The first case of BRG (SMARCA4)/INI Deficient Tracheal Carcinoma: A Case Report and Review of the Literature

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S150-S151
Author(s):  
A C Omo-Ogboi ◽  
W Wang ◽  
B Zhao
Keyword(s):  
Case Report ◽  
High Grade ◽  
Primary Tumors ◽  
First Case ◽  
Tobacco Abuse ◽  
History Of ◽  
Classification Of Tumors ◽  
Poorly Differentiated

Abstract Introduction/Objective Primary tumors of the trachea are rare, they account for less than 0.1% of tumors in humans. In adults, 90% of primary tracheal tumors are malignant, with squamous cell carcinoma and adenoid cystic carcinoma accounting for two-thirds, with other forms occurring less frequently. The BRG (SMARCA4)/INI deficient tumor is a relatively new defined entity which is recently introduced in the WHO Classification of Tumors, 5th edition, 2021. The gene SMARCA4 is located at 19p13. Loss of SMARCA4 has been reported in several aggressive tumors with high- grade undifferentiated rhabdoid morphology but has not been reported in the trachea. Hence, we report the first case of BRG (SMARCA4)/ INI deficient tracheal carcinoma. Methods/Case Report We present a 60-year-old male with a history of tobacco abuse, shortness of breath, and a tracheal mass on chest imaging. Bronchoscopy was performed and showed a fleshy friable lesion at the anterior trachea with evidence of blood dripping into the distal airways. Results (if a Case Study enter NA) Microscopic examination showed a high grade, poorly differentiated carcinoma with tumor necrosis, high mitotic counts, and marked nuclear pleomorphism. Immunohistochemical stains were performed. The tumor cells were strongly and diffusely positive for CK-7 and weakly positive for synaptophysin, negative for pan-cytokeratin, TTF-1, CK-20, p40, CK5/6, and chromogranin. Then BRG (SMARCA4) and INI 1 (BAR47) were performed and showed negative staining on BRG expression, while INI 1 is intact (nuclear expression). These features are consistent with BRG (SMARCA4)/ INI deficient carcinoma. Conclusion BRG (SMARCA4)/ INI deficient carcinoma is a new entity in the trachea, which is very aggressive with a poor prognosis. Targeted therapy or clinical trials may be available as additional cases are diagnosed in the future.

scholarly journals Extra-axial dedifferentiated chordoma: A case report with brachyury immunohistochemical confirmation, literature review and pathologists’ perspective

2016 ◽  
Vol 2 (3) ◽  
pp. 161
Author(s):  
Evita Bonita Henderson-Jackson ◽  
Jaime Caracciolo ◽  
Douglas Letson ◽  
Marilyn Bui
Keyword(s):  
Radiation Therapy ◽  
Case Report ◽  
Relevant Literature ◽  
Exceptional Case ◽  
High Grade ◽  
Malignant Bone Tumor ◽  
Diagnostic Challenge ◽  
Primary Tumors ◽  
Axial Location ◽  
First Case

<p>Dedifferentiated chordoma is a rare and aggressive malignant bone tumor. It is known as a variant of conventional chordoma, which possesses additional high-grade sarcomatous elements. Dedifferentiated chordoma is commonly identified in axial location as recurrences, or following radiation therapy of primary tumors. Prognosis is poor and there is a potential risk for metastasis. There have been only a few reports of primary dedifferentiated chordoma. Owing to its rarity, especially when it is in an unusual extra-axial location, primary dedifferentiated chordoma presents a diagnostic challenge. Brachyury, a recently described immunohistochemical marker specific for chordoma, has improved the diagnostic accuracy of chordoma and its variants in extra-axial sites. We herein report an exceptional case of extra-axial dedifferentiated chordoma confirmed by the expression of brachyury, the first case report of this kind. The review of relevant literature and discussion of practical diagnostic approach from sarcoma pathologists’ perspective are intended to provide an update of this topic. </p>

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

Scales and Units

2018 ◽  
Author(s):  
Kathryn M. de Luna
Keyword(s):  
Language Change ◽  
Historical Linguistics ◽  
Bantu Languages ◽  
The North ◽  
First Case ◽  
Linguistic Evidence ◽  
River Region ◽  
History Of ◽  
Alternative Approaches

This chapter uses two case studies to explore how historians study language movement and change through comparative historical linguistics. The first case study stands as a short chapter in the larger history of the expansion of Bantu languages across eastern, central, and southern Africa. It focuses on the expansion of proto-Kafue, ca. 950–1250, from a linguistic homeland in the middle Kafue River region to lands beyond the Lukanga swamps to the north and the Zambezi River to the south. This expansion was made possible by a dramatic reconfiguration of ties of kinship. The second case study explores linguistic evidence for ridicule along the Lozi-Botatwe frontier in the mid- to late 19th century. Significantly, the units and scales of language movement and change in precolonial periods rendered visible through comparative historical linguistics bring to our attention alternative approaches to language change and movement in contemporary Africa.

scholarly journals Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology

2021 ◽  
Vol 22 (14) ◽  
pp. 7292
Author(s):  
Luca Marsili ◽  
Jennifer Sharma ◽  
Alberto J. Espay ◽  
Alice Migazzi ◽  
Elhusseini Abdelghany ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia Type ◽  
Niemann Pick Disease ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
History Of ◽  
Ataxia Syndrome ◽  
Niemann Pick

The gold standard for classification of neurodegenerative diseases is postmortem histopathology; however, the diagnostic odyssey of this case challenges such a clinicopathologic model. We evaluated a 60-year-old woman with a 7-year history of a progressive dystonia–ataxia syndrome with supranuclear gaze palsy, suspected to represent Niemann–Pick disease Type C. Postmortem evaluation unexpectedly demonstrated neurodegeneration with 4-repeat tau deposition in a distribution diagnostic of progressive supranuclear palsy (PSP). Whole-exome sequencing revealed a new heterozygous variant in TGM6, associated with spinocerebellar ataxia type 35 (SCA35). This novel TGM6 variant reduced transglutaminase activity in vitro, suggesting it was pathogenic. This case could be interpreted as expanding: (1) the PSP phenotype to include a spinocerebellar variant; (2) SCA35 as a tau proteinopathy; or (3) TGM6 as a novel genetic variant underlying a SCA35 phenotype with PSP pathology. None of these interpretations seem adequate. We instead hypothesize that impairment in the crosslinking of tau by the TGM6-encoded transglutaminase enzyme may compromise tau functionally and structurally, leading to its aggregation in a pattern currently classified as PSP. The lessons from this case study encourage a reassessment of our clinicopathology-based nosology.

scholarly journals Rhino-orbital COVID-19 associated mucormycosis- A case report

2021 ◽  
Vol 7 (4) ◽  
pp. 304-307
Author(s):  
Shanmuga Vadivoo Natarajan ◽  
B Usha
Keyword(s):  
Diabetes Mellitus ◽  
Infectious Disease ◽  
Case Report ◽  
Tertiary Care ◽  
Notifiable Disease ◽  
Health Ministry ◽  
First Case ◽  
Uncontrolled Diabetes ◽  
History Of ◽  
Second Wave

COVID-19 Associated Mucormycosis (CAM) is an emerging infectious disease that has caused increased mortality & morbidity in India during this second wave of the pandemic. The country has reported more than 30,000 cases and over 2,000 deaths by Mucormycosis so far, according to sources from Union Health Ministry. CAM is now a notifiable disease. At our Tertiary care teaching hospital, which caters for COVID 19 management, we are reporting the first case of Rhino orbital CAM, which was caused by Rhizopus spp. Our patient had a history of contact with a suspected COVID 19 patient and was recently diagnosed with uncontrolled diabetes mellitus. A direct KOH microscopic examination of purulent material aspirated from the sinonasal polyp of the patient revealed fungal elements, and Rhizopus spp was isolated. Due to a shortage of Amphotericin B, the patient was referred to a government higher speciality centre for further management. The patient was followed up & was noted that he was treated with antifungal and discharged following recovery.

Opera Inside and Out

2021 ◽  
pp. 227-268
Author(s):  
Katharine Ellis
Keyword(s):  
New Music ◽  
Musical Identity ◽  
Paris Opera ◽  
First Case ◽  
History Of

In three main sections, the discussion takes the reader from standard municipal opera in town theaters to the new phenomenon of open-air opera that started fitfully in the late 1860s but which became fashionable and important for decentralist and regionalist reasons from around 1900 onward. In the first case study, Wagner’s Lohengrin is detoxified in 1891 via seven municipal French stages, in advance of its successful appearance at the Paris Opéra. This provincial coup nevertheless indicates the stranglehold of French repertorial centralization, since it was possible only because Wagner was already embarrassingly famous and the violent history of his reception in Paris had paralyzed the capital’s ability to function as normal. Lohengrin was acclaimed in Lille as “local” but contained no audible couleur locale. It was through such “marked” music that opera acted as a vector for the “picturesque” presentation of the French provinces. Changing critical and audience attitudes to couleur locale from the 1830s onward prepared the conditions necessary for the development of regionalist operatic commentary, especially in Brittany and Provence. Identity, whether local and/or national, could also be enacted by audiences attending festival and commemorative performances of opera and stage spectacle in open-air venues. Catalyzed by performances at Orange, a tradition of open-air opera presented a distillation of meridional musical identity from around 1900 in ancient classical venues and their modern equivalents, while the new music it spawned remained stubbornly difficult to transplant to Paris.

Tumors of the Central Nervous System

2013 ◽  
pp. 20-58
Author(s):  
Keith L. Ligon ◽  
Karima Mokhtari ◽  
Thomas W. Smith
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Biology ◽  
Tumor Type ◽  
Primary Tumors ◽  
System P ◽  
Precise Diagnosis ◽  
The Central Nervous System ◽  
Classification Of Tumors

This chapter presents the most up-to-date classification of tumors of the nervous system, based on the histological appearance of the neoplasm and also on information derived from cytogenetics and molecular biology, now recognized worldwide as increasingly important for more precise diagnosis, prognosis, and therapeutic guidance. The chapter provides a detailed morphologic description of each major tumor type, with numerous illustrations of macroscopic and microscopic lesions. First we consider primary tumors of the nervous system, including those derived from neuroepithelial tissue (astrocytic, oligodendroglial, ependymal, neuronal, and glioneuronal), pineal tissue, peripheral nerve sheath, and meninges. Next lymphomas, hematopoietic neoplasms, and secondary (metastatic) neoplasms are described.

scholarly journals Metastatic Pancreatic Cancer with BRAF and P53 Mutations: Case Report of Therapeutic Response to Doublet Targeted Therapy

2020 ◽  
Vol 13 (3) ◽  
pp. 1239-1243
Author(s):  
Shenthol Sasankan ◽  
Lorraine Rebuck ◽  
Gloria Darrah ◽  
Moises Harari Turquie ◽  
Ian Rabinowitz
Keyword(s):  
Pancreatic Cancer ◽  
Case Report ◽  
Targeted Therapy ◽  
Therapeutic Response ◽  
Case Reports ◽  
Clinical History ◽  
P53 Mutation ◽  
Metastatic Pancreatic Cancer ◽  
First Case ◽  
History Of

We report on the clinical history of a 49-year-old female with metastatic pancreatic cancer. She was initially treated with standard chemotherapy as per current guidelines. She was found to have both a BRAF and P53 mutation, and received dabrafenib and trametinib with deep responses, both radiographically and biochemically (CA19-9). Her response has been more clinically relevant than responses in previous case reports of patients with BRAF-positive pancreatic cancer treated with targeted therapy. To the best of our knowledge, this is the first case report showing a dramatic therapeutic response to combination therapy with dabrafenib and trametinib in metastatic pancreatic cancer.

scholarly journals Primary Adenosquamous Cell Carcinoma of the Ileum in a Dog

2020 ◽  
Vol 7 (4) ◽  
pp. 155
Author(s):  
Masashi Yuki ◽  
Roka Shimada ◽  
Tetsuo Omachi
Keyword(s):  
Small Intestine ◽  
Case Report ◽  
Cell Carcinoma ◽  
Surgical Resection ◽  
Clinical Course ◽  
Mass Lesion ◽  
Abdominal Radiography ◽  
First Case ◽  
History Of

A 9-year-old male, castrated Chihuahua was examined because of a 7-day history of intermittent vomiting. A mass in the small intestine was identified on abdominal radiography and ultrasonography. Laparotomy revealed a mass lesion originating in the ileum, and surgical resection was performed. The mass was histologically diagnosed as adenosquamous cell carcinoma. Chemotherapy with carboplatin was initiated, but the dog was suspected to have experienced recurrence 13 months after surgery and died 3 months later. To our knowledge, this is the first case report to describe the clinical course of adenosquamous cell carcinoma in the small intestine of a dog.

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