scholarly journals SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report

2021 ◽  
Vol 27 ◽  
Author(s):  
Igor Sirák ◽  
Jan Laco ◽  
Hana Vošmiková ◽  
Loren K. Mell ◽  
Fernanda G. Herrera ◽  
...  

Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.

2016 ◽  
Vol 5 (6) ◽  
pp. 540
Author(s):  
AjayKumar Pal ◽  
Sudheer Rathi ◽  
Krishna Murty ◽  
Nishant Misra

Author(s):  
Christopher Balfe ◽  
Cormac O'Connor ◽  
Gerard Giblin ◽  
Kevin Walsh ◽  
Ivan Casserly ◽  
...  

This case report describes a young female Caucasian patient with newly presenting severe mitral stenosis at the peak of the coronavirus pandemic in the Republic of Ireland. The initial presumptive diagnosis was of severe coronavirus illness. This case report highlights the importance of keeping an open mind to alternative diagnoses and examines some of the challenges in the diagnosis and management of a rare condition in the pandemic environment. This patient gained 10 kg of weight within 6 weeks of percutaneous balloon mitral valvuloplasty, highlighting the contribution of cardiac cachexia to her low body weight and demonstrating the exceptional benefit that this treatment can offer to patients.


2008 ◽  
Vol 2 ◽  
pp. CMO.S366
Author(s):  
Ali Adouani ◽  
Jed Bouguila ◽  
Yassine Jeblaoui ◽  
Mehdi Ben Aicha ◽  
Mouhamed Ali Abdelali ◽  
...  

Introduction The mandible is an infrequent localisation of primary osseous non-Hodgkin's lymphomas. Few cases of mandibular non-Hodgkin's lymphomas (NHL) have been reported. Case Report A rare condition of primary malignant non-Hodgkin's lymphoma of the mandible in 53-year-old man, was reported at the Department of Maxillofacial and Plastic Surgery in Charles Nicolle Hospital (Tunis, Tunisia). Histologic and Immunohistochemical (IHC) examination Confirmed a B-Cell lymphoma. Discussion The purpose of this report is to describe this rare case of NHL of the mandible, explore the diagnosis and workup, and discuss treatment strategies. In this localisation, neither the clinical features nor the radiologic appearances are often pathognomonic. Conclusion Particular care must be taken to consider lymphoma in the differential diagnosis because this uncommon lesion can pose significant diagnostic problems and is frequently misdiagnosed.


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