Chondrosarcoma
Etiologia i przyczyny

Chondrosarcoma stanowi drugi co do częstości pierwotny złośliwy nowotwór kości u dorosłych, rozwijający się głównie w tkance chrzęstnej. Patogeneza tego guza wiąże się z mutacjami genów IDH1 i IDH2, obecnymi w 50-70% przypadków, które prowadzą do produkcji 2-hydroksyglutaranu zaburzającego procesy epigenetyczne i proliferację komórek chrzęstnych. Dodatkowo, amplifikacja protoonkogenu c-myc oraz czynników transkrypcyjnych AP-1 (fos/jun) sprzyja niekontrolowanemu wzrostowi i hamowaniu apoptozy. Charakterystyczne są również aberracje chromosomalne w rejonach 9p21, 10, 13q14 i 17p13, dotyczące genów supresorowych. Chondrosarcoma może powstawać de novo lub wtórnie na podłożu łagodnych guzów chrzęstnych, takich jak enchondroma i osteochondroma, z ryzykiem transformacji złośliwej odpowiednio do 1% i 5-10% w przypadku mnogich zmian.

Etiologia chondrosarcoma

Chondrosarcoma to rzadki typ nowotworu kości, który zazwyczaj rozwija się w tkance chrzęstnej. Jest to drugi co do częstości występowania pierwotny nowotwór złośliwy kości u dorosłych. Dokładna przyczyna tego nowotworu nie jest w pełni poznana, jednak naukowcy zidentyfikowali szereg czynników, które mogą odgrywać rolę w patogenezie chondrosarcoma.123

Mutacje genetyczne i zmiany chromosomalne

Badania wskazują, że chondrosarcoma może powstawać w wyniku zmian (mutacji) w DNA komórek chrzęstnych. Mutacje te mogą powodować, że komórki dzielą się szybko i nadal żyją, gdy zdrowe komórki uległyby apoptozie (zaprogramowanej śmierci komórki). Nagromadzenie tych komórek tworzy guz, który może rozrastać się i niszczyć zdrowe tkanki.12

W przypadku chondrosarcoma zidentyfikowano kilka nieprawidłowości chromosomalnych, w tym anomalie w chromosomach 9p21, 10, 13q14 i 17p13. Szczególnie często występują mutacje w genach IDH1 i IDH2, które wykryto w 50-70% przypadków chondrosarcoma. Mutacje te odgrywają kluczową rolę w patogenezie tego nowotworu i są rozważane jako potencjalne cele terapii celowanej.1234

Dodatkowo, amplifikacja protoonkogenu c-myc oraz czynników transkrypcyjnych AP-1 (fos/jun) została powiązana z patogenezą chondrosarcoma. Badania wykazały również niestabilność genetyczną w dobrze zróżnicowanych chondrosarcomach analizowanych za pomocą cytogenetyki.12

Transformacja nowotworów łagodnych

Chondrosarcoma może rozwinąć się de novo (pierwotnie) lub na podłożu istniejących łagodnych zmian chrzęstnych (wtórnie). Wyróżniamy kilka typów łagodnych guzów, które mogą ulec transformacji złośliwej:123

  • Enchondroma – łagodny guz chrzęstny, który rozwija się wewnątrz kości, często atakując kości rąk. Pojedyncze enchondromy rzadko ulegają transformacji złośliwej, jednak ryzyko wzrasta przy ich mnogim występowaniu.12
  • Osteochondroma – łagodny rozrost chrzęstno-kostny na końcach kości długich. Ryzyko transformacji złośliwej pojedynczego osteochondroma wynosi około 1%, natomiast przy mnogich zmianach wzrasta do 5-10%.12

Choroby predysponujące do wystąpienia chondrosarcoma

Niektóre schorzenia znacząco zwiększają ryzyko rozwoju chondrosarcoma:123

  • Choroba Olliera (enchondromatoza) – rzadka choroba charakteryzująca się obecnością mnogich enchondromów, głównie w kościach rąk i stóp. Nie jest dziedziczna, a jej przyczyna pozostaje nieznana. Około 20-30% pacjentów z chorobą Olliera rozwija chondrosarcoma. U wielu pacjentów z tym schorzeniem wykryto mutacje w genach IDH1 lub IDH2.123
  • Zespół Maffucciego – bardzo rzadka choroba charakteryzująca się występowaniem mnogich enchondromów oraz naczyniaków (guzów naczyniowych). Zwiększa ryzyko chondrosarcoma o 25-50%. Podobnie jak w chorobie Olliera, u wielu pacjentów wykryto mutacje w genach IDH1 lub IDH2.123
  • Mnogie wyrośla chrzęstno-kostne (Multiple Hereditary Exostoses, MHE) – dziedziczny zespół powodujący powstawanie licznych osteochondromów. Jest zwykle spowodowany przez mutacje w genach EXT1 lub EXT2. Ryzyko transformacji nowotworowej wynosi 5-10%.123
  • Zespół Li-Fraumeni – dziedziczna choroba związana z podwyższonym ryzykiem rozwoju wielu typów nowotworów, w tym chondrosarcoma.123
  • Choroba Pageta – schorzenie charakteryzujące się przyspieszonym i nieprawidłowym metabolizmem kostnym, co może zwiększać ryzyko rozwoju chondrosarcoma.12

Czynniki demograficzne i środowiskowe

Określone czynniki demograficzne mogą wpływać na ryzyko rozwoju chondrosarcoma:12

  • Wiek – chondrosarcoma najczęściej występuje u osób dorosłych powyżej 40. roku życia, a ryzyko wzrasta z wiekiem do około 75. roku życia. Jest rzadko spotykany u dzieci i osób młodych.123
  • Płeć – występuje nieznacznie częściej u mężczyzn niż u kobiet.123
  • Ekspozycja na promieniowanie jonizujące – chondrosarcoma może być późnym następstwem radioterapii stosowanej w leczeniu innych nowotworów, np. chłoniaka Hodgkina czy raka piersi.123

Predyspozycje genetyczne

W niektórych rodzinach zaobserwowano tendencję do częstszego występowania chondrosarcoma lub innych guzów kości, co sugeruje możliwość dziedzicznej predyspozycji do tej choroby. Badania wykazały, że niektóre geny mogą zwiększać ryzyko rozwoju chondrosarcoma, w tym:12

  • EXT1 i EXT2 – związane z mnogimi wyrośla chrzęstno-kostnymi12
  • IDH1 i IDH2 – często zmutowane w chondrosarcoma12
  • INK4A – związany z predyspozycją do chondrosarcoma1
  • COL2A1 – gen kodujący kolagen typu II, mutacje mogą predysponować do chondrosarcoma1
  • EWSR1-NRA3 – fuzja genów obserwowana w niektórych przypadkach chondrosarcoma1

Typy i klasyfikacja chondrosarcoma

Chondrosarcoma można podzielić ze względu na pochodzenie na:12

  • Pierwotny chondrosarcoma – powstaje de novo bez związku z istniejącą wcześniej zmianą12
  • Wtórny chondrosarcoma – rozwija się na podłożu istniejących łagodnych zmian chrzęstnych, takich jak enchondroma czy osteochondroma12

Sporadyczne i dziedziczne przypadki

Większość przypadków chondrosarcoma występuje sporadycznie, bez wyraźnego związku z dziedziczeniem czy określonymi czynnikami ryzyka. Jednak około 10% przypadków związanych jest z pewnymi zespołami genetycznymi lub chorobami, które predysponują do rozwoju tego nowotworu.123

Mechanizmy molekularne rozwoju chondrosarcoma

Na poziomie molekularnym, rozwój chondrosarcoma wiąże się z szeregiem zaburzeń w funkcjonowaniu komórek chrzęstnych:12

Mutacje w genach IDH1 i IDH2 prowadzą do produkcji zmienionego metabolitu – 2-hydroksyglutaranu (2-HG), który zaburza normalne procesy epigenetyczne w komórkach, prowadząc do zaburzeń różnicowania i proliferacji. Amplifikacja protoonkogenu c-myc oraz czynników transkrypcyjnych AP-1 promuje niekontrolowany wzrost komórek i hamuje apoptozę.12

Zmiany w chromosomach 9p21, 10, 13q14 i 17p13 często dotyczą genów supresorowych nowotworów, co prowadzi do utraty kontroli nad podziałami komórkowymi i wzrostem guza. W przypadku odróżnicowanego chondrosarcoma wykryto liczne zmiany genetyczne, ale wspólna utrata chromosomu 13 sugeruje, że komponenty zróżnicowane i odróżnicowane pochodzą od wspólnego prekursora.12

Podsumowanie czynników ryzyka chondrosarcoma

Główne czynniki zwiększające ryzyko rozwoju chondrosarcoma to:123

  • Wiek powyżej 40 lat, ze wzrostem ryzyka do około 75. roku życia12
  • Płeć męska (nieznacznie wyższe ryzyko)12
  • Obecność łagodnych guzów chrzęstnych (enchondroma, osteochondroma)12
  • Choroby predysponujące: choroba Olliera, zespół Maffucciego, mnogie wyrośla chrzęstno-kostne, choroba Pageta, zespół Li-Fraumeni123
  • Wcześniejsza ekspozycja na promieniowanie jonizujące (radioterapia)123
  • Predyspozycje genetyczne i mutacje w określonych genach (IDH1, IDH2, EXT1, EXT2, INK4A)12

Mimo zidentyfikowania wielu czynników ryzyka, dokładny mechanizm powstawania chondrosarcoma pozostaje przedmiotem badań. Większość przypadków występuje sporadycznie, bez możliwości ustalenia jednoznacznej przyczyny. Trwające badania nad molekularnymi podstawami tego nowotworu mogą w przyszłości prowadzić do opracowania skuteczniejszych metod diagnostyki i leczenia.123

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

Materiały źródłowe

  • #1 Chondrosarcoma – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/chondrosarcoma/symptoms-causes/syc-20354196
    Chondrosarcoma is a rare type of cancer that usually begins in the bones, but can sometimes occur in the soft tissue near bones. […] It’s not clear what causes chondrosarcoma. Doctors know that cancer begins when a cell develops changes (mutations) in its DNA. A cell’s DNA contains the instructions that tell it what to do. The instructions tell the cell to multiply quickly and to continue living when healthy cells would die. The accumulating cells form a tumor that can grow to invade and destroy normal body tissue. In time, cells can break away and spread (metastasize) to other areas of the body. […] Factors that can increase the risk of chondrosarcoma include: […] Other bone diseases. Ollier’s disease and Maffucci’s syndrome are conditions that cause noncancerous bone growths (enchondromas) in the body. These growths sometimes transform into chondrosarcoma.
  • #1 Chondrosarcoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK538132/
    The majority of chondrosarcomas are sporadic, but they may develop from the malignant transformation of osteochondromas and enchondromas. Malignant transformation occurs in 5% of osteochondromas either multiple or solitary forms. […] Chondrosarcoma is a tumor of adulthood and older age. The majority of patients are older than 50 years of age at diagnosis, with a slight male predominance. […] Chromosomal anomalies detected in some types of chondrosarcomas include 9p21, 10, 13q14, and 17p13. Chromosomal structural abnormalities and genetic instability are reported in well-differentiated chondrosarcomas analyzed by cytogenetics. Moreover, the amplification of MYC and AP-1 transcription factors plays a vital role in the pathogenesis of chondrosarcoma. […] The rate of metastasis varies according to the grade of chondrosarcoma.
  • #1 Chondrosarcoma: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1258236-overview
    Chondrosarcomas may be divided into primary and secondary lesions on the basis of their origins. Primary chondrosarcomas arise de novo, whereas secondary chondrosarcomas arise from preexisting lesions of the cartilage. […] In addition, the genes responsible for the lesions depend on the primary benign cartilaginous condition. Secondary chondrosarcomas occur in individuals with Ollier disease, Maffucci syndrome, multiple hereditary exostosis (diaphyseal aclasis), solitary osteochondroma, solitary enchondroma, solitary periosteal enchondroma, Paget disease, or radiation injury. […] Amplification of the c-myc proto-oncogene and fos/jun has been implicated in the pathogenesis of chondrosarcoma. […] Numerous genetic alterations have been found for dedifferentiated chondrosarcomas, but a shared loss of chromosome 13 suggests that the differentiated and dedifferentiated components originate from a common precursor. […] Isocitrate dehydrogenase 1 and 2 (IDH1, 2) mutations have been identified in chondrosarcomas.
  • #1 Chondrosarcoma | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/chondrosarcoma-1.html
    Chondrosarcoma is a type of bone cancer that starts in cartilage cells. The exact cause of chondrosarcoma is not known. There may be a genetic change that makes some people more likely to have this cancer. […] Chondrosarcoma is rare in people younger than age 20. Risk goes up with age until about age 75. […] Most often, chondrosarcoma starts in normal cartilage cells. It may also start in a noncancer (benign) bone or cartilage tumor. Here are some of the benign conditions that may be present when chondrosarcoma happens: Enchondroma. This is a type of benign bone tumor that starts in cartilage and often affects the hands. The cause is unknown. […] Multiple hereditary exostoses (MHE). This is a syndrome passed in families (inherited). It causes many osteochondromas. These are overgrowths of cartilage and bone near the end of the growth plate of long bones in the arms or legs. These bone defects can develop into chondrosarcoma.
  • #1
    https://www.orthobullets.com/pathology/8023/chondrosarcoma
    Chondrosarcoma is the second most common malignant primary bone tumor. These cancers are composed of malignant chondrocytes. There are various subtypes of chondrosarcoma, each with unique characteristics. „Conventional” chondrosarcoma accounts for 90% of chondrosarcomas and typically presents in adults over 40 with progressive pain. […] Majority of chondrosarcomas are sporadic (primary chondrosarcomas), but they may develop from the malignant transformation of osteochondromas or enchondromas (secondary chondrosarcomas). […] Mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) identified in primary and secondary conventional chondrosarcomas and enchondromas. […] Osteochondromas account for the majority (80%) of secondary chondrosarcomas. […] Solitary osteochondromas have 1% risk of malignant transformation. […] Multiple hereditary exostosis (5-10% risk of malignant transformation). […] Enchondromas (1% to 9% risk of malignant transformation). […] Ollier’s disease (25-30% risk of malignant transformation). […] Maffucci’s (50% risk of malignant transformation).
  • #1 Chondrosarcoma: Symptoms, Causes & Treatment
    https://my.clevelandclinic.org/health/diseases/22112-chondrosarcoma
    Chondrosarcoma is a type of rare bone cancer that typically develops in cartilage the flexible connective tissue that protects your joints and bones. […] Researchers dont know the exact cause but link the condition to genetic disorders, including: […] Li Fraumeni syndrome: People with this condition are likely to develop cancerous tumors, including chondrosarcomas. […] Maffucci syndrome and Olliers disease: These disorders cause benign tumors in your cartilage, bone and skin. […] Hereditary multiple osteochondromas: These are multiple benign bone tumors that can disrupt your bone growth. […] In some cases, pathologists who study genetic changes in chondrosarcoma think a chromosomal change or certain genetic mutations that arent part of an inherited disorder may change cartilage cells.
  • #1 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    Ollier’s Disease is a condition in which benign tumours in the bones cause the affected bones to swell. The condition usually presents before the age of 10. Patients with Ollier’s Disease have around a 20-25% chance of developing chondrosarcoma. Many Ollier’s Disease patients have mutations in IDH1 or IDH2 genes. […] Maffucci Syndrome is a rare disorder that gives people with this condition a 20-25% risk of developing chondrosarcoma. Many Maffucci Syndrome patients have mutations in IDH1 or IDH2 genes. […] Treatment by radiation or chemotherapy for a pre-existing condition: People who have received radiotherapy for cancer before have a slightly higher chance of developing chondrosarcoma.
  • #1 Risk Factors for Bone Cancer | American Cancer Society
    https://www.cancer.org/cancer/types/bone-cancer/causes-risks-prevention/risk-factors.html
    Older age: Most chondrosarcomas occur in older adults, although they can develop in younger people as well. […] Benign bone tumors: Having certain types of benign (non-cancerous) bone tumors can increase a person’s risk of chondrosarcoma. […] For example, an enchondroma is a benign cartilage tumor that can develop in the middle of a bone. These tumors rarely transform into chondrosarcomas, but people with many of these tumors (a condition called multiple enchondromatosis) have an increased risk of chondrosarcoma. Sometimes this condition is linked with inherited changes in the IDH1 or IDH2 genes. […] Multiple exostoses (also known as multiple osteochondromas) is an inherited condition in which a person has many benign bone tumors called osteochondromas, which are made mostly of cartilage. These tumors can sometimes be painful and can lead to deformed or fractured bones. Each tumor also has a small chance of transforming into a chondrosarcoma. This disorder is most often caused by inherited changes (mutations) in either the EXT1 or EXT2 gene.
  • #1 Chondrosarcoma Causes, Symptoms, and Treatments
    https://www.upmc.com/services/orthopaedics/conditions/chondrosarcoma
    Chondrosarcoma is a rare bone tumor, and doctors aren’t sure what causes it. The tumors may be linked to certain genetic changes in your chromosomes. There are no environmental or lifestyle factors that cause chondrosarcoma. […] You may be at greater risk for developing chondrosarcoma if you already have an underlying bone disease or abnormality. The following conditions are risk factors for chondrosarcoma: Maffucci syndrome, Multiple hereditary exostoses, Ollier’s disease, and Paget’s disease. […] Complications of chondrosarcoma include increasing pain or a growing lump where the tumor is. You may have a hard time moving the affected limb. Conventional chondrosarcomas grow slowly, but some aggressive forms can metastasize (spread) into other organs of the body.
  • #1 Chondrosarcoma Causes | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD
    https://www.aaroncohen-gadol.com/en/patients/chondrosarcoma/types/causes
    Chondrosarcomas develop from the cartilage cells present in bones. The exact cause of chondrosarcomas is not well understood, but there are certain risk factors that have been identified. One of the most significant risk factors for chondrosarcoma is age. Most cases occur in people over 40 years of age, although they can occur in people in their 20s and 30s as well. […] People who have a close relative with chondrosarcoma or other bone tumors may be at an increased risk of developing the condition themselves. Genetic conditions that increase the risk of developing cartilaginous growths, such as Ollier disease and Maffucci syndrome, can also increase the risk of developing chondrosarcoma. […] People who have been treated with radiation for other types of cancer, such as Hodgkins lymphoma or breast cancer, are at an increased risk of developing chondrosarcoma.
  • #1 Chondrosarcoma Causes | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD
    https://www.aaroncohen-gadol.com/en/patients/chondrosarcoma/types/causes
    In some families, there may be a pattern of multiple members being diagnosed with a chondrosarcoma or other bone tumors. This suggests the presence of a genetic component to the condition. Some genes that have been known to place certain people at a higher risk of developing chondrosarcomas include EXT1, EXT2, IDH1, IDH2, and INK4A. Ollier disease, Mafucci syndrome, and multiple hereditary exostosis are also genetic conditions that increase the risk of developing a chondrosarcoma. […] Risk factors associated with developing a chondrosarcoma include age, family history, exposure to ionizing radiation, and some genetic conditions.
  • #1 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    There has been a lot of research into possible causes of chondrosarcoma but the underlying cause remains unknown in most cases. […] It is known that cells contain important information in their chromosomes called genes, which help them to divide and grow normally. Damage to these genes in one single cell can cause the cell to behave differently and grow abnormally, which can then lead to development of cancer. In chondrosarcoma, there is damage to the cell’s genetic information such as abnormalities of genes (mutations) called tumour suppressor genes and oncogenes as well as genes which control the copying of the cell’s DNA. We do not know why the damage occurs in most cases. […] Some recent research has identified a pair of genes that are frequently damaged in chondrosarcoma tumours. Researchers looked in cells from many different chondrosarcoma tumours and found that two genes, called IDH1 and IDH2, were damaged (mutated) in many tumours. These genes are also found to be damaged in some other cancer types. We don’t know why these genes get damaged but we do know that the damage is not inherited.
  • #1 Chondrosarcoma – NCI
    https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-bone-tumors/chondrosarcoma
    The genetic condition multiple osteochondroma, which can run in families, can lead to CS in about 15% of cases. […] We know that in some cases of CS, chromosomes (the structures in your cells that contain all of your genes) break apart and get put back together in the wrong way. This can cause cells to not function like they should. In some cases of CS, a gene called EWSR1 joins with a gene called NRA3. In some cases of CS, there are changes in the genes IDH1/2 and/or COL2A1.
  • #2 Chondrosarcoma: Symptoms, Causes & Treatment
    https://my.clevelandclinic.org/health/diseases/22112-chondrosarcoma
    Chondrosarcoma is a type of rare bone cancer that typically develops in cartilage the flexible connective tissue that protects your joints and bones. […] Researchers dont know the exact cause but link the condition to genetic disorders, including: […] Li Fraumeni syndrome: People with this condition are likely to develop cancerous tumors, including chondrosarcomas. […] Maffucci syndrome and Olliers disease: These disorders cause benign tumors in your cartilage, bone and skin. […] Hereditary multiple osteochondromas: These are multiple benign bone tumors that can disrupt your bone growth. […] In some cases, pathologists who study genetic changes in chondrosarcoma think a chromosomal change or certain genetic mutations that arent part of an inherited disorder may change cartilage cells.
  • #2 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    There has been a lot of research into possible causes of chondrosarcoma but the underlying cause remains unknown in most cases. […] It is known that cells contain important information in their chromosomes called genes, which help them to divide and grow normally. Damage to these genes in one single cell can cause the cell to behave differently and grow abnormally, which can then lead to development of cancer. In chondrosarcoma, there is damage to the cell’s genetic information such as abnormalities of genes (mutations) called tumour suppressor genes and oncogenes as well as genes which control the copying of the cell’s DNA. We do not know why the damage occurs in most cases. […] Some recent research has identified a pair of genes that are frequently damaged in chondrosarcoma tumours. Researchers looked in cells from many different chondrosarcoma tumours and found that two genes, called IDH1 and IDH2, were damaged (mutated) in many tumours. These genes are also found to be damaged in some other cancer types. We don’t know why these genes get damaged but we do know that the damage is not inherited.
  • #2 Chondrosarcoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK538132/
    The majority of chondrosarcomas are sporadic, but they may develop from the malignant transformation of osteochondromas and enchondromas. Malignant transformation occurs in 5% of osteochondromas either multiple or solitary forms. […] Chondrosarcoma is a tumor of adulthood and older age. The majority of patients are older than 50 years of age at diagnosis, with a slight male predominance. […] Chromosomal anomalies detected in some types of chondrosarcomas include 9p21, 10, 13q14, and 17p13. Chromosomal structural abnormalities and genetic instability are reported in well-differentiated chondrosarcomas analyzed by cytogenetics. Moreover, the amplification of MYC and AP-1 transcription factors plays a vital role in the pathogenesis of chondrosarcoma. […] The rate of metastasis varies according to the grade of chondrosarcoma.
  • #2 Chondrosarcoma | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/chondrosarcoma-1.html
    Ollier disease. The cause of this rare disease is not known, and it isn’t inherited. It causes clusters of enchondromas that often affect the hands and feet. It can cause severe bone deformities. About 1 out of 3 people with Ollier disease develop chondrosarcoma. […] Maffucci syndrome. This very rare disease is not inherited. It causes many enchondromas that usually affect the hands and feet and benign tumors made up of blood vessels (angiomas). It increases the risk of chondrosarcoma and other kinds of cancer. […] Li-Fraumeni syndrome. This is an inherited disease that’s linked to a higher risk of many types of cancer, including chondrosarcoma.
  • #2 Risk Factors for Bone Cancer | American Cancer Society
    https://www.cancer.org/cancer/types/bone-cancer/causes-risks-prevention/risk-factors.html
    Older age: Most chondrosarcomas occur in older adults, although they can develop in younger people as well. […] Benign bone tumors: Having certain types of benign (non-cancerous) bone tumors can increase a person’s risk of chondrosarcoma. […] For example, an enchondroma is a benign cartilage tumor that can develop in the middle of a bone. These tumors rarely transform into chondrosarcomas, but people with many of these tumors (a condition called multiple enchondromatosis) have an increased risk of chondrosarcoma. Sometimes this condition is linked with inherited changes in the IDH1 or IDH2 genes. […] Multiple exostoses (also known as multiple osteochondromas) is an inherited condition in which a person has many benign bone tumors called osteochondromas, which are made mostly of cartilage. These tumors can sometimes be painful and can lead to deformed or fractured bones. Each tumor also has a small chance of transforming into a chondrosarcoma. This disorder is most often caused by inherited changes (mutations) in either the EXT1 or EXT2 gene.
  • #2 Chondrosarcoma: A Clinical Review
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10095313/
    Chondrosarcomas are a rare malignant bone tumor arising from cartilage-producing cells. […] Recent literature has suggested that rates of chondrosarcoma are increasing and chondrosarcoma is now considered the most common primary bone malignancy in several countries due to the increase in ACTs diagnosed incidentally. […] The risk of malignant transformation of an osteochondroma to a secondary chondrosarcoma is approximately 1% for solitary lesions and 5% for multiple lesions, although this is likely a gross overestimate due to the unknown number of humans with undetected osteochondromas. […] In patients with Olliers Disease or Maffucci Syndrome, the risk of malignant transformation of an enchondroma is markedly elevated at 10-40%. […] Interestingly, mutations in the IDH1 and IDH2 genes are found in 50-70% of chondrosarcomas and are implicated in chondrosarcoma tumorigenesis. […] The mechanism of metastasis in chondrosarcoma is not fully understood but it is believed to involve several factors, including the size and location of the primary tumor, the presence of dedifferentiated components, and the invasiveness of the tumor.
  • #2 Chondrosarcoma – symptoms, causes, diagnosis and treatment
    https://medtour.help/disease/what-is-chondrosarcoma-and-why-is-it-dangerous/
    It is accompanied by the growth of multiple cartilaginous tumors. The disease usually appears before the age of 10 years. The risk of developing chondrosarcoma in patients with Ollier disease is 20-25%. […] It is characterized by the appearance of multiple cartilaginous tumors, hemangiomas and disruption of bone structure. The probability of developing chondrosarcoma in Maffucci syndrome is 25-30%. […] Many patients with Ollier disease and Maffucci syndrome have mutations in the IDH1 or IDH2 genes. Recently, scientists are considering these mutations as targets for targeted therapy for chondrosarcoma.
  • #2
    https://www.orthobullets.com/pathology/8023/chondrosarcoma
    Chondrosarcoma is the second most common malignant primary bone tumor. These cancers are composed of malignant chondrocytes. There are various subtypes of chondrosarcoma, each with unique characteristics. „Conventional” chondrosarcoma accounts for 90% of chondrosarcomas and typically presents in adults over 40 with progressive pain. […] Majority of chondrosarcomas are sporadic (primary chondrosarcomas), but they may develop from the malignant transformation of osteochondromas or enchondromas (secondary chondrosarcomas). […] Mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) identified in primary and secondary conventional chondrosarcomas and enchondromas. […] Osteochondromas account for the majority (80%) of secondary chondrosarcomas. […] Solitary osteochondromas have 1% risk of malignant transformation. […] Multiple hereditary exostosis (5-10% risk of malignant transformation). […] Enchondromas (1% to 9% risk of malignant transformation). […] Ollier’s disease (25-30% risk of malignant transformation). […] Maffucci’s (50% risk of malignant transformation).
  • #2 Chondrosarcoma: Symptoms, Causes, Treatment, and Outlook
    https://www.healthline.com/health/cancer/chondrosarcoma
    Chondrosarcoma is a group of bone cancers that start in the cartilage. […] Its not known exactly why chondrosarcoma develops, but its thought that genetic factors may play a role. Certain atypical genetic characteristics have been detected in the DNA of some chondrosarcomas on chromosomes 9, 10, 13, and 17. […] Risk factors for developing chondrosarcoma include: Older age. Most people with chondrosarcoma are over the age of 50 when they receive a diagnosis. […] Benign bone tumors. Noncancerous bone tumors called enchondromas and osteochondromas can sometimes turn into chondrosarcoma. […] Multiple exostosis. Multiple exostosis is a genetic condition that causes many noncancerous osteochondromas. Its often caused by mutations in the genes EXT1 or EXT2.
  • #2 Chondrosarcoma: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1258236-overview
    Chondrosarcomas may be divided into primary and secondary lesions on the basis of their origins. Primary chondrosarcomas arise de novo, whereas secondary chondrosarcomas arise from preexisting lesions of the cartilage. […] In addition, the genes responsible for the lesions depend on the primary benign cartilaginous condition. Secondary chondrosarcomas occur in individuals with Ollier disease, Maffucci syndrome, multiple hereditary exostosis (diaphyseal aclasis), solitary osteochondroma, solitary enchondroma, solitary periosteal enchondroma, Paget disease, or radiation injury. […] Amplification of the c-myc proto-oncogene and fos/jun has been implicated in the pathogenesis of chondrosarcoma. […] Numerous genetic alterations have been found for dedifferentiated chondrosarcomas, but a shared loss of chromosome 13 suggests that the differentiated and dedifferentiated components originate from a common precursor. […] Isocitrate dehydrogenase 1 and 2 (IDH1, 2) mutations have been identified in chondrosarcomas.
  • #2 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    A small proportion of patients are known to have inherited damaged genes from their parents. This is known as a genetic predisposition, which means they have an increased risk of developing different types of cancer, including chondrosarcoma. […] Although doctors do not yet fully understand what causes chondrosarcoma, there are several factors that put people at a higher risk. A risk factor is something that can increase the chance of getting an illness. […] Gender: Males have a slightly higher risk compared to females. […] Age: Most chondrosarcomas develop in people over the age of 40. […] Underlying bone diseases: Bones which already have something wrong with them (underlying bone abnormalities) are at a higher risk of getting chondrosarcoma. […] Paget’s Disease is a disease that makes bones painful and encourages bone cells to divide more rapidly.
  • #2 Chondrosarcoma: Symptoms, Causes, Diagnosis, Treatment
    https://www.webmd.com/cancer/what-is-chondrosarcoma
    It’s most common in adults over age 40, but doctors usually don’t know what causes it. Typically, it starts in normal cartilage, but it can also grow out of certain bone conditions. […] If you’ve ever had high doses of radiation for cancer treatment, that can raise your odds, too.
  • #2 Chondrosarcoma – NCI
    https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-bone-tumors/chondrosarcoma
    The genetic condition multiple osteochondroma, which can run in families, can lead to CS in about 15% of cases. […] We know that in some cases of CS, chromosomes (the structures in your cells that contain all of your genes) break apart and get put back together in the wrong way. This can cause cells to not function like they should. In some cases of CS, a gene called EWSR1 joins with a gene called NRA3. In some cases of CS, there are changes in the genes IDH1/2 and/or COL2A1.
  • #2 Central Chondrosarcoma, Grades 2 and 3 – SFA
    https://curesarcoma.org/sarcoma-subtypes/central-chondrosarcoma-grades-2-and-3/
    Patients with enchondromatosis, carrying a somatic mosaic mutation in IDH1 or IDH2, are at increased risk of progression towards chondrosarcoma, depending on the localization of the tumors. […] About half of these tumors carry IDH1 or IDH2 mutations, suggesting that they have progressed from enchondroma and ACT/CS1.
  • #2 Chondrosarcoma | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/chondrosarcoma?lang=us
    Chondrosarcomas are a heterogeneous group of malignant cartilaginous tumors most commonly found in older patients. They can arise de novo or secondary to an existing benign cartilaginous neoplasm. […] Some chondrosarcomas originate from precursor lesions, namely osteochondromas or enchondromas, and are associated with solitary osteochondromas and hereditary multiple exostoses, Ollier disease, and Maffucci syndrome. […] Chondrosarcomas are aggressive cartilage matrix-forming tumors and are either primary, arising de novo, or secondary originating from a pre-existent cartilaginous mass.
  • #2 Chondrosarcoma – symptoms, causes, diagnosis and treatment
    https://medtour.help/disease/what-is-chondrosarcoma-and-why-is-it-dangerous/
    Most chondrosarcomas develop sporadically, that is, accidentally. However, some tumors arise as a result of malignant transformation of osteochondromas and endochordomas. About 5% of osteochondromas, both multiple and single forms, turn into chondrosarcoma. […] The reasons for the development of the disease are not completely clear, but scientists have identified factors that increase the risk of its occurrence. These include: […] In men, chondrosarcoma is diagnosed somewhat more often than in women. […] In most cases, malignant tumors of cartilage tissue develop in people over 40 years of age. […] The risk of developing chondrosarcoma increases if patients have previously undergone chemotherapy or radiation therapy. […] In addition, risk factors include rare bone diseases: […] A chronic skeletal disease characterized by abnormally rapid division of bone cells.
  • #2 Chondrosarcoma: Symptoms, causes, treatments, and more
    https://www.medicalnewstoday.com/articles/chondrosarcoma
    Chondrosarcoma develops in the cells of cartilage. It can develop at any age but typically affects people over the age of 40 years. […] There is not one exact cause of chondrosarcoma, and the development of these tumors can be unpredictable. […] Chromosomes are structures in the cells that contain DNA. Sometimes, chromosomes in the body break apart and reform incorrectly. This can cause the cells to malfunction, and it may lead to chondrosarcoma. […] It can also develop when benign tumors in the cartilage, such as osteochondroma and enchondroma, turn into malignant, or cancerous, tumors.
  • #2 Chondrosarcoma | Tampa General Hospital
    https://www.tgh.org/institutes-and-services/conditions/chondrosarcoma
    The exact causes of chondrosarcoma are unknown. Through extensive research, scientists have determined that the cancer begins when healthy cartilage cells undergo harmful changes that damage their DNA. […] Damaged DNA can provide garbled instructions that lead to uncontrolled cell growth. The abnormal cells then amass and form tumors. If left untreated, the cancerous cells can invade the surrounding healthy tissues and enter the bloodstream or lymphatic system, where they can circulate throughout the body and spread to distant organs and tissues.
  • #3 Chondrosarcoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK538132/
    The majority of chondrosarcomas are sporadic, but they may develop from the malignant transformation of osteochondromas and enchondromas. Malignant transformation occurs in 5% of osteochondromas either multiple or solitary forms. […] Chondrosarcoma is a tumor of adulthood and older age. The majority of patients are older than 50 years of age at diagnosis, with a slight male predominance. […] Chromosomal anomalies detected in some types of chondrosarcomas include 9p21, 10, 13q14, and 17p13. Chromosomal structural abnormalities and genetic instability are reported in well-differentiated chondrosarcomas analyzed by cytogenetics. Moreover, the amplification of MYC and AP-1 transcription factors plays a vital role in the pathogenesis of chondrosarcoma. […] The rate of metastasis varies according to the grade of chondrosarcoma.
  • #3 Chondrosarcoma: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1258236-overview
    Chondrosarcomas may be divided into primary and secondary lesions on the basis of their origins. Primary chondrosarcomas arise de novo, whereas secondary chondrosarcomas arise from preexisting lesions of the cartilage. […] In addition, the genes responsible for the lesions depend on the primary benign cartilaginous condition. Secondary chondrosarcomas occur in individuals with Ollier disease, Maffucci syndrome, multiple hereditary exostosis (diaphyseal aclasis), solitary osteochondroma, solitary enchondroma, solitary periosteal enchondroma, Paget disease, or radiation injury. […] Amplification of the c-myc proto-oncogene and fos/jun has been implicated in the pathogenesis of chondrosarcoma. […] Numerous genetic alterations have been found for dedifferentiated chondrosarcomas, but a shared loss of chromosome 13 suggests that the differentiated and dedifferentiated components originate from a common precursor. […] Isocitrate dehydrogenase 1 and 2 (IDH1, 2) mutations have been identified in chondrosarcomas.
  • #3 Chondrosarcoma Causes, Symptoms, and Treatments
    https://www.upmc.com/services/orthopaedics/conditions/chondrosarcoma
    Chondrosarcoma is a rare bone tumor, and doctors aren’t sure what causes it. The tumors may be linked to certain genetic changes in your chromosomes. There are no environmental or lifestyle factors that cause chondrosarcoma. […] You may be at greater risk for developing chondrosarcoma if you already have an underlying bone disease or abnormality. The following conditions are risk factors for chondrosarcoma: Maffucci syndrome, Multiple hereditary exostoses, Ollier’s disease, and Paget’s disease. […] Complications of chondrosarcoma include increasing pain or a growing lump where the tumor is. You may have a hard time moving the affected limb. Conventional chondrosarcomas grow slowly, but some aggressive forms can metastasize (spread) into other organs of the body.
  • #3 Chondrosarcoma
    https://healthlibrary.uwmedicine.org/HeartHealth/85,P00113
    Chondrosarcoma is a type of bone cancer that starts in cartilage cells. The exact cause of chondrosarcoma is not known. There may be a genetic change that makes some people more likely to have this cancer. […] Most often, chondrosarcoma starts in normal cartilage cells. It may also start in a noncancer (benign) bone or cartilage tumor. Here are some of the benign conditions that may be present when chondrosarcoma happens: Enchondroma. This is a type of benign bone tumor that starts in cartilage and often affects the hands. The cause is unknown. Multiple hereditary exostoses (MHE). This is a syndrome passed in families (inherited). It causes many osteochondromas. These are overgrowths of cartilage and bone near the end of the growth plate of long bones in the arms or legs. These bone defects can develop into chondrosarcoma. Ollier disease. The cause of this rare disease is not known, and it isn’t inherited. It causes clusters of enchondromas that often affect the hands and feet. It can cause severe bone deformities. About 1 out of 3 people with Ollier disease develop chondrosarcoma. Maffucci syndrome. This very rare disease is not inherited. It causes many enchondromas that usually affect the hands and feet and benign tumors made up of blood vessels (angiomas). It increases the risk of chondrosarcoma and other kinds of cancer. Li-Fraumeni syndrome. This is an inherited disease that’s linked to a higher risk of many types of cancer, including chondrosarcoma.
  • #3 Chondrosarcoma – symptoms, causes, diagnosis and treatment
    https://medtour.help/disease/what-is-chondrosarcoma-and-why-is-it-dangerous/
    It is accompanied by the growth of multiple cartilaginous tumors. The disease usually appears before the age of 10 years. The risk of developing chondrosarcoma in patients with Ollier disease is 20-25%. […] It is characterized by the appearance of multiple cartilaginous tumors, hemangiomas and disruption of bone structure. The probability of developing chondrosarcoma in Maffucci syndrome is 25-30%. […] Many patients with Ollier disease and Maffucci syndrome have mutations in the IDH1 or IDH2 genes. Recently, scientists are considering these mutations as targets for targeted therapy for chondrosarcoma.
  • #3
    https://www.orthobullets.com/pathology/8023/chondrosarcoma
    Chondrosarcoma is the second most common malignant primary bone tumor. These cancers are composed of malignant chondrocytes. There are various subtypes of chondrosarcoma, each with unique characteristics. „Conventional” chondrosarcoma accounts for 90% of chondrosarcomas and typically presents in adults over 40 with progressive pain. […] Majority of chondrosarcomas are sporadic (primary chondrosarcomas), but they may develop from the malignant transformation of osteochondromas or enchondromas (secondary chondrosarcomas). […] Mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) identified in primary and secondary conventional chondrosarcomas and enchondromas. […] Osteochondromas account for the majority (80%) of secondary chondrosarcomas. […] Solitary osteochondromas have 1% risk of malignant transformation. […] Multiple hereditary exostosis (5-10% risk of malignant transformation). […] Enchondromas (1% to 9% risk of malignant transformation). […] Ollier’s disease (25-30% risk of malignant transformation). […] Maffucci’s (50% risk of malignant transformation).
  • #3 Chondrosarcoma – Symptoms, Types, Causes & Diagnosis
    https://www.ganeshdiagnostic.com/blog/chondrosarcoma-cancer-symptoms-types-causes-and-diagnosis
    When cells mutate and multiply uncontrollably, develop cancer. […] Bone malignancies like chondrosarcoma are currently under investigation for their origins. The hereditary disease Li-Fraumeni syndrome has been connected to chondrosarcoma. […] Chondrosarcoma risk is higher for people with specific medical problems such as: Maffucci Syndrome( Benign tumor): Hemangiomas, which are knots and befuddlements of surprisingly big blood vessels, are also possible in the form of purplish skin growths in these people. […] The illness Ollier’s: These individuals have several benign tumors on their bones, similar to Maffucci syndrome. […] Exostoses Multiplex Heredita (osteochondromatoses): Your bone growth may be hampered by any of these benign bone cancers.
  • #3 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    A small proportion of patients are known to have inherited damaged genes from their parents. This is known as a genetic predisposition, which means they have an increased risk of developing different types of cancer, including chondrosarcoma. […] Although doctors do not yet fully understand what causes chondrosarcoma, there are several factors that put people at a higher risk. A risk factor is something that can increase the chance of getting an illness. […] Gender: Males have a slightly higher risk compared to females. […] Age: Most chondrosarcomas develop in people over the age of 40. […] Underlying bone diseases: Bones which already have something wrong with them (underlying bone abnormalities) are at a higher risk of getting chondrosarcoma. […] Paget’s Disease is a disease that makes bones painful and encourages bone cells to divide more rapidly.
  • #3 Chondrosarcoma – symptoms, causes, diagnosis and treatment
    https://medtour.help/disease/what-is-chondrosarcoma-and-why-is-it-dangerous/
    Most chondrosarcomas develop sporadically, that is, accidentally. However, some tumors arise as a result of malignant transformation of osteochondromas and endochordomas. About 5% of osteochondromas, both multiple and single forms, turn into chondrosarcoma. […] The reasons for the development of the disease are not completely clear, but scientists have identified factors that increase the risk of its occurrence. These include: […] In men, chondrosarcoma is diagnosed somewhat more often than in women. […] In most cases, malignant tumors of cartilage tissue develop in people over 40 years of age. […] The risk of developing chondrosarcoma increases if patients have previously undergone chemotherapy or radiation therapy. […] In addition, risk factors include rare bone diseases: […] A chronic skeletal disease characterized by abnormally rapid division of bone cells.
  • #3 Chondrosarcoma | Bone Cancer Research Trust
    https://www.bcrt.org.uk/information/information-by-type/chondrosarcoma/
    Ollier’s Disease is a condition in which benign tumours in the bones cause the affected bones to swell. The condition usually presents before the age of 10. Patients with Ollier’s Disease have around a 20-25% chance of developing chondrosarcoma. Many Ollier’s Disease patients have mutations in IDH1 or IDH2 genes. […] Maffucci Syndrome is a rare disorder that gives people with this condition a 20-25% risk of developing chondrosarcoma. Many Maffucci Syndrome patients have mutations in IDH1 or IDH2 genes. […] Treatment by radiation or chemotherapy for a pre-existing condition: People who have received radiotherapy for cancer before have a slightly higher chance of developing chondrosarcoma.
  • #3 Chondrosarcoma Cancer – Symptoms, Causes, & Types | Max Hospital
    https://www.maxhealthcare.in/blogs/chondrosarcoma-cancer-symptoms
    Previous traumatic injuries to the bone, particularly those involving cartilage, may increase the risk of chondrosarcoma development in some cases. […] Some studies suggest that exposure to certain chemicals, such as vinyl chloride and arsenic, may be associated with an increased risk of developing chondrosarcoma, although the evidence is limited. […] While these risk factors may increase the likelihood of developing chondrosarcoma, most cases occur sporadically without a clear identifiable cause.
  • #3 Chondrosarcoma Causes | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD
    https://www.aaroncohen-gadol.com/en/patients/chondrosarcoma/types/causes
    In some families, there may be a pattern of multiple members being diagnosed with a chondrosarcoma or other bone tumors. This suggests the presence of a genetic component to the condition. Some genes that have been known to place certain people at a higher risk of developing chondrosarcomas include EXT1, EXT2, IDH1, IDH2, and INK4A. Ollier disease, Mafucci syndrome, and multiple hereditary exostosis are also genetic conditions that increase the risk of developing a chondrosarcoma. […] Risk factors associated with developing a chondrosarcoma include age, family history, exposure to ionizing radiation, and some genetic conditions.
  • #3 CHONDROSARCOMA – Longhorn Brain and Spine
    https://longhornbrainandspine.com/chondrosarcoma/
    Primarily originating from cartilage cells within the bones, Chondrosarcoma is a rare and potentially aggressive form of bone cancer. […] The exact causes of the bone cancer remain largely unknown. However, some potential risk factors have been identified: […] In a small number of cases, chondrosarcoma links to genetic conditions such as multiple hereditary exostoses (MHE) and Olliers disease. […] Certain bone diseases, such as enchondromatosis, may increase the risk of chondrosarcoma. […] Ongoing research into chondrosarcomas genetic and molecular factors is driving the development of targeted therapies and more effective treatment options.
  • #4 Chondrosarcoma: A Clinical Review
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10095313/
    Chondrosarcomas are a rare malignant bone tumor arising from cartilage-producing cells. […] Recent literature has suggested that rates of chondrosarcoma are increasing and chondrosarcoma is now considered the most common primary bone malignancy in several countries due to the increase in ACTs diagnosed incidentally. […] The risk of malignant transformation of an osteochondroma to a secondary chondrosarcoma is approximately 1% for solitary lesions and 5% for multiple lesions, although this is likely a gross overestimate due to the unknown number of humans with undetected osteochondromas. […] In patients with Olliers Disease or Maffucci Syndrome, the risk of malignant transformation of an enchondroma is markedly elevated at 10-40%. […] Interestingly, mutations in the IDH1 and IDH2 genes are found in 50-70% of chondrosarcomas and are implicated in chondrosarcoma tumorigenesis. […] The mechanism of metastasis in chondrosarcoma is not fully understood but it is believed to involve several factors, including the size and location of the primary tumor, the presence of dedifferentiated components, and the invasiveness of the tumor.