scholarly journals Multiple Whole Chromosomal Gains Define Angiomatous Meningiomas and Are Absent From the Tumor Vasculature

2020 ◽  
Vol 79 (6) ◽  
pp. 618-625
Author(s):  
Jared T Ahrendsen ◽  
Nancy Hsu ◽  
Zena Wolf ◽  
Christine Bryke ◽  
Hemant Varma

Abstract Angiomatous meningioma is a variant with prominent vascularity that can mimic other highly vascularized tumors and present diagnostic challenges. Unlike most meningioma variants, where NF2 gene loss on chromosome 22 is the most common genetic abnormality, angiomatous meningiomas are unique in having multiple whole chromosome gains (polysomies). We analyzed 38 meningiomas, 9 angiomatous (including 2 atypical and 1 anaplastic), and 29 nonangiomatous meningiomas, using array comparative genomic hybridization (aCGH). Angiomatous meningiomas showed multiple chromosomal alterations including polysomies and copy neutral loss of heterozygosity in comparison to nonangiomatous variants. The most frequent gains were of chromosomes 5 and 20 (100% and 89% of cases, respectively); none showed chromosome 22 loss. Furthermore, using fluorescence in situ hybridization we show that the vasculature lacked chromosomal polysomy. While generally benign, we present 2 grade II and the first cytogenetically confirmed grade III angiomatous meningioma, demonstrating their potentially aggressive behavior. Thus, multiple polysomies define angiomatous meningioma and aCGH can distinguish this variant from nonangiomatous meningiomas and other histological mimics in diagnostically challenging cases. Furthermore, the prominent vasculature is not neoplastic and likely induced by angiogenic factors. Together, these findings suggest a distinct tumorigenic pathway in angiomatous meningiomas.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e21025-e21025
Author(s):  
Santiago Rafael Bella ◽  
Jose Roberto Llugdar ◽  
Alejo Lingua ◽  
Ricardo Alejandro Theaux ◽  
Francisco Papalini ◽  
...  

e21025 Background: In OD and OA, the 1p and 19q deletion has prognostic value in survival. It is also a predictive factor for response to chemotherapy. Fluorescence in situ hybridization (FISH) is the standard method for its evaluation. CISH could be an alternative that has already been validated in other neoplasias. In OD and OA, this combined deletion is present in about 50% of patients when analyzed with FISH. Methods: Patients resected at Clinica Reina Fabiola from january 2006 to january 2010 and diagnosed of OD and OA were propectivelly included. Paraffin-embebed tumor tissue was analyzed for 1p19q deletions by CISH. The results were correlated to the histology (OD and OA) and grade (II and III) of the tumors. Results: The demographic features of the patients from the present study coincide with literature. The 1p and 19q deletion was found in 3 of the 24 patients analyzed (13%). The combined deletion was only found in those with grade II OD. No combined deletion was found in patients diagnosed of grade III OD and grade II and III OA. In the subgroup of patients with grade II OD, the combined deletion was observed in 3 of 11 patients (27%). The 3 patients in which the deletion in both chromosomes was observed, received treatment with chemotherapy and radiotherapy, all of them with complete response. 5 years DFS was 90%-median follow up 36,8 (CI: 30,5-42,98) Conclusions: The detection of the combined deletion with CISH technique was inferior (13%) than the literature. We cannot demonstrate that CISH is a reliable method for the detection of the 1p and 19q deletion. The possible reasons of this difference could be attributed to the number of patients of the study, to deviations in the procedures of the test or to the fact that the CISH method is not coincident with FISH. This prospectivelly monoinstitutional results are also different to our previous report, and may be due to different pathological evaluation.


2013 ◽  
Author(s):  
Ιουλία Χριστοδουλίδου

Ο σκοπός της μελέτης είναι ο προσδιορισμός ιδιαίτερων χαρακτηριστικών στην κατανομή των (V) DΜSA και ΜIBI ραδιοφαρμάκων (ρ/φ), στον in situ πορογενή καρκίνο (DCIS) του μαστού και η συσχέτιση με την ύπαρξη ή όχι μικροαποτιτανώσεων καθώς και άλλων ιστολογικών και ανοσοϊστοχημικών παραμέτρων. Υλικό και Μέθοδος: 102 ασθενείς προσήλθαν στο νοσοκομείο ΑΛΕΞΑΝΔΡΑ για τον έλεγχο ύποπτων ψηλαφητικών ή/και μαστογραφικών ευρημάτων. Οι ασθενείς αυτές υποβλήθηκαν σε (V) DMSA ή/και MIBI σπινθηρομαστογραφία (SM), σε διαφορετικές συνεδρίες. 45 από αυτές έλαβαν και τα δύο ραδιοφάρμακα. Αποτελέσματα: Σε 46 ασθενείς επιβεβαιώθηκε ιστολογικά ο καρκίνος του μαστού. DCIS ανευρέθηκε σε 18 ασθενείς, ενώ lobular carcinoma in situ (LCIS), σε 2 ασθενείς. Σε 14/18 DCIS συνυπήρχε διηθητικός πορογενής καρκίνος (ILC), ενώ 2/2 LCIS συνδυάζονταν με διηθητικό λοβιδιακό καρκίνο (ILC). Το (V) DMSA ανίχνευσε 39/44 διηθητικές βλάβες, ενώ με το MIBI διαγνώστηκαν 29/33. Παρατηρήθηκε διάχυτη, μη σαφώς αφοριζόμενη καθήλωση του (V) DMSA, που συχνά περιέβαλε την περιοχή του IDC/ILC, σε 16/17 DCIS και σε 2/2 LCIS. Ανάλογη πρόσληψη επέδειξε και το MIBI σε 6/13DCIS-LCIS. Συμπεράσματα: Με βάση τα ευρήματα της SM, συγκριτικά με τις καλοήθειες, ο καρκίνος φαίνεται να διατηρεί υψηλούς δείκτες πρόσληψης (uptake ratio), του ρ/φ, τόσο στις πρώιμες όσο και στις καθυστερημένες λήψεις. Στις κακοήθειες ο βαθμός πρόσληψης (Τumor/Βackground), σχετίζεται με τον ιστολογικό τύπο. Ο δείκτης κατακράτησης (Retention Index), αντικατοπτρίζει το στάδιο της κακοήθειας και μπορεί να διευκολύνει στη διάκριση μεταξύ grade II και grade III καρκινωμάτων. Ο δείκτης πρόσληψης (Τ/Β ratio), παρέχει τη δυνατότητα διάκρισης μεταξύ πορογενούς και λοβιδιακού καρκίνου του μαστού.


Author(s):  
А.В. Бойко ◽  
Н.Д. Олтаржевская ◽  
В.И. Швец ◽  
Л.В. Демидова ◽  
Е.А. Дунаева ◽  
...  

Цель исследования. Разработка методов сопроводительной терапии для защиты нормальных органов и тканей, входящих в зону облучения. Методы. В исследование включено 112 больных раком шейки и тела матки после комбинированного или самостоятельного лучевого лечения с 2012 по 2016 гг. У 71 пациентки основной группы в качестве терапии сопровождения применяли гидрогель с деринатом и у 41 больной группы контроля - традиционные методы профилактики (масло оливковое, подсолнечное, метилурациловая мазь). Для профилактики эпителиита слизистой влагалища и шейки матки в основной группе использовали гидрогель в виде аппликаций с первого дня облучения. Для профилактики лучевого ректита гидрогель вводили в прямую кишку 1 раз в день с первого дня облучения. Инстилляции гидрогеля в мочевой пузырь начинали только при развитии первых признаков клинической картины цистита. Пациенткам контрольной группы для профилактики лучевых реакций проводились масляные, мазевые аппликации во влагалище, масляные микроклизмы в прямую кишку с первого дня облучения. Лечение лучевого цистита проводили с помощью растительных диуретиков, уросептиков. Результаты. Применение гидрогеля с деринатом позволило провести курс лучевой терапии без перерыва у 84,5% (60/71) больных, в контрольной группе - лишь у 48,8% (20/41). Лучевые циститы возникали в 2,5 раза реже (25,3% ± 3,3 против 63,4% ± 2,7, р<0,01). Анализ степени выраженности лучевого цистита по RTOG в двух группах показал, что у 75% больных основной группы наблюдалась I степень, у 25% - II степень, III и IV степени не отмечено, тогда как в контрольной группе лучевой цистит I степени развился у 44% пациенток, II - 40% и III - 16% больных. Применение гидрогеля снизило частоту лучевых ректитов в 2 раза (26,7% ± 3,3 против 53,7% ± 3,2 р<0,1).При использовании ежедневных аппликаций гидрогеля с деринатом со стороны слизистой оболочки влагалища и шейки матки преобладали эпителииты I степени (53,5%), II степень наблюдалась у 29,5% и III степень лучевой реакции - лишь в 16,9% случаев, IV степень реакции не отмечена. В контрольной группе эти показатели составили 26,8%, 24,3%, 31,7% и 17,2% соответственно. Разработаны цитологические критерии оценки течения лучевых реакций слизистой влагалища. Выделены три степени изменения цитограммы, которые коррелировали с клинической картиной. В основной группе лучевые изменения I степени зафиксированы в 4,5 раза чаще (52 ± 9,9% против 11,5 ± 6,3%, р<0,002), а III степень представлена в 3,8 раза реже, чем в контрольной группе (12 ± 6,5% против 46,1 ± 9,8%, р<0,003). Заключение. Применение гидрогелевого материала с деринатом в качестве препарата сопроводительной терапии во время курса облучения позволяет уменьшить частоту и степень выраженности лучевых повреждений со стороны слизистой влагалища, мочевого пузыря и прямой кишки, провести курс лучевой терапии без перерыва и улучшить качество жизни пациенток. Objective. Development of methods for accompanying therapy to protect normal organs and tissues in the irradiation zone. Method. The study included 112 patients with cervical and endometrial cancer after combined or independent radiotherapy from 2012 to 2016. In 71 female patients of the main group, Derinat with hydrogel was applied as a supportive therapy and in 41 patients of the control group, conventional prevention methods (olive oil, sunflower oil, methyluracyl ointment) were applied. For prevention of vaginal mucosal and cervical epitheliitis in the main group, hydrogel was used as applications from the first radiation day. For prevention of radiation proctitis, hydrogel was injected into the rectum once daily from the first radiation day. Hydrogel instillations into the bladder were started only with the first clinical signs of cystitis. For prevention of radiation reactions, vaginal oil and ointment and rectal oil micro-enema were administered to patients of the control group from the first day of irradiation. Radiation cystitis was treated with vegetable diuretics and uroseptic drugs. Results. Using the hydrogel with Derinat allowed to administer a course of radiotherapy without interruption in 84.5% (60/71) of patients and only in 48.8% (20/41) in the control group. Radiation cystitis occurred 60% less frequently (25.3% ± 3.3 versus 63.4% ± 2.7, p <0.01). Analysis of radiation cystitis severity in two groups (according to RTOG) showed that 75% of patients in the main group had grade I and 25% had grade II. Grade III and grade IV did not occur. At the same time, in the control group, grade I radiation cystitis developed in 44% of patients, grade II - in 40%, and grade III - in 16% of patients. The hydrogel treatment halved the frequency of radiation proctitis (26.7% ± 3.3 vs. 53.7% ± 3.2 p <0.1). With daily application of the hydrogel with Derinat, grade I epitheliitis (53.5%) predominated in vaginal and cervical mucosa, grade II was observed in 29.5%, and grade III radiation reaction - only in 16.9% of cases; grade IV reaction was not observed. In the control group, these proportions were 26.8%, 24.3%, 31.7%, and 17.2%, respectively. Cytological criteria were developed to evaluate the course of radiation reactions in the vaginal mucosa. Three degrees of change in the cytogram were identified, which correlated with clinical picture. In the main group, incidence of grade I radiation-induced changes was increased by more than 350% (52 ± 9.9% vs. 11.5 ± 6.3%, p <0.002), and incidence of grade III was decreased by more than 70% compared to the control group (12 ± 6.5% vs. 46.1 ± 9.8%, p <0.003). Conclusion. Using the hydrogel material with Derinat as an accompanying therapy during the course of irradiation allows to reduce frequency and severity of radiation injuries of the vaginal mucosa, bladder, and rectum, administer an uninterrupted course of radiotherapy, and improve the quality of life of patients.


2007 ◽  
Vol 107 (3) ◽  
pp. 600-609 ◽  
Author(s):  
Robert G. Whitmore ◽  
Jaroslaw Krejza ◽  
Gurpreet S. Kapoor ◽  
Jason Huse ◽  
John H. Woo ◽  
...  

Object Treatment of patients with oligodendrogliomas relies on histopathological grade and characteristic cytogenetic deletions of 1p and 19q, shown to predict radio- and chemosensitivity and prolonged survival. Perfusion weighted magnetic resonance (MR) imaging allows for noninvasive determination of relative tumor blood volume (rTBV) and has been used to predict the grade of astrocytic neoplasms. The aim of this study was to use perfusion weighted MR imaging to predict tumor grade and cytogenetic profile in oligodendroglial neoplasms. Methods Thirty patients with oligodendroglial neoplasms who underwent preoperative perfusion MR imaging were retrospectively identified. Tumors were classified by histopathological grade and stratified into two cytogenetic groups: 1p or 1p and 19q loss of heterozygosity (LOH) (Group 1), and 19q LOH only on intact alleles (Group 2). Tumor blood volume was calculated in relation to contralateral white matter. Multivariate logistic regression analysis was used to develop predictive models of cytogenetic profile and tumor grade. Results In World Health Organization Grade II neoplasms, the rTBV was significantly greater (p < 0.05) in Group 1 (mean 2.44, range 0.96–3.28; seven patients) compared with Group 2 (mean 1.69, range 1.27–2.08; seven patients). In Grade III neoplasms, the differences between Group 1 (mean 3.38, range 1.59–6.26; four patients) and Group 2 (mean 2.83, range 1.81–3.76; 12 patients) were not significant. The rTBV was significantly greater (p < 0.05) in Grade III neoplasms (mean 2.97, range 1.59–6.26; 16 patients) compared with Grade II neoplasms (mean 2.07, range 0.96–3.28; 14 patients). The models integrating rTBV with cytogenetic profile and grade showed prediction accuracies of 68 and 73%, respectively. Conclusions Oligodendroglial classification models derived from advanced imaging will improve the accuracy of tumor grading, provide prognostic information, and have potential to influence treatment decisions.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.


Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 734
Author(s):  
Ivona Djordjevic ◽  
Dragoljub Zivanovic ◽  
Ivana Budic ◽  
Ana Kostic ◽  
Danijela Djeric

Background and objectives: For the last three decades, non-operative management (NOM) has been the standard in the treatment of clinically stable patients with blunt spleen injury, with a success rate of up to 95%. However, there are no prospective issues in the literature dealing with the incidence and type of splenic complications after NOM. Materials and methods: This study analyzed 76 pediatric patients, up to the age of 18, with blunt splenic injury who were treated non-operatively. All patients were included in a posttraumatic follow-up protocol with ultrasound examinations 4 and 12 weeks after injury. Results: The mean age of the children was 9.58 ± 3.97 years (range 1.98 to 17.75 years), with no statistically significant difference between the genders. The severity of the injury was determined according to the American Association for Surgery of Trauma (AAST) classification: 7 patients had grade I injuries (89.21%), 21 patients had grade II injuries (27.63%), 33 patients had grade III injuries (43.42%), and 15 patients had grade IV injuries (19.73%). The majority of the injuries were so-called high-energy ones, which were recorded in 45 patients (59.21%). According to a previously created posttraumatic follow-up protocol, complications were detected in 16 patients (21.05%). Hematomas had the highest incidence and were detected in 11 patients (14.47%), while pseudocysts were detected in 3 (3.94%), and a splenic abscess and pseudoaneurysm were detected in 1 patient (1.31%), respectively. The complications were in a direct correlation with injury grade: seven occurred in patients with grade IV injuries (9.21%), five occurred in children with grade III injuries (6.57%), three occurred in patients with grade II injuries (3.94%), and one occurred in a patient with a grade I injury (1.31%). Conclusion: Based on the severity of the spleen injury, it is difficult to predict the further course of developing complications, but complications are more common in high-grade injuries. The implementation of a follow-up ultrasound protocol is mandatory in all patients with NOM of spleen injuries for the early detection of potentially dangerous and fatal complications.


2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii159-ii160
Author(s):  
Roberta Rudà ◽  
Riccardo Pascuzzo ◽  
Francesca Mo ◽  
Alessia Pellerino ◽  
Peter B Barker ◽  
...  

Abstract BACKGROUND There is lack of information on the role of excitatory and inhibitory neurotransmitters in the development of seizures in patients with lower grade gliomas. Increase of glutamate and downregulation of GABA have been suggested in preclinical models and human surgical samples to be associated with brain tumor-related epilepsy. MATERIAL AND METHODS We prospectively investigated with the use of magnetic resonance spectroscopy (MRS) the differences in the ratio of metabolites (glutamate/GABA, glutamate/creatine and GABA/creatine) in the peritumoral areas between patients with or without seizures in a series of lower grade gliomas. Tumors were classified according to WHO Classification of 2016 as follows:11 grade II IDH mutated and 1p/19q codeleted; 3 grade III IDH mutated and 1p/19q codeleted; 6 grade II IDH mutated and 1p/19q intact; 1 grade III IDH mutated and 1p/19q intact; 1 grade II IDH wild-type. Patients received surgery alone or followed by temozolomide chemotherapy according to the presence of risk factors. RESULTS At baseline evaluation, maximum glutamate/GABA values were significantly higher (p=0.023) in the peritumoral area of patients with seizures (1.008 ± 0.368) with respect to those without seizures (0.691 ± 0.170). No other metabolites ratio showed significant differences between the two groups. Similar results were obtained when analyzing the metabolites ratio in the examinations during the follow-up. In the cohort of patients with seizures (n.14) variations of metabolite ratios were not associated with tumor location, 1p/19q codeletion, use of AEDs, concomitant chemotherapy or seizure characteristics (type, duration, frequency). CONCLUSIONS The study is ongoing with the aim of analyzing further the correlations between ratio of metabolites and status of the tumor (stable vs progressive).


2016 ◽  
Vol 2016 ◽  
pp. 1-10
Author(s):  
Sarah Hackman ◽  
Richard D. Hammer ◽  
Lester Layfield

Malignant mesotheliomas are generally classified into epithelioid, sarcomatoid, desmoplastic, and biphasic types with rare reports of a small cell form. These small cell variants display some morphologic overlap with desmoplastic small round cell tumors (DSRCTs) which generally occur within the abdominal cavity of young males and are defined by a characteristic t(11;22)(p13;q12) translocation. However, there are rare reports of DSRCTs lacking this translocation. We present a 78-year-old man with a pleura-based biphasic neoplasm with features of both epithelioid mesothelioma and a small cell blastema-like neoplasm. The epithelioid portion showed IHC reactivity for pan cytokeratin, CK5/6, D2-40, and calretinin and the small cell portion marked with CD99, pan cytokeratin, WT1, FLI1, S100, CD200, MyoD1, and CD15. Fluorescence in situ hybridization testing for the t(11;22)(p13;q12) translocation disclosed loss of theEWSR1gene in 94% of tumor cell nuclei, but there was no evidence of the classic translocation. Array based-comparative genomic hybridization (a-CGH) confirmed the tumor had numerous chromosome copy number losses, including 11p15.5-p11.12 and 22q12.1-q13.33, with loss of theEWSR1andWT1gene regions. Herein, we report novel complex CGH findings in a biphasic tumor and review the molecular genetic alterations in both mesothelioma and DSRCTs.


2003 ◽  
Vol 112 (2) ◽  
pp. 113-119 ◽  
Author(s):  
Christoph Arens ◽  
Thomas Dreyer ◽  
Hiltrud Glanz ◽  
Karin Malzahn

In order to improve preoperative assessment of suspected precancerous and cancerous lesions of the larynx, we examined 83 patients by compact endoscopy (combination of autofluorescence and contact endoscopy) during microlaryngoscopy in a pilot study. The intraoperative findings were related to histopathologic examination. Cancerous laryngeal mucosa was illuminated during autofluorescence endoscopy by use of blue filtered light (D-light AF system) for optical demarcation of the lesion. After staining the mucosa with methylene blue (1%), we performed contact endoscopy. During autofluorescence examination of the endolaryngeal mucosa, the appearance of precancerous and cancerous lesions varied between opaque light areas and darker reddish areas. By contact endoscopy, it was possible to observe the cells, nuclei, and cytoplasm, as well as different degrees of abnormality. Histopathologic findings of 83 patients revealed laryngeal dysplasia (grade I in 29 patients, grade II in 15, and grade III or carcinoma in situ in 8) and laryngeal cancer (31 patients). In 73 cases (88%), the findings of compact endoscopy corresponded to those of histopathology. In 5 cases, epithelial lesions were overestimated because of inflammation and scarring, and 5 cases were underestimated because of hyperkeratotic thickening of the mucosa covering basal epithelial layers with focal dysplasia of grades II and III, carcinoma in situ, and microinvasive cancer. We conclude that compact endoscopy enables the laryngologist to assess laryngeal cancer and its preceding lesions more accurately during microlaryngoscopy.


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