scholarly journals Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression

2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Ming Zhao ◽  
Qiu Rao ◽  
Cuiyun Wu ◽  
Zhongsheng Zhao ◽  
Xianglei He ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Rearrangement ◽  
Soft Part ◽  
Molecular Genetic ◽  
Antigen Expression ◽  
Molecular Genetic Analysis ◽  
Alveolar Soft Part Sarcoma ◽  
Diagnostic Utility ◽  
Unique Case

APC and β-catenin in alveolar soft part sarcoma (ASPS) - immunohistochemical and molecular genetic analysis

2000 ◽  
Vol 196 (5) ◽  
pp. 299-304 ◽  
Author(s):  
Cornelius Kuhnen ◽  
Peter Herter ◽  
Hella Monse ◽  
Sabine Kahmann ◽  
Thomas Muehlberger ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Soft Part ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Alveolar Soft Part Sarcoma

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

2021 ◽  
Vol 14 (6) ◽  
pp. e243415
Author(s):  
Phudit Jatavan ◽  
Theera Tongsong ◽  
Kuntharee Traisrisilp
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Clinical Findings ◽  
Serum Biomarkers ◽  
Provisional Diagnosis ◽  
Unique Case ◽  
Clinical Criteria ◽  
Placental Mesenchymal Dysplasia

We describe a unique case of Beckwith-Wiedemann syndrome (BWS). A 29-year-old woman with ultrasound and clinical findings, specific to BWS is described. Important insights gained from this study are as follows: (1) quad test may be very useful to increase awareness of BWS. This is the first report, which demonstrated that elevated inhibin-A is related to BWS. Unexplained elevation of serum biomarkers, especially all the four markers, should raise awareness of BWS. (2) Early provisional diagnosis in this case was based on the findings of omphalocele, placental mesenchymal dysplasia and abnormal quad test. (3) Follow-up scans are important for late-occurring supportive findings, such as macroglossia, ear abnormalities and visceromegaly. (4) BWS is strongly associated with preeclampsia, which tended to be more severe and of earlier-onset. (5) Molecular genetic analysis is helpful, but not always necessary in cases of fulfilment of clinical criteria like in this case.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene
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