of 56 (range 35 to 71 years). The pathological diagnosis in all patients was squamous cell carcinoma; 8 cases were primary, and 1 patient presented with recurrent tumor. No tumors involved the mandibular periosteum. One patient had had previous radiotherapy, and 3 patients underwent postoperative radiotherapy. The mean follow-up has been 17 months (range 9 to 27). There was 1 minor complication and 1 major complication related to our technique. The major complication was a delayed nonunion of the mandibulotomy. This occurred because the 2 parallel screws were placed too close to one another, and this placement resulted in a delayed sagittal fracture of the anterior cortex and subsequent nonunion. Transverse lag screw fixation has not affected occlusion in our dentulous patients. Speech and diet were normal in the majority of our patients. Transverse lag screw fixation of the midline mandibulotomy has been a relatively safe, rapid, and reliable method for tumor access and postextirpation mandibular stabilization and has significant advantages over other current methods of mandibulotomy and fixation.


2009 ◽  
Vol 30 (11) ◽  
pp. 1459-1463 ◽  
Author(s):  
Tulin Cagatay ◽  
Munevver Aydın ◽  
Sule Sunmez ◽  
Penbe Cagatay ◽  
Ziya Gulbaran ◽  
...  

Stroke ◽  
2014 ◽  
Vol 45 (suppl_1) ◽  
Author(s):  
Katherine O Brag ◽  
Erica Jones ◽  
Dominique Monlezun ◽  
Alex George ◽  
Michael Halstead ◽  
...  

Introduction: Hematoma expansion (HE) is an established predictor of mortality and poor functional outcome after intracerebral hemorrhage (ICH). The computed tomography angiography (CTA) “spot” sign predicts HE and deterioration. The “dot” sign on delayed post-contrast CT (PCCT) has undetermined clinical significance but is thought to represent a slower rate of bleeding than the “spot” sign. We aimed to compare the sensitivity of a “dot” sign with the “spot” sign and establish the clinical significance of the “dot” sign. Methods: Patients with ICH presenting to our center July 2008-May 2013 were identified from our stroke registry. Only patients with baseline CT, CTA and PCCT and follow-up CT 6-36 hours later were included. Patients with clot evacuation between baseline and follow-up CT were excluded. HE was defined as 1) any ≥ 1cc increase and 2) significant ≥ 12.5cc increase or >33% increase in volume. Differences in cohort characteristics were assessed using appropriate statistical tests and sensitivity was calculated from 2x2 tables. Unadjusted logistic regression models were used to investigate the relation of “spot” and “dot” signs with HE and poor functional outcome (discharge mRS 4-6). Results: Of the 210 ICH patients included in the analyses (median age 61, 44.7% female, 66.2% black), 39 (18.5%) patients had a PCCT “dot” sign and 19 (9%) had a CTA “spot” sign. Significant HE occurred in 15% with “dot” sign and 8% with “spot” sign. The PCCT “dot” sign had a sensitivity of 0.52 in predicting significant HE and a sensitivity of 0.69 in predicting discharge mRS 4-6 (compared with 0.24 and 0.30 for “spot” sign, respectively). Patients with a “dot” sign, but without a “spot” sign, had significantly increased odds of any HE (OR 5.7, 95% CI 1.9-17.8, p=0.003), mRS 4-6 (OR 8.1, 95% CI 1.03-64.6, p=0.048), and death (OR 8.1, 95% CI 1.4-48.4, p=0.02), but not significant HE (OR 2.2, 95% CI 0.7-6.7, p=0.15). Conclusions: The PCCT “dot” sign was more sensitive in predicting hematoma expansion than the CTA “spot” sign and predicted hematoma expansion and poor functional outcome even in the absence of the “spot sign.” The utility of PCCT imaging in acute evaluation of ICH patients requires validation, but our study supports clinical relevance of the “dot” sign.


2021 ◽  
pp. 112067212110528
Author(s):  
Lan Zhou ◽  
Juanjuan Wang ◽  
Guihua Xu ◽  
Dingding Wang ◽  
Xiaoyi Wang ◽  
...  

Purpose To describe an atypical nodular episcleritis mimicking a solitary giant episcleral mass, which is not attributed to any systemic diseases and identified only after immunohistochemical examination. Case report A sixty-year-old Chinese woman with systemic hypertension presented with 6-month history of giant, solitary and redness epibulbar mass arising from the superior aspect of her left eye. The lesion gradually enlarged, even with 6-month history of irregular topical steroid eye drops treatment. Imaging studies and laboratory test revealed a 10 mm × 8 mm episcleral mass absence of any infection indicator and autoimmune antibody changes. The mass was completely removed before its extension through the deep scleral, histopathologic examination revealed a nodular episcleritis composed of various chronic inflammatory cells infiltration. Topical steroid eye drops treatment combined with oral steroidal anti-inflammatory drugs was then administrated regularly for 1 month, and no recurrence occurred after 1-year follow-up. Conclusion Nodular anterior episcleritis is characterized by underlying chronic inflammation of the anterior episclera and can be presented as asymptomatic episcleral mass. Besides a thorough investigation systemically, tissue biopsy is required for definite diagnosis.


Author(s):  
Fabio Salvatore Macaluso ◽  
Walter Fries ◽  
Anna Viola ◽  
Andrea Centritto ◽  
Maria Cappello ◽  
...  

Abstract Background No data on the recently introduced infliximab (IFX) biosimilar SB2 in inflammatory bowel disease (IBD) are available. Methods The Sicilian Prospective Observational Study of Patients With IBD Treated With Infliximab Biosimilar SB2 is a multicenter, observational, prospective study performed among the cohort of the Sicilian Network for Inflammatory Bowel Disease. All consecutive IBD patients starting the IFX biosimilar SB2 from its introduction in Sicily (March 2018) to September 2019 (18 months) were enrolled. Results Two hundred seventy-six patients (Crohn disease: 49.3%, ulcerative colitis: 50.7%) were included: 127 (46.0%) were naïve to IFX and naïve to anti-tumor necrosis factor medications (anti-TNFs), 65 (23.5%) were naïve to IFX and previously exposed to anti-TNFs, 17 (6.2%) were switched from an IFX originator to SB2, 43 (15.6%) were switched from the biosimilar CT-P13 to SB2, and 24 (8.7%) were multiply switched (from IFX originator to CT-P13 to SB2). The cumulative number of infusions of SB2 was 1798, and the total follow-up time was 182.7 patient-years. Sixty-seven serious adverse events occurred in 57 patients (20.7%; incidence rate: 36.7 per 100 patient-year), and 31 of these events caused the withdrawal of the drug. The effectiveness after 8 weeks of treatment was evaluated in patients naïve to IFX (n = 192): 110 patients (57.3%) had steroid-free remission, while 56 patients had no response (29.2%). At the end of follow-up, 72 patients (26.1%) interrupted the treatment, without significant differences in treatment persistency estimations between the five groups (log-rank P = 0.15). Conclusions The safety and effectiveness of SB2 seem to be overall similar to those reported for the IFX originator and CT-P13.


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