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• #1 Medulloblastoma (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/medulloblastoma.html

  Medulloblastoma is the most common cancerous (malignant) type of brain tumor. […] Doctors don’t know what causes medulloblastoma (meh-dull-oh-blas-TOE-muh). But some genetic conditions can make kids more likely to develop it. About 20% of all brain tumors in children are medulloblastomas. […] New information about genetic changes in medulloblastoma tumors has led to many new treatments that specifically target these changes. They are being used with increasing success in children with brain tumors.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Sonic-Hedgehog-Medulloblastoma-Causes.aspx

  A medulloblastoma is an embryonal tumor which is most common in very young children (below 4 years) and adults above 16 years. […] It is not clear what exactly causes the emergence of a medulloblastoma. These are mostly sporadic, rather than inherited, and occur during fetal development. […] In a medulloblastoma, mutations may occur on the long arm of chromosome 17, in one-third to one-half of cases, which converts it into an isochromosome. The mutation may lead to the loss or inactivation of the coded information on that gene. […] This anomaly may lead to the loss of normal tumor suppressor gene activity which may promote malignant transformation of certain cells. […] The loss of tumor suppressor gene activity may cause immature cells to remain as such without entering the normal pathway of differentiation and eventual arrest of proliferation.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Sonic-Hedgehog-Medulloblastoma-Causes.aspx

  Certain pathways of molecular signaling that control cell growth are disrupted by such alterations. […] Other chromosomal abnormalities in medulloblastoma patients include chromosomes I, 7, 8, 9, 10q, 11 and 16. In a tenth of all cases, it is associated with genetic syndromes and chromosomal anomalies or mutations in germline genes. […] Other risk factors include age: most SHH medulloblastomas occur before the age of 4 and after the age of 16 years.

• #1 Medulloblastoma – Wikipedia

  https://en.wikipedia.org/wiki/Medulloblastoma

  Medulloblastomas are usually found in the vicinity of the fourth ventricle, between the brainstem and the cerebellum. […] Although medulloblastomas are thought to originate from immature or embryonal cells at their earliest stage of development, the cell of origin depends on the subgroup of medulloblastoma. WNT tumors originate from the lower rhombic lip of the brainstem, while SHH tumors originate from the external granular layer. […] Currently, medulloblastomas are thought to arise from cerebellar stem cells that have been prevented from dividing and differentiating into their normal cell types. […] Both perivascular pseudorosette and Homer Wright pseudorosette formations are highly characteristic of medulloblastomas and are seen in up to half of cases. […] In the past, medulloblastoma was classified using histology, but integrated genomic studies have revealed that medulloblastoma is composed of four distinct molecular and clinical variants termed WNT/-catenin, Sonic Hedgehog, Group 3, and Group 4.

• #1 Medulloblastoma – Wikipedia

  https://en.wikipedia.org/wiki/Medulloblastoma

  Of these subgroups, WNT patients have an excellent prognosis and group 3 patients have a poor prognosis. […] Also, a subgroup-specific alternative splicing further confirms the existence of distinct subgroups and highlights the transcriptional heterogeneity between subgroups. […] Amplification of the Sonic Hedgehog pathway is the best characterized subgroup, with 25% of human tumors having mutations in Patched, Sufu (Suppressor of Fused Homolog), Smoothened, or other genes in this pathway. […] Medulloblastomas are also seen in Gorlin syndrome as well as Turcot syndrome. […] Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1 were identified in individuals with medulloblastoma. […] Additional pathways disrupted in some medulloblastomas include MYC, Notch, BMP, and TGF- signaling pathways.

• #1 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

  https://www.cancer.gov/types/brain/hp/child-cns-embryonal-treatment-pdq

  Increasingly, subsets of children with brain tumors, including medulloblastoma, have been found to have germline pathogenic or likely pathogenic variants, predisposing them to the development of medulloblastoma and other cancers. These variants have obvious implications for the affected child, siblings, parents, and, potentially, other family members in regard to cancer surveillance, prevention, diagnosis, and management. The variants may also affect specific tumor treatment. […] Medulloblastoma can arise in the setting of hereditary cancer predisposition syndromes in approximately 5% of patients. A large study of over 1,000 patients demonstrated germline pathogenic variants in approximately 5% of all patients diagnosed with medulloblastoma. Germline pathogenic variants were identified in APC, BRCA2, PALB2, PTCH1, SUFU, and TP53.

• #1 Medulloblastoma: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22591-medulloblastoma

  Medulloblastoma causes […] Researchers dont know exactly why medulloblastoma happens. But there are certain genetic disorders that could increase your or your childs risk for developing the condition, including: […] BRCA1 gene mutations. BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2) make proteins to help repair damaged DNA. People who inherit certain variants of these genes have increased risks for many types of cancer. […] Nevoid basal cell carcinoma syndrome (NBCCS). Also called Gorlin syndrome, this hereditary condition often occurs alongside basal cell skin cancers. People with NBCCS have about a 5% chance of developing medulloblastoma. […] Turcot syndrome. People with Turcot syndrome have colon cancer along with a tumor in their central nervous system, such as a medulloblastoma or pituitary adenoma. […] Li-Fraumeni syndrome. People with Li-Fraumeni syndrome have an increased risk of sarcomas, breast cancer, other types of brain cancer (like gliomas and choroid plexus carcinomas), adrenal cancer and leukemia.

• #1 Causes of Medulloblastoma | medulloblastoma.org

  https://medulloblastoma.org/medullo-facts/causes-of-medulloblastoma/

  Experts dont yet know what causes medulloblastoma. It starts when changes to genes occur that affect how cells function. But why those genetic changes occur is not known. […] A very small number of cases might be related to a genetic trait that can be passed down in a family. However, the vast majority of medulloblastoma cases are what is called sporadic, which means the cause is unknown. […] Nothing has been found to date that ties medulloblastoma to a certain geographic region or to environmental exposure. […] The tumor begins when there is an uncontrolled growth of these types of cells in the brain. But why this growth occurs is unknown. […] The following conditions are associated with medulloblastoma. People with these conditions have a higher risk of developing medulloblastoma: Gorlin syndrome, Fanconi anemia, Turcot syndrome, Li-Fraumeni syndrome.

• #1 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

  https://www.cancer.gov/types/brain/hp/child-cns-embryonal-treatment-pdq

  Syndromes known to be associated with medulloblastoma include the following: Turcot syndrome (related to germline pathogenic variants in APC), exclusive to the WNT-activated subtype. […] The risk of developing medulloblastoma in patients with Gorlin syndrome appears to be higher in those with germline SUFU variants than in those with PTCH1 pathogenic variants. […] Li-Fraumeni syndrome is related to germline pathogenic variants in TP53. […] Heterozygous deleterious germline pathogenic variants in GPR161 were identified in approximately 3% of cases of SHH medulloblastoma. […] Novel germline loss-of-function pathogenic variants in the largest subunit of the evolutionarily conserved Elongator complex, ELP1, were identified in 14% of pediatric patients with SHH medulloblastoma. ELP1 was the most common medulloblastoma predisposition gene, and it increased the prevalence of genetic predisposition to 40% among pediatric patients with SHH medulloblastoma. […] Given the high frequency of underlying germline pathogenic or likely pathogenic variants associated with SHH medulloblastoma, all patients with this disease should be referred for genetic counseling.

• #1 Medulloblastoma – Brief Information

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/brain_tumours/pohpatinfomedullo120080109/brief_information_medulloblastoma/index_eng.html

  Medulloblastoma is caused by a malignant transformation of nerve tissue cells. The reasons for tumour development have not been completely found out yet. It is known so far, that children and adolescents with certain inherited diseases (such as Gorlin-Goltz syndrome, Li-Fraumeni syndrome, or Fanconi anaemia) have a higher risk of developing a medulloblastoma than their healthy peers. Since these genetic conditions are associated with an elevated risk for tumour development, they are also known as cancer predisposition syndromes. […] In addition, it has been shown that medulloblastoma are frequently associated with certain chromosomal aberrations within cells. The resulting impairments of cell development and cell communication may be contributing factors promoting the transformation of a healthy into a cancer cell. Also, radiotherapy of the brain, for example as received by patients with certain forms of leukaemia or with eye cancer (retinoblastoma), may lead to an increased risk of developing a CNS tumour later in life.

• #1 Medulloblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK431069/

  There is no clear etiology to medulloblastoma. Some studies have found a link between maternal diet and blood/immune disorders during pregnancy. […] Others report an association with viral infections, for example, early John Cunningham (JC) viral infections or human cytomegalovirus (CMV) infections in childhood. […] Medulloblastomas may have a familial association and are also known to be associated with Gorlin syndrome, Fanconi anemia, Turcot syndrome, and Li-Fraumeni syndrome.

• #1 Pediatric Medulloblastoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/987886-overview

  Medulloblastoma is a heterogeneous disease. Recent advances in understanding the molecular characteristics of medulloblastoma cells allowed for sub-typing based on abnormalities seen at the molecular level. These subgroups are defined by their unique clinical behavior and outcomes. […] Epidemiological studies investigating parental occupational exposures, environmental exposures, and maternal nutritional intake have not proven a direct link between such factors and the development of childhood brain tumors. […] A case-control study conducted in the United Kingdom found that maternal anemia during pregnancy is associated with an increased risk of childhood embryonal tumors, including medulloblastoma (odds ratio, 2.36; 95% CI, 1.36-4.11). […] In one study, 5 of 37 (13.5%) patients with medulloblastoma were found to have germline mutations in one of the known cancer predisposing genes.

• #1 Medulloblastoma Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/1181219-clinical

  The majority of medulloblastomas occur as sporadic cases, yet hereditary conditions have been associated with medulloblastoma, including (1) Gorlin syndrome (nevoid basal-cell carcinoma syndrome), (2) blue rubber-bleb nevus syndrome, (3) Turcot syndrome (i.e., glioma polyposis syndrome), and (4) Rubinstein-Taybi syndrome. […] Debate exists over the cellular origin of medulloblastoma. […] One hypothesis is that medulloblastoma arises from primitive multipotent cells of the external granular layer of the cerebellar velum. This is an area of germ cell origin that persists for the first year of life before involuting. […] The second hypothesis is that medulloblastoma arises from multipotent cells in the subependymal-subventricular region and fetal pineal region.

• #1 Medulloblastoma: From Molecular Pathology to Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3222918/

  Medulloblastoma is a heterogeneous cancer of unknown etiology. An important contribution to the understanding of medulloblastoma came from the study of the Gorlins syndrome and the Turcots syndrome, two genetic disorders which show an unusual predisposition to medulloblastoma formation. […] Gorlins syndrome, or basal cell nevus syndrome, is a rare autosomal dominant disorder associated with skeletal anomalies, large body size, and a high incidence of basal cell carcinoma and medulloblastoma. It is characterized by germ line mutations of the PTCH gene, which encodes for a transmembrane protein capable of binding the Hedgehog (HH) family of signaling proteins. How changes in PTCH and other pathway components predispose to medulloblastoma is currently under investigation. […] Turcots syndrome (glioma-colonic polyposis syndrome) is a rare heritable disorder, associated with colon cancer and malignant neuroepithelial brain tumor, usually glioblastoma multiforme or medulloblastoma. Mutations of the adenomatous polyposis coli (APC) gene have been linked to this syndrome.

• #1 Medulloblastoma: Subtypes, symptoms, treatment, and more

  https://www.medicalnewstoday.com/articles/medulloblastoma

  Medulloblastoma is a type of brain cancer that predominantly affects children. It comprises about 1 in 5 of all pediatric brain tumors, making it the most common cancerous brain tumor in this age group. […] The causes of medulloblastoma are not entirely clear. […] However, many cases involve gene mutations that affect brain development and function. Some of these genetic changes occur spontaneously. Others are part of inherited syndromes that predispose people to cancer. […] For instance, mutations in the CTNNB1 gene are involved in the WNT subtype of medulloblastoma. These changes affect the beta-catenin protein, which is crucial for cell growth and division. […] Alterations in other genes, such as PTCH1, can lead to conditions such as Gorlin syndrome, which increases the risk of developing medulloblastoma.

• #1

  https://braintumourresearch.org/pages/types-of-brain-tumours-medulloblastoma?srsltid=AfmBOoqGVj-7WGV8xBRwX7HCuOu3Zv1-H_pLAId-iOg8QrmOoRl-Rjuh

  There is also a cell signalling pathway controlled by a protein called NOTCH1 that scientists believe is influencing the aggressive nature of these Group 3 tumours. […] The largest subtype, Group 4 medulloblastoma accounts for up to 30% of patients diagnosed with this tumour type. However, the molecular make-up of these tumours is the least well understood.

• #1 Medulloblastoma: From Molecular Pathology to Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3222918/

  Despite the fact that many medulloblastomas show identical histologic features, they respond differently to surgery, radiation, and chemotherapy. These differential responses may be ascribed to the involvement of other molecular pathways leading to a growth deregulation and to the promotion of invasion and metastasis. […] Several lines of evidence suggest an association between the occurrence of medulloblastoma and the human neurotropic polyomavirus JC (JCV). […] The oncogenic properties of JCV T antigen result, at least in part, from its ability to bind and inactivate tumor suppressor and cell cycle regulatory proteins, such as p53 and the pRb family of proteins. […] The pRb family is a group of nuclear proteins including pRb/p105, p107, and pRb2/p130. These proteins are the major regulators of cell proliferation and cell differentiation through their ability to suppress cell cycle progression.

• #1 Medulloblastoma – Symptoms, Types, Causes & Diagnosis

  https://www.ganeshdiagnostic.com/blog/medulloblastoma-symptoms-types-causes-and-diagnosis

  In rare instances, medulloblastoma may run in families, indicating a genetic inclination for the condition. […] Medulloblastoma has also been linked to epigenetic alterations, which are changes in gene expression without corresponding changes in the underlying DNA sequence. […] According to research, medulloblastoma may occur later in life as a result of aberrant brain growth during prenatal development. […] A compromised immune system and some viral diseases, such as the cytomegalovirus (CMV), may further raise the likelihood of developing medulloblastoma. […] It’s crucial to remember that even though research has pointed to some potential explanations for medulloblastoma, the specific origin of the illness is still unclear, and several different variables may probably contribute to its occurrence.

• #1 Orphanet: Medulloblastoma

  https://www.orpha.net/en/disease/detail/616

  To date, the exact etiology of MB is still unknown but genomic data has identified multiple candidate genes that contribute to the pathogenesis of different subgroups of MB. This includes inhibitors of the sonic hedgehog pathway SUFU(10q24.32),Ptch1(9q22.32), the RNA helicase DDX3X(Xp11.3-p11.23), chromatin regulators KDM6A(Xp11.2) and N-CoR complex genes BCOR(Xp11.4), and the Parkinson’s disease genes KMT2D(12q13.12),SMARCA4(19p13.3),MYC(8q24.21),MYCN(2p24.3), and TP53 (17p13.1). […] Increased susceptibility to certain tumors (neuroblastoma), hematological malignancies (acute lymphoblastic leukemia, acute myeloid leukemia) or disorders caused by mutations in genes encoding components of the RAS signaling pathway (Noonan syndrome or neurofibromatosis-Noonan syndrome) have been reported in MB.

• #1 Medulloblastoma: From Molecular Pathology to Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3222918/

  Although there is no evidence regarding alterations of the pRb2/p130 pathway in medulloblastoma, it seems to be implicated in glioblastoma. […] Currently, many strides have been conducted in the field of medulloblastoma, and several molecular modifications have been identified, the elucidation of which might have direct effects on tumor management. In fact, a better understanding of the genetic events underlying the pathology of these tumors may contribute to the development of new more effective and less harmful clinical strategies. […] Numerous growth factor receptors have been considered molecular markers, and may be used for the stratification of tumor in clinical trials, such as TrkC, which has been associated with good prognosis, and ERBB2, platelet-derived growth factor receptor-, insulin-like growth factor receptor I which have been associated with poor prognosis. […] Inhibitors of the SHH and ERBB2 pathways represent a great promise as a first-generation molecular-targeted therapy for medulloblastoma, even if the development of these agents for routine clinical use will not be easy.

• #1 Medulloblastoma in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/medulloblastoma.html

  Medulloblastoma is a brain tumor that begins in the cerebellum. […] In most cases, the cause of medulloblastoma is unknown. But a small number are caused by gene changes that can be passed down in families. […] Certain factors can increase the risk of medulloblastoma. […] Certaingeneandchromosomechanges within the tumor cell. Experts usually do not know why these genetic changes occur. […] Some children may be at increased risk for brain tumors due to rare inherited conditions orgenetic disorders such as Gorlin syndrome, Turcot syndrome, and Li-Fraumeni syndrome. […] Features of the tumor and changes in genes or chromosomes including medulloblastoma subtype (WNT, SHH, Group 3, or Group 4) influence risk category. WNT tumors have a better prognosis. SHH and Group 4 medulloblastoma tumors are considered intermediate risk. Group 3 medulloblastoma tumors have a worse prognosis.

• #1 Medulloblastoma Causes | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/medulloblastoma/types/causes

  The exact causes of medulloblastoma remain elusive, but ongoing research continues to improve understanding. […] While researchers have made significant progress in understanding the genetic basis of medulloblastoma, there is still much to learn. […] Although there are no confirmed environmental causes, ongoing research continues to explore potential links and ways to improve medulloblastoma life expectancy through targeted therapies.

• #2 Medulloblastoma | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/medulloblastoma.html

  Medulloblastoma is a type of brain tumor that starts in the cerebellum, which controls balance and other complex motor and cognitive functions. While medulloblastoma often grows quickly and may spread to other parts of the body, it usually responds well to treatment. […] Although the cause of medulloblastoma is not known, certain things may increase the risk. […] People with cancer predisposition syndromes like Li-Fraumeni syndrome, Turcot syndrome and Nevoid basal cell carcinoma syndrome (Gorlin syndrome) are more likely to develop medulloblastoma. […] In rare cases, medulloblastoma can be passed down from one generation to the next.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Sonic-Hedgehog-Medulloblastoma-Causes.aspx

  A medulloblastoma is an embryonal tumor which is most common in very young children (below 4 years) and adults above 16 years. […] It is not clear what exactly causes the emergence of a medulloblastoma. These are mostly sporadic, rather than inherited, and occur during fetal development. […] In a medulloblastoma, mutations may occur on the long arm of chromosome 17, in one-third to one-half of cases, which converts it into an isochromosome. The mutation may lead to the loss or inactivation of the coded information on that gene. […] This anomaly may lead to the loss of normal tumor suppressor gene activity which may promote malignant transformation of certain cells. […] The loss of tumor suppressor gene activity may cause immature cells to remain as such without entering the normal pathway of differentiation and eventual arrest of proliferation.

• #2

• #2 Medulloblastoma in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/medulloblastoma.html

  Medulloblastoma is a brain tumor that begins in the cerebellum. […] In most cases, the cause of medulloblastoma is unknown. But a small number are caused by gene changes that can be passed down in families. […] Certain factors can increase the risk of medulloblastoma. […] Certaingeneandchromosomechanges within the tumor cell. Experts usually do not know why these genetic changes occur. […] Some children may be at increased risk for brain tumors due to rare inherited conditions orgenetic disorders such as Gorlin syndrome, Turcot syndrome, and Li-Fraumeni syndrome. […] Features of the tumor and changes in genes or chromosomes including medulloblastoma subtype (WNT, SHH, Group 3, or Group 4) influence risk category. WNT tumors have a better prognosis. SHH and Group 4 medulloblastoma tumors are considered intermediate risk. Group 3 medulloblastoma tumors have a worse prognosis.

• #2

  https://braintumourresearch.org/pages/types-of-brain-tumours-medulloblastoma?srsltid=AfmBOoqGVj-7WGV8xBRwX7HCuOu3Zv1-H_pLAId-iOg8QrmOoRl-Rjuh

  Medulloblastoma is the most common malignant or high-grade paediatric brain tumour. At least 75% of medulloblastomas occur in the cerebellum at the back and base of the brain. […] The causes of a medulloblastoma are not yet clear, although SHH-activated medulloblastomas can sometimes be associated with a pre-existing condition called Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome. Gorlin Syndrome can lead to various types of cancer, including basal cell carcinoma, the most common form of skin cancer. […] Sonic Hedgehog pathway activation is a commonly associated with medulloblastoma in adults (patients aged 16 years or over), as well as those occurring in children under three years old. […] This is the most aggressive form of medulloblastoma and tends to spread through the ventricles of the brain and into the spinal cord.

• #2 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

  https://www.cancer.gov/types/brain/hp/child-cns-embryonal-treatment-pdq

  Syndromes known to be associated with medulloblastoma include the following: Turcot syndrome (related to germline pathogenic variants in APC), exclusive to the WNT-activated subtype. […] The risk of developing medulloblastoma in patients with Gorlin syndrome appears to be higher in those with germline SUFU variants than in those with PTCH1 pathogenic variants. […] Li-Fraumeni syndrome is related to germline pathogenic variants in TP53. […] Heterozygous deleterious germline pathogenic variants in GPR161 were identified in approximately 3% of cases of SHH medulloblastoma. […] Novel germline loss-of-function pathogenic variants in the largest subunit of the evolutionarily conserved Elongator complex, ELP1, were identified in 14% of pediatric patients with SHH medulloblastoma. ELP1 was the most common medulloblastoma predisposition gene, and it increased the prevalence of genetic predisposition to 40% among pediatric patients with SHH medulloblastoma. […] Given the high frequency of underlying germline pathogenic or likely pathogenic variants associated with SHH medulloblastoma, all patients with this disease should be referred for genetic counseling.

• #2 Medulloblastoma – Symptoms, Diagnosis, TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/medulloblastoma/

  A medulloblastoma is a cancerous brain tumor that starts in the cerebellum, at the base of the skull. […] The exact cause of medulloblastomas isn’t fully understood. What researchers do know is that genetic mutations or abnormalities in the DNA of developing brain cells can lead to tumor formation. […] Additionally, some genetic conditions can increase the risk of developing medulloblastoma. These include: Gorlin syndrome: Also known as nevoid basal cell carcinoma syndrome, this genetic condition increases the risk of developing both cancerous and noncancerous tumors. People with Gorlin syndrome have around a five percent chance of developing a medulloblastoma. […] Turcot syndrome: This rare genetic disorder causes small growths or polyps in the intestines that lead to colorectal cancer and increases the risk of brain or spinal cord tumors, such as a medulloblastoma or pituitary adenoma.

• #2 Behind the Tumor: Medulloblastoma – Brains for the Cure

  https://brainsforthecure.org/behind-the-tumor-medulloblastoma/

  Medulloblastoma is a cancerous brain tumor that starts near the brainstem in the cerebellum. The exact cause of medulloblastoma is unknown. But there are certain genetic conditions that could increase your or your childs risk for developing the condition, including: […] BRCA1 gene mutations. BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2) produce proteins to help repair damaged DNA. People who inherit certain variants of these genes have increased risks for many different types of cancer. These individuals are also more likely to develop cancer at a younger age. […] Nevoid basal cell carcinoma syndrome (NBCCS). Also called Gorlin syndrome, this hereditary condition is characterized by several basal cell skin cancers. People with NBCCS have about a 5% chance of developing medulloblastoma. […] Turcot syndrome. This hereditary condition is described as colorectal (colon) cancer with primary brain tumors. Its caused by gene mutations. People with Turcot syndrome have colorectal cancer along with a tumor in their central nervous system, such as a medulloblastoma or pituitary adenoma.

• #2 Medulloblastoma – Symptoms, Diagnosis, TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/medulloblastoma/

  Li-Fraumeni syndrome: This genetic condition increases the risk of multiple cancers, including medulloblastomas. […] Ultimately, most cases of medulloblastoma happen in people without any known genetic cause. […] Medulloblastomas cannot be entirely prevented, as their exact cause is poorly understood. Most happen sporadically, meaning they develop without known risk factors or environmental triggers. […] However, some genetic conditions may slightly increase your risk of developing a medulloblastoma, including: Gorlin syndrome: Also known as nevoid basal cell carcinoma syndrome, this genetic condition increases the risk of developing both cancerous and noncancerous tumors. […] Turcot syndrome: This rare genetic disorder causes small growths or polyps in the intestines that lead to colorectal cancer and increases the risk of brain or spinal cord tumors, such as a medulloblastoma or pituitary adenoma. […] Li-Fraumeni syndrome: This genetic condition increases the risk of multiple cancers, including medulloblastomas.

• #2 Pediatric Medulloblastoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/987886-overview

  Syndromes known to be associated with medulloblastoma include the following: Turcot syndrome (related to germline mutations in APC), Rubinstein-Taybi syndrome (related to germline mutations in CREBBP), Gorlin syndrome (associated with germline PTCH1 and SUFU mutations), Li-Fraumeni syndrome (associated with germline mutations in TP53), Fanconi anemia.

• #2 Medulloblastoma: What patients should better know about: 2024 updates

  https://oncodaily.com/oncolibrary/cancer-types/75000

  The exact cause of medulloblastoma is not well understood, but several genetic and environmental factors have been identified as potential risk factors. […] BRCA1 and BRCA2 Mutations: These genes, typically associated with breast cancer, can also play a role in the development of medulloblastoma by failing to repair damaged DNA properly. […] Gorlin Syndrome: Also known as nevoid basal cell carcinoma syndrome, this genetic condition increases the risk of developing medulloblastoma. […] Turcot Syndrome: A subtype of Lynch syndrome, this condition is associated with a higher risk of medulloblastoma. […] Li-Fraumeni Syndrome: This genetic disorder, which increases the risk of various cancers, is also linked to medulloblastoma. […] Nearly half of childhood medulloblastomas have a genetic abnormality on chromosome 17. Other chromosomal abnormalities have been identified on chromosomes 1, 7, 8, 9, 10q, 11, and 16. […] While radiation exposure is a known risk factor, there are currently no other established environmental or lifestyle-related risk factors for medulloblastoma in children.

• #2 What Is Medulloblastoma? – Klarity Health Library

  https://my.klarity.health/what-is-medulloblastoma/

  Individuals with Turcot syndrome have about a 3-8% chance of developing medulloblastoma. […] Exposure to ionising radiation, particularly at a young age, has been identified as a risk factor for developing medulloblastoma. […] The causes of medulloblastoma are likely multifactorial, involving a combination of genetic and environmental factors. […] Medulloblastoma is a malignant brain tumour found in children. The cause of the tumour is unknown but influenced by genetic mutations and radiation exposure.

• #2 Medulloblastoma: Subtypes, symptoms, treatment, and more

  https://www.medicalnewstoday.com/articles/medulloblastoma

  Environmental factors may also play a role. These may include: maternal diet, blood disorders during pregnancy, viral infections, such as the John Cunningham (JC) virus or human cytomegalovirus (CMV) in early childhood. […] Additionally, medulloblastoma can have a familial association and can occur alongside other syndromes, including: Gorlin syndrome, Fanconi anemia, Turcot syndrome, Li-Fraumeni syndrome. […] Its exact causes are not fully understood, but genetic factors play a significant role.

• #2 Pediatric Medulloblastoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/987886-overview

  Medulloblastoma is a heterogeneous disease. Recent advances in understanding the molecular characteristics of medulloblastoma cells allowed for sub-typing based on abnormalities seen at the molecular level. These subgroups are defined by their unique clinical behavior and outcomes. […] Epidemiological studies investigating parental occupational exposures, environmental exposures, and maternal nutritional intake have not proven a direct link between such factors and the development of childhood brain tumors. […] A case-control study conducted in the United Kingdom found that maternal anemia during pregnancy is associated with an increased risk of childhood embryonal tumors, including medulloblastoma (odds ratio, 2.36; 95% CI, 1.36-4.11). […] In one study, 5 of 37 (13.5%) patients with medulloblastoma were found to have germline mutations in one of the known cancer predisposing genes.

• #2 Medulloblastoma: From Molecular Pathology to Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3222918/

  Despite the fact that many medulloblastomas show identical histologic features, they respond differently to surgery, radiation, and chemotherapy. These differential responses may be ascribed to the involvement of other molecular pathways leading to a growth deregulation and to the promotion of invasion and metastasis. […] Several lines of evidence suggest an association between the occurrence of medulloblastoma and the human neurotropic polyomavirus JC (JCV). […] The oncogenic properties of JCV T antigen result, at least in part, from its ability to bind and inactivate tumor suppressor and cell cycle regulatory proteins, such as p53 and the pRb family of proteins. […] The pRb family is a group of nuclear proteins including pRb/p105, p107, and pRb2/p130. These proteins are the major regulators of cell proliferation and cell differentiation through their ability to suppress cell cycle progression.

• #2 Medulloblastoma – Wikipedia

  https://en.wikipedia.org/wiki/Medulloblastoma

  Of these subgroups, WNT patients have an excellent prognosis and group 3 patients have a poor prognosis. […] Also, a subgroup-specific alternative splicing further confirms the existence of distinct subgroups and highlights the transcriptional heterogeneity between subgroups. […] Amplification of the Sonic Hedgehog pathway is the best characterized subgroup, with 25% of human tumors having mutations in Patched, Sufu (Suppressor of Fused Homolog), Smoothened, or other genes in this pathway. […] Medulloblastomas are also seen in Gorlin syndrome as well as Turcot syndrome. […] Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1 were identified in individuals with medulloblastoma. […] Additional pathways disrupted in some medulloblastomas include MYC, Notch, BMP, and TGF- signaling pathways.

• #2 Causes of Medulloblastoma | medulloblastoma.org

  https://medulloblastoma.org/medullo-facts/causes-of-medulloblastoma/

  Experts dont yet know what causes medulloblastoma. It starts when changes to genes occur that affect how cells function. But why those genetic changes occur is not known. […] A very small number of cases might be related to a genetic trait that can be passed down in a family. However, the vast majority of medulloblastoma cases are what is called sporadic, which means the cause is unknown. […] Nothing has been found to date that ties medulloblastoma to a certain geographic region or to environmental exposure. […] The tumor begins when there is an uncontrolled growth of these types of cells in the brain. But why this growth occurs is unknown. […] The following conditions are associated with medulloblastoma. People with these conditions have a higher risk of developing medulloblastoma: Gorlin syndrome, Fanconi anemia, Turcot syndrome, Li-Fraumeni syndrome.

• #2 Overcoming Treatment Resistance in Medulloblastoma: Underlying Mechanisms and Potential Strategies

  https://www.mdpi.com/2072-6694/16/12/2249

  Medulloblastoma is the most common type of malignant brain tumor that occurs in the pediatric population. It is associated with significant morbidity and mortality due to the long-lasting side effects associated with its treatment and its high potential for relapse despite the implementation of aggressive therapeutic modalities, including surgery, chemotherapy, and craniospinal irradiation. […] The development of this resistance results from the interplay of a myriad of anatomical properties, cellular processes, molecular pathways, and genetic and epigenetic alterations. In fact, several efforts have been directed towards this domain and characterizing the major contributors to this resistance. […] These mechanisms include the impermeability of the blood-brain barrier to drugs, the overactivation of specific molecular pathways, the resistant and multipotent nature of cancer stem cells, intratumoral and intertumoral heterogeneity, and metabolic plasticity.

• #3 Medulloblastoma in Children | Treatment | Neurology, Neurosurgery, Spine Care | UTHealth Neurosciences

  https://med.uth.edu/neurosciences/conditions-and-treatments/medulloblastoma-in-children/

  Medulloblastoma tumors occur when cells develop poorly early in a childs life. Although the exact cause is unknown, researchers have identified genetic changes that may play a role in the development and growth of this type of tumor. Medulloblastoma is associated with certain inherited conditions, including Li-Fraumeni syndrome, Gorlin syndrome, and Turcot syndrome. […] According to the American Cancer Society, about 500 children are diagnosed every year with medulloblastoma, the most common malignant brain tumor in children. Current treatments expose children to considerable toxicity, and when tumors reoccur despite treatment, survival rates are low.

• #3

  https://braintumourresearch.org/pages/types-of-brain-tumours-medulloblastoma?srsltid=AfmBOoqGVj-7WGV8xBRwX7HCuOu3Zv1-H_pLAId-iOg8QrmOoRl-Rjuh

  There is also a cell signalling pathway controlled by a protein called NOTCH1 that scientists believe is influencing the aggressive nature of these Group 3 tumours. […] The largest subtype, Group 4 medulloblastoma accounts for up to 30% of patients diagnosed with this tumour type. However, the molecular make-up of these tumours is the least well understood.

• #3 Medulloblastoma Diagnosis and Treatment | IntechOpen

  https://www.intechopen.com/chapters/1185809

  Medulloblastoma is the most common malignant brain tumor in children. […] There is no clear etiology for medulloblastoma. An association between medulloblastoma and viral infections, for example, early John Cunningham (JC) viral infections or human cytomegalovirus (CMV) infections in childhood, has been reported. […] The majority of medulloblastomas occur as sporadic cases. However, hereditary conditions have been associated with medulloblastoma, including (1) Gorlin syndrome, (2) blue rubber-bleb nevus syndrome, (3) Turcot syndrome, (4) Rubinstein-Taybi syndrome, and (5) Li-Fraumeni syndrome.

• #3 Medulloblastoma: From Molecular Pathology to Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3222918/

  Although there is no evidence regarding alterations of the pRb2/p130 pathway in medulloblastoma, it seems to be implicated in glioblastoma. […] Currently, many strides have been conducted in the field of medulloblastoma, and several molecular modifications have been identified, the elucidation of which might have direct effects on tumor management. In fact, a better understanding of the genetic events underlying the pathology of these tumors may contribute to the development of new more effective and less harmful clinical strategies. […] Numerous growth factor receptors have been considered molecular markers, and may be used for the stratification of tumor in clinical trials, such as TrkC, which has been associated with good prognosis, and ERBB2, platelet-derived growth factor receptor-, insulin-like growth factor receptor I which have been associated with poor prognosis. […] Inhibitors of the SHH and ERBB2 pathways represent a great promise as a first-generation molecular-targeted therapy for medulloblastoma, even if the development of these agents for routine clinical use will not be easy.

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