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Mismatch repair cancer syndrome

December 15, 2023

Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations.[1] It is also known as Turcot syndrome (after Jacques Turcot, who described the condition in 1959) and by several other names.[1]

Mismatch repair cancer syndrome
Other namesBrain tumor-polyposis syndrome, Glioma-polyposis syndrome
This condition is inherited in an autosomal recessive manner
SpecialtyOncology

In MMRCS, neoplasia typically occurs in both the gut and the central nervous system (CNS).[1] In the large intestine, multiple colonic polyps develop; in the CNS, brain tumors.

Genetics edit

Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2.[2] Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, while biallelic mutations are observed in CMMR-D.[3] People expressing the HNPCC (which itself is considered autosomal dominant) trait are considered carriers of CMMR-D, thus CMMR-D is classified as autosomal recessive.[citation needed]

The term "childhood cancer syndrome" has also been proposed.[4][5] Café-au-lait macules have been observed.[6]

Diagnosis edit

Childhood to early adult onset HNPCC + malignant gliomas. The polyps developed tend to be larger, fewer, and progress to malignancy earlier than those seen in familial adenomatous polyposis,[1] a clinically similar condition with different underlying mutations. Diagnostic testing consists of a blood sample being collected, and a genetic specialist compares two copies of a patient's gene to normal MMR genes. If there are differences in the genes, the specialists are able to further test and decide if the patient has the deficiency. [7]

Treatment edit

History edit

OMIM currently includes "Turcot syndrome" under Mismatch repair cancer syndrome. Turcot syndrome is the association between familial polyposis of the colon and brain tumors[8] like medulloblastoma, malignant glioma. It was first reported by Canadian surgeon Jacques Turcot (1914-1977 ) et al. in 1959 and hence carries the first author's name.[9]

See also edit

References edit

  1. ^ a b c d Online Mendelian Inheritance in Man (OMIM): 276300
  2. ^ Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K (June 2009). "Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome" (PDF). Journal of Medical Genetics. 46 (6): 418–20. doi:10.1136/jmg.2008.064212. PMID 19293170. S2CID 42347878.
  3. ^ Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?". Human Genetics. 124 (2): 105–22. doi:10.1007/s00439-008-0542-4. PMID 18709565. S2CID 32654505.
  4. ^ Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK (January 2008). "Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1". European Journal of Human Genetics. 16 (1): 62–72. doi:10.1038/sj.ejhg.5201923. PMID 17851451.
  5. ^ Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L (March 2008). "Biallelic PMS2 mutations and a distinctive childhood cancer syndrome". Journal of Pediatric Hematology/Oncology. 30 (3): 254–7. doi:10.1097/MPH.0b013e318161aa20. PMID 18376293.
  6. ^ Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2". Pediatric Blood & Cancer. 50 (6): 1268–70. doi:10.1002/pbc.21514. PMID 18273873. S2CID 34238025.
  7. ^ "Constitutional Mismatch Repair Deficiency Syndrome". www.stjude.org. Retrieved 2020-03-10.
  8. ^ "" at Dorland's Medical Dictionary
  9. ^ Turcot J, Despres JP, St Pierre F (1959). "Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases". Diseases of the Colon and Rectum. 2: 465–8. doi:10.1007/bf02616938. PMID 13839882. S2CID 27477524.

External links edit

  • Turcot syndrome; CNS tumors with Familial polyposis of the colon at NIH's Office of Rare Diseases

December 15, 2023
mismatch, repair, cancer, syndrome, mmrcs, cancer, syndrome, associated, with, biallelic, mismatch, repair, mutations, also, known, turcot, syndrome, after, jacques, turcot, described, condition, 1959, several, other, names, other, namesbrain, tumor, polyposis. Mismatch repair cancer syndrome MMRCS is a cancer syndrome associated with biallelic DNA mismatch repair mutations 1 It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959 and by several other names 1 Mismatch repair cancer syndromeOther namesBrain tumor polyposis syndrome Glioma polyposis syndromeThis condition is inherited in an autosomal recessive mannerSpecialtyOncologyIn MMRCS neoplasia typically occurs in both the gut and the central nervous system CNS 1 In the large intestine multiple colonic polyps develop in the CNS brain tumors Contents 1 Genetics 2 Diagnosis 3 Treatment 4 History 5 See also 6 References 7 External linksGenetics editUnder the name constitutional mismatch repair deficiency CMMR D it has been mapped to MLH1 MSH2 MSH6 or PMS2 2 Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer while biallelic mutations are observed in CMMR D 3 People expressing the HNPCC which itself is considered autosomal dominant trait are considered carriers of CMMR D thus CMMR D is classified as autosomal recessive citation needed The term childhood cancer syndrome has also been proposed 4 5 Cafe au lait macules have been observed 6 Diagnosis editChildhood to early adult onset HNPCC malignant gliomas The polyps developed tend to be larger fewer and progress to malignancy earlier than those seen in familial adenomatous polyposis 1 a clinically similar condition with different underlying mutations Diagnostic testing consists of a blood sample being collected and a genetic specialist compares two copies of a patient s gene to normal MMR genes If there are differences in the genes the specialists are able to further test and decide if the patient has the deficiency 7 Treatment editThis section is empty You can help by adding to it July 2017 History editOMIM currently includes Turcot syndrome under Mismatch repair cancer syndrome Turcot syndrome is the association between familial polyposis of the colon and brain tumors 8 like medulloblastoma malignant glioma It was first reported by Canadian surgeon Jacques Turcot 1914 1977 et al in 1959 and hence carries the first author s name 9 See also editGardner syndromeReferences edit a b c d Online Mendelian Inheritance in Man OMIM 276300 Kratz CP Holter S Etzler J Lauten M Pollett A Niemeyer CM Gallinger S Wimmer K June 2009 Rhabdomyosarcoma in patients with constitutional mismatch repair deficiency syndrome PDF Journal of Medical Genetics 46 6 418 20 doi 10 1136 jmg 2008 064212 PMID 19293170 S2CID 42347878 Wimmer K Etzler J September 2008 Constitutional mismatch repair deficiency syndrome have we so far seen only the tip of an iceberg Human Genetics 124 2 105 22 doi 10 1007 s00439 008 0542 4 PMID 18709565 S2CID 32654505 Kruger S Kinzel M Walldorf C Gottschling S Bier A Tinschert S von Stackelberg A Henn W Gorgens H Boue S Kolble K Buttner R Schackert HK January 2008 Homozygous PMS2 germline mutations in two families with early onset haematological malignancy brain tumours HNPCC associated tumours and signs of neurofibromatosis type 1 European Journal of Human Genetics 16 1 62 72 doi 10 1038 sj ejhg 5201923 PMID 17851451 Tan TY Orme LM Lynch E Croxford MA Dow C Dewan PA Lipton L March 2008 Biallelic PMS2 mutations and a distinctive childhood cancer syndrome Journal of Pediatric Hematology Oncology 30 3 254 7 doi 10 1097 MPH 0b013e318161aa20 PMID 18376293 Jackson CC Holter S Pollett A Clendenning M Chou S Senter L Ramphal R Gallinger S Boycott K June 2008 Cafe au lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair MMR gene PMS2 Pediatric Blood amp Cancer 50 6 1268 70 doi 10 1002 pbc 21514 PMID 18273873 S2CID 34238025 Constitutional Mismatch Repair Deficiency Syndrome www stjude org Retrieved 2020 03 10 Turcot syndrome at Dorland s Medical Dictionary Turcot J Despres JP St Pierre F 1959 Malignant tumors of the central nervous system associated with familial polyposis of the colon report of two cases Diseases of the Colon and Rectum 2 465 8 doi 10 1007 bf02616938 PMID 13839882 S2CID 27477524 External links editTurcot syndrome CNS tumors with Familial polyposis of the colon at NIH s Office of Rare Diseases Retrieved from https en wikipedia org w index php title Mismatch repair cancer syndrome amp oldid 1143971823, wikipedia, wiki, book, books, library,

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