TY  - CHAP
M1  - Book, Section
TI  - Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
A1  - Launonen, Virpi
A1  - Kiuru, Maija
A1  - Herva, Riitta
A1  - Aaltonen, Lauri A.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - The  typical  features  of  hereditary  leiomyomatosis  and  renal  cell  cancer  (HLRCC)  (MIM  605839)  [http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?605839]  are  benign  leiomyomas  of  the  skin  and  the  uterus  (fibroids,  myomas).  The  condition  is  also  referred  to  as  multiple  cutaneous  and  uterine  leiomyomatosis  (MCUL)  (MIM  150800).  [http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?150800]Predisposition  to  early-onset  renal  cell  carcinoma  and  uterine  leiomyosarcoma  is  present  in  a  subset  of  families.  Renal  cancer  is  typically  of  papillary  type  2  histology,  although  collecting  duct  carcinomas  have  also  been  detected.The  predisposing  gene  is  FH  (MIM  136850).  [http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?136850]  Germline  mutations  in  FH  have  been  found  in  85%  of  the  HLRCC  families.Homozygous  or  compound  heterozygous  mutations  of  FH  cause  a  recessive  disorder,  FH  deficiency  (MIM  606812).  [http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606812]  The  syndrome  is  characterized  by  neurologic  impairment,  growth  and  developmental  delay,  fumaric  aciduria,  and  absent  or  reduced  enzyme  activity  in  all  tissues.There  seem  not  to  be  clear-cut  genotype-phenotype  correlations  between  the  detected  mutations  and  their  clinical  outcomes.  Therefore,  predisposition  to  malignancy  may  be  due  to  currently  unknown  modifying  factors,  as  some  families  appear  to  have  high  risk  of  cancer  at  early  age,  and  others  little  or  no  risk.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - ommbid.mhmedical.com/content.aspx?aid=1181415500
ER  -