scholarly journals IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract

2019 ◽  
Vol 84 ◽  
pp. 183-191 ◽  
Author(s):  
Matthias Tallegas ◽  
Élodie Miquelestorena-Standley ◽  
Corinne Labit-Bouvier ◽  
Cécile Badoual ◽  
Arnaud Francois ◽  
...  
Keyword(s):  
Head And Neck ◽  
Skull Base ◽  
Idh Mutation ◽  
Facial Skeleton ◽  
Mutation Status

Association of Clinicopathological Features With Outcome in Chondrosarcomas of the Head and Neck

2020 ◽  
pp. 019459982095727
Author(s):  
Sofia Asioli ◽  
Poosit Ruengwanichayakun ◽  
Matteo Zoli ◽  
Federica Guaraldi ◽  
Giacomo Sollini ◽  
...  
Keyword(s):  
Head And Neck ◽  
Skull Base ◽  
Point Mutations ◽  
Molecular Data ◽  
Idh Mutation ◽  
Isocitrate Dehydrogenase 1 ◽  
Surgical Specimen ◽  
Mutation Status ◽  
Tertiary Referral Center ◽  
Affect Patient Outcome

Objective The aim of this study is to assess the association between clinical and radiological features as well as of isocitrate dehydrogenase 1 and 2 ( IDH 1,2) mutations with outcome in head and neck chondrosarcomas. Study Design Retrospective study. Setting Tertiary referral center. Methods Clinical, histological, and molecular data of patients with head and neck chondrosarcomas treated by surgery were collected. Results Forty-six patients were included. The mean age at diagnosis was 56 years (range, 17-78). The tumor originated from the skull base (52.2%), facial bones (28.2%), or laryngotracheal area (19.6%). At last follow-up (median 52.5 months), 38 patients were alive, 30 of which were disease free, whereas 8 had died, 4 of disease progression and 4 of other causes. Fourteen (30.4%) had local recurrence and 2 (4.3%) had lung metastasis. All cases were negative for cytokeratin AE1/AE3, brachyury, and IDH1 at immunohistochemistry, while Sanger sequencing identified IDH1/2 point mutations, typically IDH1 R132C, in 9 (37.5%) tumors arising from the skull base. Margin infiltration on the surgical specimen negatively affected the outcome, whereas no correlation was identified with IDH mutation status. Conclusions An adequate margin positively affects survival. IDH mutation status does not affect patient outcome.

Retrospective Review of 24 Cases of Head and Neck Cancer with Skull Base Invasion

Skull Base ◽  
2007 ◽  
Vol 17 (S 2) ◽  
Author(s):  
Federico Ampil ◽  
Cherie Nathan ◽  
Gloria Caldito ◽  
Anil Nanda ◽  
Timothy Lian
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Skull Base ◽  
Neck Cancer ◽  
Retrospective Review

Intraoperative assessment of isocitrate dehydrogenase mutation status in human gliomas using desorption electrospray ionization–mass spectrometry

2020 ◽  
Vol 132 (1) ◽  
pp. 180-187 ◽  
Author(s):  
Clint M. Alfaro ◽  
Valentina Pirro ◽  
Michael F. Keating ◽  
Eyas M. Hattab ◽  
R. Graham Cooks ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Electrospray Ionization ◽  
Isocitrate Dehydrogenase ◽  
Tumor Resection ◽  
Desorption Electrospray Ionization ◽  
Extent Of Resection ◽  
Ionization Mass ◽  
Idh Mutation ◽  
Mutation Status ◽  
Desi Ms

OBJECTIVEThe authors describe a rapid intraoperative ambient ionization mass spectrometry (MS) method for determining isocitrate dehydrogenase (IDH) mutation status from glioma tissue biopsies. This method offers new glioma management options and may impact extent of resection goals. Assessment of the IDH mutation is key for accurate glioma diagnosis, particularly for differentiating diffuse glioma from other neoplastic and reactive inflammatory conditions, a challenge for the standard intraoperative diagnostic consultation that relies solely on morphology.METHODSBanked glioma specimens (n = 37) were analyzed by desorption electrospray ionization–MS (DESI-MS) to develop a diagnostic method to detect the known altered oncometabolite in IDH-mutant gliomas, 2-hydroxyglutarate (2HG). The method was used intraoperatively to analyze tissue smears obtained from glioma patients undergoing resection and to rapidly diagnose IDH mutation status (< 5 minutes). Fifty-one tumor core biopsies from 25 patients (14 wild type [WT] and 11 mutant) were examined and data were analyzed using analysis of variance and receiver operating characteristic curve analysis.RESULTSThe optimized DESI-MS method discriminated between IDH-WT and IDH-mutant gliomas, with an average sensitivity and specificity of 100%. The average normalized DESI-MS 2HG signal was an order of magnitude higher in IDH-mutant glioma than in IDH-WT glioma. The DESI 2HG signal intensities correlated with independently measured 2HG concentrations (R2 = 0.98). In 1 case, an IDH1 R132H–mutant glioma was misdiagnosed as a demyelinating condition by frozen section histology during the intraoperative consultation, and no resection was performed pending the final pathology report. A second craniotomy and tumor resection was performed after the final pathology provided a diagnosis most consistent with an IDH-mutant glioblastoma. During the second craniotomy, high levels of 2HG in the tumor core biopsies were detected.CONCLUSIONSThis study demonstrates the capability to differentiate rapidly between IDH-mutant gliomas and IDH-WT conditions by DESI-MS during tumor resection. DESI-MS analysis of tissue smears is simple and can be easily integrated into the standard intraoperative pathology consultation. This approach may aid in solving differential diagnosis problems associated with low-grade gliomas and could influence intraoperative decisions regarding extent of resection, ultimately improving patient outcome. Research is ongoing to expand the patient cohort, systematically validate the DESI-MS method, and investigate the relationships between 2HG and tumor heterogeneity.

Skull base and head and neck radiology

1997 ◽  
Vol 24 (3) ◽  
pp. 171 ◽  
Author(s):  
Ugo Salvolini
Keyword(s):  
Head And Neck ◽  
Skull Base

Expression levels of miR-34-family microRNAs are associated with TP53 mutation status in head and neck squamous cell carcinoma

2018 ◽  
Vol 276 (2) ◽  
pp. 521-533 ◽  
Author(s):  
Chanatip Metheetrairut ◽  
Chanticha Chotigavanich ◽  
Kanchana Amornpichetkul ◽  
Phawin Keskool ◽  
Sunun Ongard ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Tp53 Mutation ◽  
Neck Squamous Cell Carcinoma ◽  
Mutation Status ◽  
Expression Levels

Atypical Form of Cervicofacial Actinomycosis Involving the Skull Base and Temporal Bone

2018 ◽  
Vol 128 (2) ◽  
pp. 152-156 ◽  
Author(s):  
Adam McCann ◽  
Sameer A. Alvi ◽  
Jessica Newman ◽  
Kiran Kakarala ◽  
Hinrich Staecker ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Skull Base ◽  
Temporal Bone ◽  
Soft Tissues ◽  
Trauma Surgery ◽  
Oral Antibiotic ◽  
Facial Skeleton ◽  
Atypical Form ◽  
Unsuccessful Treatment ◽  
The Right

Background: Cervicofacial actinomycosis is an uncommon indolent infection caused by Actinomyces spp that typically affects individuals with innate or adaptive immunodeficiencies. Soft tissues of the face and neck are most commonly involved. Actinomyces osteomyelitis is uncommon; involvement of the skull base and temporal bone is exceedingly rare. The authors present a unique case of refractory cervicofacial actinomycosis with development of skull base and temporal bone osteomyelitis in an otherwise healthy individual. Methods: Case report with literature review. Results: A 69-year-old man presented with a soft tissue infection, culture positive for Actinomyces, over the right maxilla. Previous unsuccessful treatment included local debridement and 6 weeks of intravenous ceftriaxone. He was subsequently treated with conservative debridement and a prolonged course of intravenous followed by oral antibiotic. However, he eventually required multiple procedures, including maxillectomy, pterygopalatine fossa debridement, and a radical mastoidectomy to clear his disease. Postoperatively he was gradually transitioned off intravenous antibiotics. Conclusions: Cervicofacial actinomycosis involves soft tissue surrounding the facial skeleton and oral cavity and is typically associated with a history of mucosal trauma, surgery, or immunodeficiency. The patient was appropriately treated but experienced disease progression and escalation of therapy. Although actinomycosis is typically not an aggressive bacterial infection, this case illustrates the need for prompt recognition of persistent disease and earlier surgical intervention in cases of recalcitrant cervicofacial actinomycosis. Chronic actinomycosis has the potential for significant morbidity.

scholarly journals Classification of Brain Tumor IDH Status using MRI and Deep Learning

2019 ◽  
Author(s):  
Sahil Nalawade ◽  
Gowtham Murugesan ◽  
Maryam Vejdani-Jahromi ◽  
Ryan A. Fisicaro ◽  
Chandan Ganesh Bangalore Yogananda ◽  
...  
Keyword(s):  
Deep Learning ◽  
Classification Accuracy ◽  
Test Accuracy ◽  
Low Grade ◽  
Idh Mutation ◽  
Validation Data ◽  
Mutation Status ◽  
Radiologic Imaging ◽  
Address Data

AbstractIsocitrate dehydrogenase (IDH) mutation status is an important marker in glioma diagnosis and therapy. We propose a novel automated pipeline for predicting IDH status noninvasively using deep learning and T2-weighted (T2w) MR images with minimal preprocessing (N4 bias correction and normalization to zero mean and unit variance). T2w MRI and genomic data were obtained from The Cancer Imaging Archive dataset (TCIA) for 260 subjects (120 High grade and 140 Low grade gliomas). A fully automated 2D densely connected model was trained to classify IDH mutation status on 208 subjects and tested on another held-out set of 52 subjects, using 5-fold cross validation. Data leakage was avoided by ensuring subject separation during the slice-wise randomization. Mean classification accuracy of 90.5% was achieved for each axial slice in predicting the three classes of no tumor, IDH mutated and IDH wild-type. Test accuracy of 83.8% was achieved in predicting IDH mutation status for individual subjects on the test dataset of 52 subjects. We demonstrate a deep learning method to predict IDH mutation status using T2w MRI alone. Radiologic imaging studies using deep learning methods must address data leakage (subject duplication) in the randomization process to avoid upward bias in the reported classification accuracy.

Experiences with the sternocleidomastoid muscle and myocutaneous flaps

1990 ◽  
Vol 104 (4) ◽  
pp. 315-321 ◽  
Author(s):  
Rammohan Tiwari
Keyword(s):  
Head And Neck ◽  
Skull Base ◽  
Temporal Bone ◽  
Sternocleidomastoid Muscle ◽  
Musculocutaneous Flap ◽  
Musculocutaneous Flaps ◽  
Myocutaneous Flaps

AbstractThe use of the sternocleidomastoid muscle and musculocutaneous flaps in the reconstruction of defects arising after surgery for cancer of the head and neck has been a subject of some discussion.Experience with these flaps over a ten year period from 1980 until 1989 is presented. Attention is drawn to the various types of flaps in vogue, their indications to date, benefits and drawbacks. A new reliable compound musculocutaneous flap developed by the author for use in defects of the skull base after total temporal bone excision is presented.

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