scholarly journals Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology

2021 ◽  
Author(s):  
Outi Uimari ◽  
Anne Ahtikoski ◽  
Kati Kämpjärvi ◽  
Ralf Butzow ◽  
Ilkka Y. Järvelä ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Clinical Characteristics ◽  
Cell Cancer ◽  
Uterine Leiomyomas ◽  
Typical Morphology ◽  
Hereditary Leiomyomatosis

scholarly journals Multi-omic analysis of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients

2019 ◽  
Vol 112 (3) ◽  
pp. e347-e348
Author(s):  
Thomas Conrads ◽  
Christopher Tarney ◽  
Nicholas Bateman ◽  
Anthony R. Soltis ◽  
Brian L. Hood ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Uterine Leiomyomas ◽  
Hereditary Leiomyomatosis

scholarly journals Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nicholas W. Bateman ◽  
Christopher M. Tarney ◽  
Tamara Abulez ◽  
Anthony R. Soltis ◽  
Ming Zhou ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Target Genes ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Thioredoxin Reductase ◽  
Antioxidant Response ◽  
Suppressor Gene ◽  
Uterine Leiomyomas ◽  
Hereditary Leiomyomatosis

AbstractPathogenic mutations in fumarate hydratase (FH) drive hereditary leiomyomatosis and renal cell cancer (HLRCC) and increase the risk of developing uterine leiomyomas (ULMs). An integrated proteogenomic analysis of ULMs from HLRCC (n = 16; FH-mutation confirmed) and non-syndromic (NS) patients (n = 12) identified a significantly higher protein:transcript correlation in HLRCC (R = 0.35) vs. NS ULMs (R = 0.242, MWU p = 0.0015). Co-altered proteins and transcripts (228) included antioxidant response element (ARE) target genes, such as thioredoxin reductase 1 (TXNRD1), and correlated with activation of NRF2-mediated oxidative stress response signaling in HLRCC ULMs. We confirm 185 transcripts previously described as altered between HLRCC and NS ULMs, 51 co-altered at the protein level and several elevated in HLRCC ULMs are involved in regulating cellular metabolism and glycolysis signaling. Furthermore, 367 S-(2-succino)cysteine peptides were identified in HLRCC ULMs, of which sixty were significantly elevated in HLRCC vs. NS ULMs (LogFC = 1.86, MWU p < 0.0001). These results confirm and define novel proteogenomic alterations in uterine leiomyoma tissues collected from HLRCC patients and underscore conserved molecular alterations correlating with inactivation of the FH tumor suppressor gene.

scholarly journals Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

2011 ◽  
Vol 11 (1) ◽  
pp. 123-129 ◽  
Author(s):  
Karin Y. van Spaendonck-Zwarts ◽  
Sadhanna Badeloe ◽  
Sjoukje F. Oosting ◽  
Sjoerd Hovenga ◽  
Harry J. F. Semmelink ◽  
...  
Keyword(s):  
Kidney Cancer ◽  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Hereditary Leiomyomatosis

scholarly journals Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

2017 ◽  
Vol 15 ◽  
pp. 31-34 ◽  
Author(s):  
Pietro Bortoletto ◽  
Jennifer L. Lindsey ◽  
Liping Yuan ◽  
Bradley J. Quade ◽  
Antonio R. Gargiulo ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Cutaneous Lesions ◽  
Hereditary Leiomyomatosis

Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings

2018 ◽  
Vol 25 (9) ◽  
pp. 832-835 ◽  
Author(s):  
Go Noguchi ◽  
Mitsuko Furuya ◽  
Yoichiro Okubo ◽  
Yoji Nagashima ◽  
Ikuma Kato ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Cutaneous Manifestations ◽  
Hereditary Leiomyomatosis
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