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Arvelig leiomyomatose nyrecellekræft - undersøgelse af den genetiske årsag og dispositionen for nyrekræft

7. november 2026 opdateret af: National Cancer Institute (NCI)

Arvelig leiomyomatose nyrecellekræft (HLRCC): Identifikation af sygdomsgenet og karakterisering af dispositionen for nyrekræft

This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors. Leiomyomas are benign (non-cancerous) tumors arising from smooth muscle. HLRCC can cause various health problems. Some people develop red bumps on their skin that can be painful at times. Some women with HLRCC can develop leiomyomas of the uterus. In some families, people with HLRCC develop kidney tumors. This study will try to determine:

  • What gene changes (mutations) cause HLRCC
  • What kind of kidney tumors develop in HLRCC and how they grow
  • What the chance is that a person with HLRCC will develop a kidney tumor

People with known or suspected HLRCC (and their family members of any age) may be eligible for this study. This includes people in families in which one or more members has skin leiomyoma and kidney cancer; skin leiomyoma and uterine leiomyoma; multiple skin leiomyomas; kidney cancer and uterine leiomyomas, or kidney cancer consistent with HLRCC, including, but not limited to, collecting duct or papillary, type II. Candidates will be screened with a physical examination, family history, and, for affected family members, a review of medical records, including pathology slides and computed tomography (CT) or magnetic resonance imaging (MRI) scans.

Participants will undergo tests and procedures that may include the following:

  • Review of medical records, x-rays, and tissue slides

  • Physical examination and family history

  • Skin examination

  • Gynecological examination for women

  • Interviews with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor

  • Blood tests for:

    1. Genetic research to identify the gene responsible for HLRCC
    2. Evaluation of liver, kidney, heart, pancreas, and thyroid function
    3. Complete blood count and clotting profile
    4. Pregnancy test for pre-menopausal women
    5. PSA test for prostate cancer in men over age 40

  • CT or MRI scans (for participants 15 years of age and older only)

  • Skin biopsy (surgical removal of a small sample of skin tissue)

  • Cheek swab or mouth rinse to collect cells for genetic analysis

  • Medical photographs of lesions

  • Questionnaire

When the tests are completed, participants will discuss the results with a doctor and possibly a genetic nurse or genetic counselor. The genetic findings will not be revealed to participants because their meaning and implications may not yet be understood. Participants may be asked to return to NIH from every 3 months to every 3 years, depending on their condition, for follow-up examinations and tests.

Studieoversigt

Status

Rekruttering

Betingelser

Detaljeret beskrivelse

Background:

  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma.
  • HLRCC is caused by mutations in the Krebs cycle enzyme, fumarate hydratase localized on chromosome 1q42.3-q43.

Objectives:

  • Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome
  • Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC
  • Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations
  • Determine genotype/phenotype correlations
  • Determine if other genes cause HLRCC

Eligibility:

  • Individuals that meet one or more of the following criteria:

  • Suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as:

    • Cutaneous leiomyoma and kidney cancer
    • Cutaneous leiomyoma and uterine leiomyoma
    • Multiple cutaneous leiomyoma
    • Kidney cancer and uterine leiomyomata

or

-Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II

or

-Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC

Design:

  • These rare biological families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
  • Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.
  • We will determine if there is a relationship between mutation and disease phenotype.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

1350

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

  • Forenede Stater
    • Maryland
      • Bethesda, Maryland, Forenede Stater, 20892
        • Rekruttering
        • National Institutes of Health Clinical Center
        • Kontakt:
          • For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
          • Telefonnummer: 888-624-1937

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

2 år og ældre (Barn, Voksen, Ældre voksen)

Tager imod sunde frivillige

Ja

Køn, der er berettiget til at studere

Alle

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

An individual (including patient) from a family in which one or more family member have: cutaneous leiomyoma and kidney cancer, cutaneous leiomyoma and uterine leiomyoma, multiple cutaneous leiomyoma, kidney cancer and uterine leiomyomata, renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II.

Beskrivelse

  • INCLUSION CRITERIA:

  • Individuals that meet one or more of the following criteria:

    • Suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as:

      • Cutaneous leiomyoma and kidney cancer; or
      • Cutaneous leiomyoma and uterine leiomyoma; or
      • Multiple cutaneous leiomyoma; or
      • Kidney cancer and uterine leiomyomata

OR

--Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II

OR

--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC.

  • Participants must be >= 2 years of age.
  • All participants and parents/guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed.

EXCLUSION CRITERIA:

None

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

  • Observationsmodeller: CASE_ONLY
  • Tidsperspektiver: PROSPECTIVE

Kohorter og interventioner

Gruppe / kohorte
1 / Individuals

Individuals with known or suspected Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
2 / Family Members

Family members (related by blood) of individuals who have or are suspected of having Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
3 / Non-Biologic Family Members

Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort is for spouses previously enrolled on study.)

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.
Tidsramme: on-going

Molecular genetic differences between normal and tumorigenic fumarate hydratase (fumerase) mutations.
on-going
Determine the clinical manifestations of HLRCC
Tidsramme: on-going

Collection of blood, urine and/or benign and malignant tissue.
on-going
Determine if other genes cause HLRCC.
Tidsramme: on-going

Molecular genetic differences between normal and tumorigenic cells.
on-going
Determine genotype/phenotype correlations.
Tidsramme: on-going

Detection and expression analysis of gene(s).
on-going
Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC.
Tidsramme: on-going

Detection and expression analysis of gene(s).
on-going
Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome.
Tidsramme: on-going

Collection of blood, urine and/or benign and malignant tissue.
on-going

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

National Cancer Institute (NCI)

Efterforskere

  • Ledende efterforsker: W. Marston Linehan, M.D., National Cancer Institute (NCI)

Publikationer og nyttige links

Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.

Generelle publikationer

Hjælpsomme links

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

24. februar 2003

Datoer for studieregistrering

Først indsendt

17. december 2002

Først indsendt, der opfyldte QC-kriterier

17. december 2002

Først opslået (Anslået)

18. december 2002

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

10. november 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

7. november 2026

Sidst verificeret

2. november 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • 030066
  • 03-C-0066

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

JA

IPD-planbeskrivelse

All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.

IPD-delingstidsramme

Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.

IPD-delingsadgangskriterier

Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.@@@@@@Genomic data are made available via dbGaP through requests to the data custodians.

IPD-deling Understøttende informationstype

  • STUDY_PROTOCOL
  • SAP
  • ICF

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ingen

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

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