Family Léiomyomatose and cancer of the kidney

The family léiomyomatose and cancer of the kidney are a genetic disease touching several members of the same family and being characterized by the appearance of léiomyome (benign tumors of soft fabrics who develop starting from the smooth muscular cells) cutaneous, single or multiple, of léiomyome (fibrome) of the Utérus and/or of Cancer of the kidney. This pathology was described for the first time in 1854 by R.Virchow in Germany.

Private clinic

the cutaneous léiomyomes are Papule S or nodule S clear chestnuts located at the level of the trunk and the level of the hands and feet and sometimes of the face starting towards the 25 years age and increasing in the face and of number with the age. They are serious of a pea and can be painful.

the uterine fibromes are constant among women reached by this disease and are numerous and of big sizes. These fibromes can appear dice the 18 years age. In rare cases, a uterine Sarcome can develop.

the cancer of the kidney is renal cellular carcinome and appears in a usual way: hématurie, pains and palpable abdominal mass. It is generally very aggressive. This cancer reaches approximately 15% of the individuals. More than 50% of these cancers will be diagnosed before 44 years.

Etiology

It is a genetic disease whose transmission is most of the time autosomic dominant. The responsible gene is named HLRCC for Hereditary leiomyomas and renal concealment cancer and it is located in 1q42.3-43. It codes an enzyme mitochondriale, the fumarate hydratase which plays a part in all the cells of the organization. Among patients, the activity of this enzyme is very reduced in the blood cells, and almost non-existent in the tumoral cells.

Diagnosis

The diagnosis is done on the clinical signs, in particular the study under the microscope and the immunohistology of biopsy of the cutaneous leimyomes.

The proportioning of the cellular activity fumarate hydratase and the research of the change confirm the disease.

Frequency

This syndrome is rare but the data are insufficient to determine its exact frequency of it.

Treatment

The surgical excision of the unaesthetic or painful cutaneous léiomyomes can sometimes be necessary. The laser and electrocoagulation are ineffective in this indication.

The pains can be calmed by the nifedipine and the trinitrine.

A urologic and gynaecological regular monitoring is essential, in order to detect the appearance of possible cancers.

See too

Sources

Manop Pithukpakorn, Jorge R Toro, Hereditary Leiomyomatosis and Renal Concealment Cancer In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.

External bonds

Family leiomyomatis, complete article on orpha.net .
Léiomyomatose, family form, summary on orpha.net .

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