Guzy wilmsa
Etiologia i przyczyny

Guz Wilmsa (nephroblastoma) jest najczęstszym nowotworem nerki u dzieci, stanowiącym około 7% wszystkich nowotworów wieku dziecięcego, z roczną zachorowalnością około 500 przypadków w USA. Patogeneza guza wiąże się z mutacjami genów supresorowych, w tym WT1 (11p13), CTNNB1, WTX (X chromosom), TP53 i MYNC, a także utratą heterozygotyczności na chromosomach 1p, 1q, 11p15 i 16q, co koreluje z gorszym rokowaniem. Mutacje WT1, CTNNB1 i WTX występują w około 33% przypadków, często współwystępując, co sugeruje synergistyczną rolę w karcynogenezie. Guz rozwija się z resztek nefrogennych obecnych u około 1% niemowląt, które w 100% występują w obustronnych i 35% jednostronnych guzach Wilmsa. Sporadyczne przypadki stanowią około 90%, natomiast 1-2% ma charakter rodzinny z dziedziczeniem autosomalnym dominującym, gdzie mutacje WT1 są kluczowe, a loci FWT1 (17q12-q21) i FWT2 (19q13) również zaangażowane.

Etiologia guzów Wilmsa

Guz Wilmsa, znany również jako nerczak zarodkowy lub nephroblastoma, jest najczęstszym typem nowotworu nerki występującym u dzieci, stanowiącym około 7% wszystkich nowotworów wieku dziecięcego. W Stanach Zjednoczonych diagnozuje się rocznie około 500 przypadków tej choroby. Mimo że etiologia guzów Wilmsa nie jest w pełni poznana, badania naukowe pozwoliły zidentyfikować szereg czynników genetycznych, rozwojowych i środowiskowych, które mogą przyczyniać się do jego powstawania.12

Podłoże genetyczne

Guz Wilmsa jest silnie związany z mutacjami genetycznymi, szczególnie w genach supresorowych nowotworów, które odgrywają kluczową rolę w rozwoju nerek. Zmiany genetyczne zidentyfikowane w guzach Wilmsa obejmują:34

  • Mutacje w genie WT1 (Wilms Tumor 1) zlokalizowanym na chromosomie 11p13, który jest genem supresorowym nowotworu
  • Zmiany w genie CTNNB1, który koduje beta-kateninę
  • Inaktywacja genu WTX (AMER1) zlokalizowanego na chromosomie X
  • Mutacje w genach TP53 i MYNC
  • Utrata heterozygotyczności na chromosomach 1p, 1q, 11p15 i 16q, co wiąże się z gorszym rokowaniem

356

Badania wykazały, że mutacje w genach WT1, CTNNB1 i WTX występują w około jednej trzeciej wszystkich przypadków guzów Wilmsa. Co interesujące, mutacje w CTNNB1 często współwystępują z mutacjami WT1, co sugeruje, że te dwa zdarzenia mogą współdziałać w powstawaniu guza Wilmsa.78

Zidentyfikowano również drugi gen predysponujący do rozwoju guza Wilmsa (ale jeszcze nie sklonowany) telomerycznie do WT1, na 11p15. Jest to tak zwany region WT2, który również odgrywa rolę w patogenezie tego nowotworu.6

Guzy Wilmsa pochodzenia sporadycznego

Zdecydowana większość (około 90%) przypadków guzów Wilmsa występuje sporadycznie, bez wyraźnej przyczyny czy historii rodzinnej choroby. Te przypadki są zazwyczaj wynikiem somatycznych mutacji genetycznych, które pojawiają się podczas wczesnego rozwoju lub krótko po urodzeniu. Choć dokładna przyczyna tych mutacji pozostaje nieznana, uważa się, że są one raczej przypadkowymi zdarzeniami w komórkach, a nie wynikiem czynników środowiskowych czy związanych ze stylem życia.912

Guzy Wilmsa często rozwijają się z przetrwałej tkanki metanefrycznej lub resztek nefrogennych (nephrogenic rests). Są to fragmenty tkanki w nerce lub wokół niej, które rozwijają się przed urodzeniem i mogą stać się nowotworowe po urodzeniu. Reszty nefrogenne występują u około 1% niemowląt, ale zwykle zanikają w dzieciństwie. Są one obecne w prawie 100% przypadków obustronnych guzów Wilmsa i około 35% jednostronnych.37

Dziedziczne predyspozycje

Około 1-2% przypadków guzów Wilmsa ma charakter rodzinny, co sugeruje dziedziczną predyspozycję genetyczną. W tych przypadkach choroba może być przekazywana zgodnie z autosomalnym dominującym wzorcem dziedziczenia, co oznacza, że pojedyncza kopia zmutowanego genu wystarcza do pełnej ekspresji choroby.101112

Badania wykazały, że na poziomie molekularnym wewnątrz komórek obie kopie genu WT1 muszą ulec mutacji, aby zainicjować powstawanie guzów nerki. Jedna z tych mutacji jest dziedziczona i obecna we wszystkich komórkach, podczas gdy druga pojawia się losowo podczas normalnego wzrostu komórek w tkance nerki. To właśnie ta nabyta druga mutacja wyzwala powstawanie guza w dotkniętej tkance.13

Na podstawie analizy sprzężeń w dużych rodowodach z rodzinną transmisją podatności na guza Wilmsa zidentyfikowano trzy loci zaangażowane w rodzinne guzy Wilmsa:614

  • WT1 na chromosomie 11p13
  • FWT1 na chromosomie 17q12-q21
  • FWT2 na chromosomie 19q13

Zespoły genetyczne związane z guzami Wilmsa

Około 10-15% dzieci z guzem Wilmsa ma również określone zespoły genetyczne lub wrodzone wady rozwojowe, które zwiększają ryzyko rozwoju tego nowotworu. Najważniejsze z nich to:1516

Zespół WAGR

Akronim WAGR odnosi się do zespołu objawów:1617

  • Wilms tumor – guz Wilmsa
  • Aniridia – całkowity lub częściowy brak tęczówki oka
  • Genitourinary abnormalities – nieprawidłowości układu moczowo-płciowego
  • Range of developmental disabilities – spektrum niepełnosprawności rozwojowych, w tym zaburzenia behawioralne i psychiatryczne oraz zaburzenia ze spektrum autyzmu

Zespół WAGR jest spowodowany delecją w regionie chromosomu 11 (del(11p13)), obejmującą gen WT1. Ryzyko rozwoju guza Wilmsa u dzieci z zespołem WAGR wynosi około 45-60%, a mediana wieku w momencie diagnozy to 22 miesiące. U tych pacjentów występuje wyższa częstość obustronnych guzów Wilmsa (37%) w porównaniu do dzieci z niesyndromicznymi guzami Wilmsa.151819

Zespół Denysa-Drasha

Zespół Denysa-Drasha charakteryzuje się:2017

  • Niewydolnością nerek (skleroza kłębuszków nerkowych)
  • Nieprawidłowym rozwojem narządów płciowych (u chłopców może występować pseudohermafrodytyzm – posiadają jądra, ale również cechy żeńskie)
  • Wysokim ryzykiem rozwoju guza Wilmsa

Zespół ten jest również związany z mutacjami w genie WT1. Ryzyko rozwoju guza Wilmsa u dzieci z zespołem Denysa-Drasha wynosi około 90%, a choroba obustronna rozwija się u 20% pacjentów.1811

Zespół Beckwitha-Wiedemanna

Zespół Beckwitha-Wiedemanna jest zespołem przerostu charakteryzującym się:2017

  • Asymetrycznym wzrostem jednej lub więcej części ciała (hemihypertrofia)
  • Powiększonym językiem (makroglosja)
  • Przepukliną pępowinową lub pępkową przy urodzeniu
  • Zmarszczkami lub zagłębieniami w skórze w pobliżu uszu
  • Nieprawidłowościami nerek
  • Hipoglikemią (u noworodków)

Zespół Beckwitha-Wiedemanna jest związany ze zmianami w regionie WT2 na chromosomie 11p15 i nadmierną ekspresją genu IGF2. Około 5-10% dzieci z tym zespołem rozwija guza Wilmsa, a około 15% z nich ma guzy obustronne.1821

Inne zespoły genetyczne

Do innych zespołów genetycznych zwiększających ryzyko rozwoju guza Wilmsa należą:222324

  • Zespół Frasiera – podobny do zespołu Denysa-Drasha, ale nerki mogą funkcjonować do okresu dojrzewania; związany z mutacjami w genie WT1
  • Zespół Perlmana – charakteryzuje się gigantyzmen płodowym, dysplazją nerek i nephroblastomatosis; przeżywający mają wysokie ryzyko (75%) rozwoju guza Wilmsa
  • Zespół Simpsona-Golabiego-Behmela – około 10% dzieci z tym zespołem rozwija nowotwory, najczęściej guz Wilmsa
  • Zespół Blooma – dzieci mają około 3% ryzyko rozwoju pewnych nowotworów, w tym guza Wilmsa
  • Zespół Li-Fraumeni – dziedziczny zespół związany z wyższym ryzykiem rozwoju określonych nowotworów, w tym guza Wilmsa
  • Trisomia 18 (zespół Edwardsa)
  • Zespół Sotosa

Nieprawidłości rozwojowe związane z guzami Wilmsa

Pewne wrodzone wady rozwojowe mogą zwiększać ryzyko rozwoju guza Wilmsa, nawet przy braku zidentyfikowanego zespołu genetycznego. Należą do nich:2526

  • Aniridia – całkowity lub częściowy brak tęczówki (kolorowej części) oka
  • Hemihypertrofia – asymetryczny przerost powodujący, że jedna strona ciała jest zauważalnie większa od drugiej
  • Wnętrostwo (cryptorchidism) – niezstąpienie jąder do moszny
  • Spodziectwo (hypospadias) – wada wrodzona, w której ujście cewki moczowej znajduje się na dolnej powierzchni prącia
  • Nerka podkowiasta
  • Inne nieprawidłowości układu moczowego

Te wady rozwojowe są związane z guzem Wilmsa, chociaż mało prawdopodobne jest, aby odgrywały bezpośrednią rolę w karcynogenezie.3

Czynniki demograficzne i środowiskowe

Oprócz czynników genetycznych, pewne czynniki demograficzne i środowiskowe mogą wpływać na ryzyko rozwoju guza Wilmsa:2728

  • Wiek – Guz Wilmsa najczęściej dotyka małe dzieci w wieku 3-4 lat. Starsze dzieci i dorośli rzadko rozwijają tę chorobę.
  • Płeć – Ryzyko jest nieco wyższe u dziewczynek niż u chłopców.
  • Rasa i pochodzenie etniczne – W Stanach Zjednoczonych ryzyko rozwoju guza Wilmsa jest nieco wyższe wśród Afroamerykanów i najniższe wśród Azjoamerykańów.

Narażenie matki na pestycydy podczas ciąży wiązało się z ryzykiem guza Wilmsa u dzieci (iloraz szans [OR], 1,6).22 Jednak ogólnie rzecz biorąc, nie ma silnych dowodów na wpływ określonych czynników środowiskowych na rozwój guza Wilmsa.2

Mechanizm rozwoju guza Wilmsa

Guz Wilmsa rozwija się z komórek nerek zarodka. W trakcie normalnego rozwoju, komórki nerek przechodzą proces różnicowania i dojrzewania. U dzieci z guzem Wilmsa, ten proces ulega zaburzeniu:2930

  1. Podczas rozwoju płodu w łonie matki, nerki rozwijają się bardzo wcześnie.
  2. Czasami coś idzie nie tak, powodując, że niektóre wczesne (niedojrzałe) komórki (lub nefroblasty) nie rozwijają się w dojrzałe komórki nerek.
  3. Te niedojrzałe komórki zwykle zanikają przy urodzeniu lub dojrzewają w ciągu pierwszych 3-4 lat życia dziecka.
  4. Jeśli jednak te komórki nie dojrzewają i pozostają w stanie niedojrzałym, mogą zacząć niekontrolowanie się dzielić i rosnąć.
  5. Nagromadzenie tych nieprawidłowych komórek prowadzi do powstania guza.

Ten mechanizm rozwoju wyjaśnia, dlaczego guz Wilmsa najczęściej diagnozowany jest u dzieci w wieku 3-4 lat, kiedy te niedojrzałe komórki powinny już normalnie zaniknąć lub dojrzeć.31

Podsumowanie etiologii guzów Wilmsa

Etiologia guza Wilmsa jest złożona i obejmuje szereg czynników genetycznych, rozwojowych i środowiskowych. Chociaż dokładna przyczyna większości przypadków pozostaje nieznana, badania wykazały, że:232

  • Większość guzów Wilmsa (około 90%) występuje sporadycznie, bez wyraźnej przyczyny genetycznej czy rodzinnej
  • Około 10-15% przypadków jest związanych z określonymi zespołami genetycznymi lub wadami wrodzonymi
  • Około 1-2% przypadków ma charakter rodzinny
  • Mutacje w genach takich jak WT1, CTNNB1, WTX, TP53 i innych odgrywają rolę w patogenezie
  • Guz Wilmsa często rozwija się z resztek nefrogennych – fragmentów niedojrzałej tkanki nerki, które przetrwały po urodzeniu
  • Czynniki demograficzne, takie jak wiek, płeć i pochodzenie etniczne, mogą wpływać na ryzyko
  • Nie zidentyfikowano jednoznacznych czynników środowiskowych, chociaż ekspozycja na pestycydy w okresie prenatalnym może zwiększać ryzyko

Zrozumienie złożonej etiologii guza Wilmsa ma istotne znaczenie dla opracowania strategii wczesnego wykrywania, profilaktyki i leczenia tej choroby, szczególnie u dzieci z rozpoznanymi czynnikami ryzyka genetycznego.33

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Wilms Tumor | Causes, Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/w/wilms-tumor
    Wilms tumor is a rare kidney cancer that mainly affects children. It is the most common type of kidney cancer in childhood. It accounts for about 7% of all pediatric cancers. About 500 children in the United States are diagnosed with this each year. […] Its unclear what causes Wilms tumor. Most cases happen by chance. They are caused by genetic mutations (changes) in the kidney cells that happen after birth. […] In some cases, patients are born with genetic mutations in all cells. They are at risk for other medical problems as well. […] A small number of people with Wilms tumor may also have one of these genetic syndromes: WAGR syndrome, Denys-Drash syndrome, Beckwith-Wiedemann syndrome.
  • #2 Causes of Wilms Tumors | American Cancer Society
    https://www.cancer.org/cancer/types/wilms-tumor/causes-risks-prevention/what-causes.html
    Its not always clear exactly what causes Wilms tumors. […] There is a clear link between Wilms tumors and certain birth defect syndromes and genetic changes. But most children with this type of cancer do not have any known birth defects or inherited gene changes. […] Changes in certain genes in early kidney cells can lead to problems as the kidneys develop. […] Sometimes these gene changes are passed on from a parent to a child (inherited). But most Wilms tumors dont seem to be caused by inherited gene mutations. Instead, they seem to be caused by gene changes that happen early in a childs life, perhaps even before birth. […] Researchers now understand some of the gene changes that can occur in Wilms tumors, but its still not clear what causes these changes. […] Some gene changes may just be random events that sometimes happen inside a cell, without having an outside cause. There are no known lifestyle-related or environmental causes of Wilms tumors, so it’s important to know that there is nothing these children or their parents could have done to lower the risk of these cancers.
  • #3 Wilms Tumor – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK442004/
    The cause of Wilms tumor is not precisely known, but it is believed to be due to genetic alterations that deal with the normal embryological development of the genitourinary tract. Some of the genetic markers that have been associated with Wilms tumor include WT1, CTNNB1, and WTX gene alterations that have been found in about 1/3 of all Wilms tumors. […] Other genes associated with Wilms tumor include TP53 and MYNC. A poorer prognosis has been linked to TP53 and with the loss of heterozygosity at chromosomes 1p, 1q, 11p15, and 16q. […] Wilms is thought to develop from persistent metanephric tissue or nephrogenic rests. These may occur in 1% of infantile kidneys but typically regress during childhood. […] Hemihypertrophy and aniridia as well as a variety of urological disorders like cryptorchidism, horseshoe kidney, and hypospadias, are associated with the malignancy although it is unlikely they play any role in actual carcinogenesis.
  • #4 Wilms tumor: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/wilms-tumor/
    Wilms tumor is a form of kidney cancer that primarily develops in children. […] Changes in any of several genes are involved in the formation of Wilms tumor. Wilms tumor is often associated with variants (also called mutations) in the WT1 gene, CTNNB1 gene, or AMER1 gene. […] Changes on the short (p) arm of chromosome 11 are also associated with developing Wilms tumor. […] In most cases of Wilms tumors involving one kidney and nearly all cases involving both kidneys, the tumors are thought to arise from immature kidney tissue that never developed properly. […] Genetic conditions that share a genetic cause with Wilms tumor can also have this cancer as a feature. […] Many children with Wilms tumor do not have identified variants in any of the known genes. In these cases, the cause of the condition is unknown.
  • #5 Wilms Tumor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/989398-overview
    Wilms tumor is thought to be caused by alterations of genes responsible for normal genitourinary development. Examples of common congenital anomalies associated with Wilms tumor are cryptorchidism, a double collecting system, horseshoe kidney, and hypospadias. Environmental exposures, although considered, seem relatively unlikely to play a role. […] In the early 1970s, Knudson and Strong proposed a genetic model for the development of Wilms tumor. […] WT1, the first Wilms tumor suppressor gene at chromosomal band 11p13, was identified as a direct result of the study of children with Wilms tumor who also had aniridia, genitourinary anomalies, and intellectual disability (WAGR syndrome). […] Characterization of this novel tumor suppressor gene has provided insight into the mechanisms underlying normal kidney development and Wilms tumorigenesis. The WT1 gene is the specific target of mutations and deletions in a subset of patients with sporadic Wilms tumors, as well as in the germline of some children (eg, those with Denys-Drash syndrome) with a genetic predisposition to develop this cancer.
  • #6 Wilms Tumor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/989398-overview
    A second gene that predisposes individuals to develop the Wilms tumor has been identified (but has not yet been cloned) telomeric of WT1, at 11p15. […] Results of linkage analyses in large pedigrees with familial transmission of susceptibility to the Wilms tumor suggest the existence of additional genetic loci. […] Finally, loci at 16q, 1p, 7p, and 17p have also been implicated in the biology of Wilms tumor, although these loci do not seem to predispose individuals to develop a Wilms tumor. Instead, they seem to be associated with the phenotype or the outcome. […] In addition to WT1 and the 11p15 locus, studies found evidence implicating pathogenic germline variants of CTR9, REST, and TRIM28 in predisposition to Wilms tumor.
  • #7 Wilms Tumor – MD Searchlight
    https://mdsearchlight.com/cancer/wilms-tumor/
    Wilms tumor is a type of kidney cancer that predominantly affects children. While the exact cause is not known, it is believed that changes in certain genes that control the development of the urinary (genitourinary) tract could be responsible. These genes include WT1, CTNNB1, WTX, TP53, and MYNC, with WT1, CTNNB1, and WTX being altered in roughly one-third of all cases of Wilms tumor. […] Its thought that Wilms tumor develops from abnormally persistent tissue, or nephrogenic rests, in the developing kidneys. These are present in about 1% of infant kidneys, but they usually disappear as the child grows. However, these abnormal cells are found in up to 100% of cases of Wilms tumor affecting both kidneys, but only 35% of tumors affecting just one kidney. […] Certain physical characteristics and disorders are linked to Wilms tumor, including large body parts on one side of the body (hemihypertrophy), absence of the iris part of the eye (aniridia), undescended testes (cryptorchidism), an abnormal kidney shape (horseshoe kidney), and a misplaced opening of the penis (hypospadias). However, these associations dont necessarily mean they cause the cancer.
  • #8 Wilms’ Tumor | Oncohema Key
    https://oncohemakey.com/wilms-tumor-2/
    Activating mutations in the gene encoding -catenin (CTNNB1) occur in approximately 15% of Wilms tumors. […] Interestingly, mutations in CTNNB1 occur mostly in tumors in which WT1 is also mutated, suggesting that these two events cooperate in the formation of Wilms tumor. […] WTX, a recently discovered novel Wilms tumor suppressor gene on the X chromosome, is inactivated in one third of sporadic Wilms tumor cases. […] Loss of heterozygosity (LOH) at 1p and 16q is associated with higher relapse rates.
  • #9 Wilms tumor: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/wilms-tumor/
    Most cases of Wilms tumor are not caused by inherited genetic factors and do not cluster in families. […] Variants that are present in cells throughout the body (called germline variants) are responsible for the remaining 10 percent of Wilms tumor cases and cause either Wilms tumor without any other signs or symptoms or syndromes in which Wilms tumor is one of multiple features. […] In many cases, the genetic basis for Wilms tumor and the mechanism of inheritance are unclear.
  • #10 Wilms Tumor: Causes, Symptoms, Prognosis, Treatment
    https://my.clevelandclinic.org/health/diseases/23259-wilms-tumor
    Wilms tumor has been passed down in the genes of a very small percentage of families. […] Although a small number of people inherit a gene for Wilms tumor, we dont really know what causes it. […] Theres nothing you or your child can do to cause or prevent Wilms tumor.
  • #11 Risk factors for Wilms tumour | Canadian Cancer Society
    https://cancer.ca/en/cancer-information/cancer-types/wilms-tumour/risks
    Children with Frasier syndrome have about an 8% risk of developing Wilms tumour. […] Children with Beckwith-Wiedemann syndrome have about a 5% risk of developing Wilms tumour. […] Children with Bloom syndrome have about a 3% risk of developing certain cancers, including Wilms tumour. […] Li-Fraumeni syndrome is an inherited condition that is associated with a higher risk for certain types of cancers, including Wilms tumour. […] A small number of Wilms tumours develop in children who have family members with the disease. About 1% to 2% of children diagnosed with Wilms tumour have a family history of the disease. […] A high birth weight and Sotos syndrome have both been linked with Wilms tumour, but there is not enough evidence to show for sure that they are risk factors.
  • #11 Risk factors for Wilms tumour | Canadian Cancer Society
    https://cancer.ca/en/cancer-information/cancer-types/wilms-tumour/risks
    A risk factor is something that increases the risk of developing cancer. It could be a behaviour, substance or condition. Most cancers are the result of many risk factors. But sometimes Wilms tumour develops in children who dont have any of the risk factors described below. […] Children with certain genetic conditions have a higher than average risk for Wilms tumour. […] There is convincing evidence that the following factors increase your risk for Wilms tumour. […] About 90% of children with Denys-Drash syndrome develop Wilms tumour in one or both kidneys. […] Babies and children with Perlman syndrome have about a 33% risk of developing Wilms tumour. […] About 10% of children with Simpson-Golabi-Behmel syndrome will develop non-cancerous or cancerous tumours during childhood. The most common of these cancers is Wilms tumour.
  • #12 Wilms’ tumor | EBSCO Research Starters
    https://www.ebsco.com/research-starters/health-and-medicine/wilms-tumor
    The great majority of cases of Wilms tumor are sporadic (nonfamilial), and they are believed to arise as the result of genetic mutations in the kidney tissue either before or shortly after birth. Less than 5 percent of all cases are inherited, and even among these it appears that mutations in any of several different genes may be responsible. […] Other genes known to be associated with genetic predisposition to Wilms tumor include WT2 (at position 11p15.5) and WTX (on the X chromosome). Other genes and chromosomes that may be involved in Wilms tumor include chromosomes 16q and 1p, gene CACNA1E (at position 1q25.3), genes MEOX2 and SOSTDC1 (at position 7p21), SKCG-1 (at position 11q23.2), TP53 gene, FBXW7 gene, and MYCN gene. […] The inheritance of familial Wilms tumor follows a classic autosomal dominant pattern, meaning that a single copy of the mutation is sufficient to cause full expression of the disease. An affected individual has a 50 percent chance of transmitting the mutation to each of his or her children.
  • #13 Wilms’ tumor | EBSCO Research Starters
    https://www.ebsco.com/research-starters/health-and-medicine/wilms-tumor
    It has been shown that at the molecular level within cells, both copies of the WT1 gene must be mutated in order to initiate the formation of kidney tumors. One of these mutations is the inherited one that is present in all cells, while the second occurs randomly during normal cell growth in kidney tissue. It is this acquired second mutation that triggers tumor formation in the affected tissue.
  • #14 Wilms Tumour | Cancer Genetics Web
    https://www.cancer-genetics.org/X210202.htm
    Hereditary Wilms’ tumour (defined as either bilateral disease or a family history of Wilms’ tumour) is uncommon. […] The proportion of bilateral cases is 4.6% and there are 12 patients (2.4%) with a positive family history of Wilms’ tumor. […] These observations suggest that the fraction of Wilm’s tumors that is due to an inherited mutation may be substantially smaller than previously supposed and support the concept that the disease arises from a variety of pathogenetic pathways. […] Three loci have been implicated in familial Wilms tumour: WT1 located on chromosome 11p13, FWT1 on 17q12-q21, and FWT2 on 19q13. […] Familial predisposition to Wilms’ tumor (WT), a childhood kidney tumor, is inherited as an autosomal dominant trait. […] In addition, we observed loss of heterozygosity at 19q in tumors from individuals from two families in which 19q can be ruled out as the site of the inherited predisposing mutation.
  • #15 Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/kidney/hp/wilms-treatment-pdq
    Wilms tumor typically develops in otherwise healthy children without any predisposition to developing cancer. However, approximately 10% of children with Wilms tumor have been reported to have a congenital anomaly. In patients with congenital anomalies and Wilms tumor, nephrogenic rests have been reported in 60% of cases. Of 295 consecutive patients with Wilms tumor seen at the Institut Curie in Paris, 52 (17.6%) had anomalies or syndromes, 43 of which were considered major, and 14 of which were genetically proven tumor predisposition syndromes. […] The risk of Wilms tumor development in children with WAGR syndrome is approximately 50%. These children will present earlier (median age, 22 months) and have a higher incidence of bilateral Wilms tumors (37%) than children with nonsyndromic Wilms tumors.
  • #16 Wilms Tumor (Nephroblastoma): Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/cancer-care/wilms-tumor
    Abnormalities or other syndromes. Certain birth defects can predispose a child to developing Wilms tumor. These birth defects are sometimes called syndromes. Syndromes include certain symptoms, signs, and other abnormalities that occur at the same time. It is estimated that about one in 10 children with a particular syndrome will also develop Wilms tumor. Examples of such syndromes include: […] WAGR syndrome. This acronym refers to the physical and mental conditions that occur with this kind of tumor: […] Wilms tumor […] Aniridia, a complete or partial lack of iris (color part) in the eye […] Genitourinary tract abnormalities, including defects of the kidneys, urinary tract, penis, scrotum, clitoris, testicles, or ovaries […] Range of mental disabilities, including behavioral and psychiatric disorders, and autism spectrum disorder
  • #17 Wilms Tumor: Causes, Types, Symptoms, Diagnosis, and Treatment
    https://www.webmd.com/cancer/what-is-wilms-tumor
    All cancers happen when cells in your body start to grow out of control. If your child has a Wilms tumor, their kidney cells didn’t grow like they should have. Instead, they turned into cancer cells. Most of the time, this is because of a random change in a gene. Rarely, it’s because of gene changes handed down from a parent. […] Things that might make a child more likely to have a Wilms tumor include: […] Family history. If someone in your family has had a Wilms tumor, the odds are higher that your child will get it, too. […] Another health condition. A Wilms tumor sometimes happens in children who have other rare conditions: […] WAGR syndrome causes problems in the urinary tract. […] Boys with Denys-Drash syndrome have testicles but also have female traits. […] Microcephaly is when a baby is born with an unusually small head. […] Beckwith-Wiedemann syndrome causes internal organs that are larger than usual.
  • #18 Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/kidney/hp/wilms-treatment-pdq
    WT1-related syndromes include the following: WAGR syndrome (WAGR spectrum) is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and a range of developmental delays. The constellation of WAGR syndrome occurs in association with an interstitial deletion on chromosome 11 (del(11p13)). […] The risk of Wilms tumor is about 90% for children with Denys-Drash syndrome, and bilateral disease develops in 20% of patients. […] Beckwith-Wiedemann syndrome is an overgrowth syndrome characterized by asymmetric growth of one or more parts of the body, large tongue, omphalocele or umbilical hernia at birth, creases or pits in the skin near the ears, kidney abnormalities, and hypoglycemia (in neonates). […] Approximately 15% of children with Beckwith-Wiedemann syndrome will have bilateral tumors.
  • #19 About WAGR – W is for Wilms Tumor
    https://wagr.org/wilms-tumor
    Wilms tumor is a solid cancerous tumor of the kidney. It is the most common form of kidney cancer in children. […] Children with WAGR syndrome are at increased risk for developing Wilms tumor. This increased risk is the result of a mutation in the WT1 gene, which is located within the region of the genetic abnormality that causes WAGR syndrome. About 50 percent of children with WAGR syndrome develop Wilms tumor. […] Although rare, Wilms tumor has been reported in individuals with WAGR syndrome up to age 19. […] Nephrogenic rests are common in children with WAGR syndrome. A nephrogenic rest is a cluster of immature cells in the kidney that persists after birth. Nephrogenic rests are not malignant (cancerous) but they may sometimes transform into Wilms tumor. […] Some evidence indicates that chemotherapy may decrease the risk for subsequent Wilms tumor development in children with nephrogenic rests.
  • #20 Wilms Tumor (Nephroblastoma): Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/cancer-care/wilms-tumor
    Denys-Drash syndrome. With this syndrome, the kidneys stop working, eventually causing Wilms tumor to develop in the diseased kidney(s). Additionally, reproductive organs do not develop properly. It is recommended that the diseased kidney(s) be removed if this syndrome develops, as the risk of Wilms tumor is greatly increased […] Frasier syndrome. This is similar to Denys-Drash syndrome, except the kidneys may continue to function until adolescence; however, the risk of developing Wilms tumor and cancer of the reproductive organs increases significantly. […] Beckwith-Wiedemann syndrome. This syndrome is caused by a defective chromosome. It affects children’s growth, making parts of their body larger than normal, including their internal organs, tongue, and possibly arms or legs. Children with this syndrome may also experience other medical difficulties. Children with this condition have a 5 percent chance of having Wilms tumor.
  • #21 Wilms Tumor (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/wilms.html
    Most of the time, Wilms tumor is caused by a gene change (mutation). The gene change causes the kidney cells to develop into a tumor. Doctors dont know why these gene changes happen. […] But some kinds of genetic syndromes make children more likely to get it. These include: Beckwith-Wiedemann syndrome(larger-than-normal internal organs), WAGR (problems with the iris, kidneys, urinary tract, genitalia, and intellectual development), Denys-Drash syndrome (problems with the kidneys and how the genitalia was formed).
  • #22 Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/kidney/hp/wilms-treatment-pdq
    Other syndromic causes of Wilms tumor include Perlman syndrome, which is characterized by fetal gigantism, renal dysplasia and nephroblastomatosis, islet cell hypertrophy, multiple congenital anomalies, and intellectual disability. Survivors have a high risk of developing Wilms tumor (75%). […] Familial Wilms tumor is uncommon, with approximately 2% of patients having a positive family history of Wilms tumor. […] Maternal pesticide exposure during pregnancy was associated with a risk of Wilms tumor in children (odds ratio [OR], 1.6).
  • #23 Wilms’ Tumor: Causes, Symptoms, and Diagnosis
    https://www.healthline.com/health/wilms-tumor
    Doctors arent exactly sure what causes Wilms tumor. So far, researchers havent found any clear links between Wilms tumor and environmental factors, like drugs, chemicals, or infectious agents, either during a mothers pregnancy or after birth. […] However, researchers believe certain genetic factors might increase a childs risk or predispose children to develop Wilms tumor. […] This is because kids with Wilms tumor often have mutations in certain genes, including the WT1 gene, the CTNNB1 gene, or the AMER1 gene three genes that help the body make proteins and manage cell growth. […] The following genetic syndromes might also increase a childs risk for Wilms tumor: Beckwith-Wiedemann syndrome, where children have a 5 to 10 percent chance of developing Wilms; WAGR syndrome, where children have a 50-50 chance of developing Wilms tumor; Denys-Drash syndrome; Frasier syndrome; Perlman syndrome; Sotos syndrome; Simpson-Golabi-Behmel syndrome; Bloom syndrome; Li-Fraumeni syndrome; Trisomy 18, also called Edwards Syndrome.
  • #24 Wilm’s Tumor: Causes, Symptoms and Treatment
    https://www.netmeds.com/health-library/post/wilms-tumor-causes-symptoms-and-treatment?srsltid=AfmBOorV-f1SbMNW2FGH1Yk_XaiGd1puw97zNcJ8Q-wwn4m0p0ijFMF1
    Wilms’ tumor can occur as part of rare syndromes like Dennis-Drash syndrome (i.e. Wilms’ tumor, kidney disease and male pseudo hermaphroditism; a condition where a boy is born with testicles but still show female characteristics), WGAR syndrome (i.e. Wilms’ tumor, aniridia, genital and urinary system abnormalities, and intellectual disabilities) and Beckwith-Wiedemann syndrome (i.e. Children born with abnormally large organs). Other syndromes that increase the chance of Wilms Tumor include Frasier syndrome, Simpson-Golabi-Behmel syndrome, Perlman syndrome, Bloom syndrome, Sotos syndrome and Li-Fraumeni syndrome.
  • #25 Wilms Tumor (Nephroblastoma): Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/cancer-care/wilms-tumor
    […] […] Birth defects. Certain birth defects can increase a child’s risk of developing Wilms tumor: […] Aniridia. This causes a complete or partial absence of the iris (the colored part) in the eye. […] Hemihypertrophy. This causes people to develop an oversized arm or leg on one side of the body. […] Cryptorchidism. This prevents the testicles from descending into the scrotum. […] Hypospadias. This causes the urethra (the urinary opening of the penis) to be located on the underside of the penis.
  • #26 Wilms’ Tumor: Causes, Symptoms, and Diagnosis
    https://www.healthline.com/health/wilms-tumor
    Frasier syndrome, WAGR syndrome, and Denys-Drash syndrome are linked to changes or mutations in the WT1 gene. Beckwith-Wiedemann syndrome, a growth disorder that causes body and organ enlargement, is linked to a mutation in the WT2 gene. […] However, changes in these genes only account for a small percentage of Wilms tumors. There are likely other gene mutations that havent yet been discovered. […] Children with certain development irregularities may also be more likely to have Wilms tumor. The following conditions are associated with the condition: aniridia, which is when a child has a missing or partially missing iris; hemihypertrophy, which is when one side of the body is larger than the other; cryptorchidism, or undescended testicles; hypospadias, which is when the urinary opening is on the underside of the penis. […] According to the American Cancer Society, Wilms tumor occurs slightly more often in African-American children than in white children. It occurs least often in Asian-American children. […] The risk of developing Wilms tumor appears to also be more common in children assigned female at birth.
  • #27 Wilms Tumor (Nephroblastoma): Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/cancer-care/wilms-tumor
    […] […] Researchers have not yet identified any definitive causes of Wilms tumor, although some factors may increase the risk of developing this kind of cancer: […] Age. Wilms tumor usually affects young children between 3 to 4 years old. Older children and adults rarely develop this condition. […] Race, ethnicity, and gender. In the United States, the risk of developing Wilms tumor is slightly higher among African Americans and is lowest among Asian Americans. The risk is also slightly higher for biologically female children than it is for biologically male children. […] Heredity. About one to two percent of children with Wilms tumor have a relative with this type of cancer. In these cases, it is believed that chromosomal damage is inherited from a parent. In addition, the risk of having Wilms tumor in both kidneys is slightly higher for children with a family history. However, most children develop the condition in only one kidney.
  • #28 Wilms’ tumor: Symptoms, treatment, and causes
    https://www.medicalnewstoday.com/articles/188130
    Wilms tumor, or nephroblastoma, is a rare type of kidney cancer. […] Research continues into the exact cause of a Wilms tumor, but it most likely starts with faulty kidney cell development before birth. […] The abnormal cells multiply in their primitive state and become a tumor, which is usually detectable at the age of 3 to 4 years. […] Genetic factors: Genes that control cell growth mutate, or change, allowing cells to divide and grow in an out of control manner. […] Most Wilms tumors occur by chance. They are sporadic, resulting from genetic mutations that affect cell growth in the kidney. […] Some other factors make a Wilms tumor more likely, including: […] Females have a slightly higher risk of developing a Wilms tumor than males. […] People of black African ancestry have a slightly higher probability of developing Wilms tumors. […] The failure of one or both testicles to descend into the scrotum may increase the risk of developing Wilms tumors. […] Males born with the urethra not located where it should be, at the tip of the penis, have a higher risk of developing Wilms tumors.
  • #29 Wilms Tumor (Nephroblastoma): Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/cancer-care/wilms-tumor
    What Causes Wilms Tumor? […] Scientific research has not yet uncovered a clear-cut reason for the development of Wilms tumor; however, it is apparent that Wilms tumor often appears in conjunction with certain birth defects and genetic mutations. […] Scientists do know that Wilms tumor is caused by DNA changes in the genes of early kidney cells, which affects the healthy development of the kidney. Although children can inherit a gene mutation that can cause Wilms tumor, most gene mutations occur in early childhood, or even during fetal development. Changes in specific genes cause some Wilms tumors, and there are likely other gene changes that have not yet been found. It is not yet known what causes genes to be altered. […] Wilms tumor begins in the kidneys of a developing fetus. During the growth of the kidneys, some cells do not mature; they can remain like this even after the child is born, not maturing until the child is about 3 to 4 years old. If these cells do not mature into healthy kidney cells, they can begin to grow out of control, mutating into cancer cells and eventually resulting in Wilms tumor.
  • #30 Wilms’ Tumor | MD Anderson Cancer Center
    https://www.mdanderson.org/cancer-types/wilms-tumor.html
    Wilms’ tumor is a rare type of kidney cancer that affects children. It also is called nephroblastoma. If Wilms’ tumor is found and treated in the early stages, the chances for successful treatment are as high as 95%. […] Problems that cause Wilms’ tumor may begin before birth. As kidney cells mature in the fetus, they become specialized and form different parts of the kidney. Some of the cells continue developing after birth and mature over the next three or four years. […] However, in children with Wilms’ tumor, the cells remain immature. They begin to grow and reproduce too quickly, forming a tumor. […] Anything that increases your child’s chance of getting Wilms’ tumor is a risk factor. Although we don’t know exactly what causes Wilms’ tumors, some things may make your child more likely to develop the disease. […] Not everyone with risk factors gets Wilms’ tumor. However, if your child has risk factors, you should discuss them with your doctor.
  • #31 Wilms Tumor Causes, Symptoms, Diagnosis and Treatment | Banner
    https://www.bannerhealth.com/healthcareblog/teach-me/wilms-tumor-causes-symptoms-diagnosis-and-treatment
    Its not clear what causes Wilms tumor, but in some rare cases, heredity may play a role. Defects in genes may affect the growth of kidney cells. […] Like many childhood cancers, its appearance under the microscope is that of an immature kidney like that seen in utero, suggesting that it represents a failure of maturation or persistence of fetal tissue due to a genetic abnormality, Dr. Torkildson said. […] Our kidneys develop very early in the womb. Sometimes some of the cells that are supposed to develop into mature cells dont. Instead, these cells may develop errors in the DNA, allowing them to grow and divide uncontrollably and to go on living when other cells would die. These accumulating cells form a tumor. In rare cases, these errors are passed down from parent to the child. But most often there is no known connection between parent and child. Most often we dont know what causes Wilms tumor, Dr. Torkildson said.
  • #32 Wilms Tumor
    https://www.impactguru.com/info/wilms-tumor/
    While the role of environmental factors in Wilms tumor development is less clear compared to other cancers, some studies have suggested potential associations. […] Epigenetic alterations, which affect gene expression without altering the DNA sequence, have been implicated in Wilms tumor development. […] Certain congenital abnormalities and syndromes that affect fetal development, such as horseshoe kidney or renal agenesis, are associated with an increased risk of Wilms tumor. […] In summary, Wilms tumor is a complex disease with multifactorial etiology involving genetic, developmental, and environmental factors. Further research is needed to fully understand the interplay between these factors and their contributions to Wilms tumor development.
  • #33 Survival characteristics of Wilms Tumor, a reference developed from a longitudinal cohort study | Italian Journal of Pediatrics | Full Text
    https://ijponline.biomedcentral.com/articles/10.1186/s13052-024-01698-7
    Patients with distant spread, regional spread, and those with unknown stage had worse CSS than those with localized tumors. […] Geographic and socioeconomic factors are still considered to have direct relationships with the prognosis of several diseases. […] In low- and lower-middle-income countries, treatment abandonment, delayed diagnosis, delayed surgery, advanced disease at presentation, metastatic disease at diagnosis, unfavorable histology, larger tumor volume, malnourishment, recurrence of the disease, and subpar treatment are among the known poor prognostic factors. […] Survival rates for children diagnosed with a WT are subject to diverse factors. These factors encompass the tumor’s stage, the individual’s age and overall health, as well as the efficacy of the treatment plan.