التفاصيل البيبلوغرافية
| العنوان: |
Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma |
| المؤلفون: |
Bah, Ismaël, Fahiminiya, Somayyeh, Bégin, Louis R, Hamel, Nancy, D'Agostino, Maria D, Tanguay, Simon, Foulkes, William D |
| المساهمون: |
Canadian Institute of Health Research |
| المصدر: |
The Journal of Pathology: Clinical Research ; volume 4, issue 3, page 167-174 ; ISSN 2056-4538 2056-4538 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2018 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin macules, and absence of neurological anomalies. In the index case and three relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G > A, (p.Arg905Gln)], a rare TSC‐associated alteration which has previously been associated with a milder TSC phenotype. Whole‐exome sequencing of five RCCs from the index case and one RCC from his mother demonstrated either unique tumour‐specific deleterious second hits in TSC2 or significant allelic imbalance at the TSC2 gene locus (5/6 RCCs). This study confirms the key tumourigenic role of tumour‐specific TSC2 second hits in TSC‐associated RCCs and supports the notion that RCCLS may be strongly related to abnormalities of the mTOR pathway. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/cjp2.104 |
| DOI: |
10.1002/cjp2.104/fullpdf |
| الإتاحة: |
https://doi.org/10.1002/cjp2.104Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.747CEB03 |
| قاعدة البيانات: |
BASE |
