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Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk,
surveillance and treatment
#MMPMID25012257
Menko FH
; Maher ER
; Schmidt LS
; Middelton LA
; Aittomäki K
; Tomlinson I
; Richard S
; Linehan WM
Fam Cancer
2014[Dec]; 13
(4
): 637-44
PMID25012257
show ga
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant
condition in which susceptible individuals are at risk for the development of
cutaneous leiomyomas, early onset multiple uterine leiomyomas and an aggressive
form of type 2 papillary renal cell cancer. HLRCC is caused by germline mutations
in the fumarate hydratase (FH) gene which inactivate the enzyme and alters the
function of the tricarboxylic acid (Krebs) cycle. Issues surrounding surveillance
and treatment for HLRCC-associated renal cell cancer were considered as part of a
recent international symposium on HLRCC. The management protocol proposed in this
article is based on a literature review and a consensus meeting. The lifetime
renal cancer risk for FH mutation carriers is estimated to be 15 %. In view of
the potential for early onset of RCC in HLRCC, periodic renal imaging and, when
available, predictive testing for a FH mutation is recommended from 8 to 10 years
of age. However, the small risk of renal cell cancer in the 10-20 years age range
and the potential drawbacks of screening should be carefully discussed on an
individual basis. Surveillance preferably consists of annual abdominal MRI.
Treatment of renal tumours should be prompt and generally consist of wide-margin
surgical excision and consideration of retroperitoneal lymph node dissection. The
choice for systemic treatment in metastatic disease should, if possible, be part
of a clinical trial. Screening procedures in HLRCC families should preferably be
evaluated in large cohorts of families.
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