Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome

European Journal of Medical Genetics

Volumn 59, Issue 3, 2016, Pages 133-142

  Ripperger, Tim ^a   Schlegelberger, Brigitte ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Acute lymphoblastic leukemia; Constitutional mismatch repair deficiency (CMMRD); Genetic predisposition; Pediatric cancer predisposition

Indexed keywords

MISMATCH REPAIR PROTEIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANCER RISK; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; DISEASE PREDISPOSITION; GENETIC COUNSELING; HUMAN; LYMPHOMA; MISMATCH REPAIR; RARE DISEASE; BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; GENETIC PREDISPOSITION; GENETICS; HEMATOLOGIC NEOPLASMS; NEOPLASTIC SYNDROMES, HEREDITARY; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; SECOND CANCER;

BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC NEOPLASMS; HUMANS; LYMPHOMA; NEOPLASMS, SECOND PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 84959101043     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.12.014     Document Type: Article

References (58)

1. Allan J.M., Travis L.B. Mechanisms of therapy-related carcinogenesis. Nat. Rev. Cancer 2005, 5:943-955.
2. Baas A.F., Gabbett M., Rimac M., Kansikas M., Raphael M., Nievelstein R.A., Nicholls W., Offerhaus J., Bodmer D., Wernstedt A., Krabichler B., Strasser U., Nystrom M., Zschocke J., Robertson S.P., van Haelst M.M., Wimmer K. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur. J. Hum. Genet. 2013, 21:55-61.
3. Bakry D., Aronson M., Durno C., Rimawi H., Farah R., Alharbi Q.K., Alharbi M., Shamvil A., Ben-Shachar S., Mistry M., Constantini S., Dvir R., Qaddoumi I., Gallinger S., Lerner-Ellis J., Pollett A., Stephens D., Kelies S., Chao E., Malkin D., Bouffet E., Hawkins C., Tabori U. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur. J. Cancer 2014, 50:987-996.
4. Bodo S., Colas C., Buhard O., Collura A., Tinat J., Lavoine N., Guilloux A., Chalastanis A., Lafitte P., Coulet F., Buisine M.P., Ilencikova D., Ruiz-Ponte C., Kinzel M., Grandjouan S., Brems H., Lejeune S., Blanche H., Wang Q., Caron O., Cabaret O., Svrcek M., Vidaud D., Parfait B., Verloes A., Knappe U.J., Soubrier F., Mortemousque I., Leis A., Auclair-Perrossier J., Frebourg T., Flejou J.F., Entz-Werle N., Leclerc J., Malka D., Cohen-Haguenauer O., Goldberg Y., Gerdes A.M., Fedhila F., Mathieu-Dramard M., Hamelin R., Wafaa B., Gauthier-Villars M., Bourdeaut F., Sheridan E., Vasen H., Brugieres L., Wimmer K., Muleris M., Duval A. European consortium "Care for C. Diagnosis of constitutional mismatch repair-deficiency syndrome based on microsatellite instability and lymphocyte tolerance to methylating agents. Gastroenterology 2015, 149:1017 e3-1029 e3.
5. Bougeard G., Charbonnier F., Moerman A., Martin C., Ruchoux M.M., Drouot N., Frebourg T. Early onset brain tumor and lymphoma in MSH2-deficient children. Am. J. Hum. Genet. 2003, 72:213-216.
6. Bougeard G., Olivier-Faivre L., Baert-Desurmont S., Tinat J., Martin C., Bouvignies E., Vasseur S., Huet F., Couillault G., Vabres P., Le Pessot F., Chapusot C., Malka D., Bressac-de Paillerets B., Tosi M., Frebourg T. Diversity of the clinical presentation of the MMR gene biallelic mutations. Fam. Cancer 2014, 13:131-135.
7. Burn J., Mathers J.C., Bishop D.T. Chemoprevention in Lynch syndrome. Fam. Cancer 2013, 12:707-718.
8. Chmara M., Wernstedt A., Wasag B., Peeters H., Renard M., Beert E., Brems H., Giner T., Bieber I., Hamm H., Sciot R., Wimmer K., Legius E. Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. Genes Chromosom. Cancer 2013, 52:656-664.
9. Daou B., Zanello M., Varlet P., Brugieres L., Jabbour P., Caron O., Lavoine N., Dhermain F., Willekens C., Beuvon F., Malka D., Lechapt-Zalcmann E., Abi Lahoud G. An unusual case of constitutional mismatch repair deficiency syndrome with anaplastic ganglioglioma, colonic Adenocarcinoma, osteosarcoma, acute myeloid leukemia, and signs of neurofibromatosis type 1: case report. Neurosurgery 2015, 77:E145-E152.
10. De Vos M., Hayward B.E., Charlton R., Taylor G.R., Glaser A.W., Picton S., Cole T.R., Maher E.R., McKeown C.M., Mann J.R., Yates J.R., Baralle D., Rankin J., Bonthron D.T., Sheridan E. PMS2 mutations in childhood cancer. J. Natl. Cancer Inst. 2006, 98:358-361.
11. De Vos M., Hayward B.E., Picton S., Sheridan E., Bonthron D.T. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am. J. Hum. Genet. 2004, 74:954-964.
12. Durno C.A., Aronson M., Tabori U., Malkin D., Gallinger S., Chan H.S. Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatr. Blood Cancer 2012, 59:652-656.
13. Durno C.A., Sherman P.M., Aronson M., Malkin D., Hawkins C., Bakry D., Bouffet E., Gallinger S., Pollett A., Campbell B., Tabori U., International B.C. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. Eur. J. Cancer 2015, 51:977-983.
14. Elhasid R., Dvir R., Rosenfeld Keidar H., Ben Shachar S., Bitan M., Solar I., Durno C., Aronson M., Malkin D., Hawkins C., Bouffet E., Tabori U., Consortium B. Management of acute myeloblastic leukemia in a child with biallelic mismatch repair deficiency. J. Pediatr. Hematol. Oncol. 2015, 37:e490-e493.
15. Etzler J., Peyrl A., Zatkova A., Schildhaus H.U., Ficek A., Merkelbach-Bruse S., Kratz C.P., Attarbaschi A., Hainfellner J.A., Yao S., Messiaen L., Slavc I., Wimmer K. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum. Mutat. 2008, 29:299-305.
16. Fedier A., Fink D. Mutations in DNA mismatch repair genes: implications for DNA damage signaling and drug sensitivity (review). Int. J. Oncol. 2004, 24:1039-1047.
17. Hamilton S.R., Liu B., Parsons R.E., Papadopoulos N., Jen J., Powell S.M., Krush A.J., Berk T., Cohen Z., Tetu B., et al. The molecular basis of Turcot's syndrome. N. Engl. J. Med. 1995, 332:839-847.
18. Hegde M.R., Chong B., Blazo M.E., Chin L.H., Ward P.A., Chintagumpala M.M., Kim J.Y., Plon S.E., Richards C.S. A homozygous mutation in MSH6 causes Turcot syndrome. Clin. Cancer Res. 2005, 11:4689-4693.
19. Hoell J.I., Gombert M., Ginzel S., Loth S., Landgraf P., Kafer V., Streiter M., Prokop A., Weiss M., Thiele R., Borkhardt A. Constitutional mismatch repair-deficiency and whole-exome sequencing as the means of the rapid detection of the causative MSH6 defect. Klin. Padiatr 2014, 226:357-361.
20. Holter S., Pollett A., Zogopoulos G., Kim H., Schwenter F., Asai K., Gallinger S., Clendenning M., Steinbach G., Jacobson A., Boycott K.M. Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations. Gastroenterology 2011, 140:735-736.
21. Hunter C., Smith R., Cahill D.P., Stephens P., Stevens C., Teague J., Greenman C., Edkins S., Bignell G., Davies H., O'Meara S., Parker A., Avis T., Barthorpe S., Brackenbury L., Buck G., Butler A., Clements J., Cole J., Dicks E., Forbes S., Gorton M., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Kosmidou V., Laman R., Lugg R., Menzies A., Perry J., Petty R., Raine K., Richardson D., Shepherd R., Small A., Solomon H., Tofts C., Varian J., West S., Widaa S., Yates A., Easton D.F., Riggins G., Roy J.E., Levine K.K., Mueller W., Batchelor T.T., Louis D.N., Stratton M.R., Futreal P.A., Wooster R. A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy. Cancer Res. 2006, 66:3987-3991.
22. Ilencikova D., Sejnova D., Jindrova J., Babal P. High-grade brain tumors in siblings with biallelic MSH6 mutations. Pediatr. Blood Cancer 2011, 57:1067-1070.
23. Ingham D., Diggle C.P., Berry I., Bristow C.A., Hayward B.E., Rahman N., Markham A.F., Sheridan E.G., Bonthron D.T., Carr I.M. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. Hum. Mutat. 2013, 34:847-852.
24. Kratz C.P., Holter S., Etzler J., Lauten M., Pollett A., Niemeyer C.M., Gallinger S., Wimmer K. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J. Med. Genet. 2009, 46:418-420.
25. Kratz C.P., Niemeyer C.M., Juttner E., Kartal M., Weninger A., Schmitt-Graeff A., Kontny U., Lauten M., Utzolino S., Radecke J., Fonatsch C., Wimmer K. Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with cafe-au-lait spots caused by a novel homozygous PMS2 mutation. Leukemia 2008, 22:1078-1080.
26. 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 H.K. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur. J. Hum. Genet. 2008, 16:62-72.
27. Lavoine N., Colas C., Muleris M., Bodo S., Duval A., Entz-Werle N., Coulet F., Cabaret O., Andreiuolo F., Charpy C., Sebille G., Wang Q., Lejeune S., Buisine M.P., Leroux D., Couillault G., Leverger G., Fricker J.P., Guimbaud R., Mathieu-Dramard M., Jedraszak G., Cohen-Hagenauer O., Guerrini-Rousseau L., Bourdeaut F., Grill J., Caron O., Baert-Dusermont S., Tinat J., Bougeard G., Frebourg T., Brugieres L. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J. Med. Genet. 2015, 52:770-778.
28. Le D.T., Uram J.N., Wang H., Bartlett B.R., Kemberling H., Eyring A.D., Skora A.D., Luber B.S., Azad N.S., Laheru D., Biedrzycki B., Donehower R.C., Zaheer A., Fisher G.A., Crocenzi T.S., Lee J.J., Duffy S.M., Goldberg R.M., de la Chapelle A., Koshiji M., Bhaijee F., Huebner T., Hruban R.H., Wood L.D., Cuka N., Pardoll D.M., Papadopoulos N., Kinzler K.W., Zhou S., Cornish T.C., Taube J.M., Anders R.A., Eshleman J.R., Vogelstein B., Diaz L.A. PD-1 blockade in tumors with mismatch-repair deficiency. N. Engl. J. Med. 2015, 372:2509-2520.
29. Levati L., Marra G., Lettieri T., D'Atri S., Vernole P., Tentori L., Lacal P.M., Pagani E., Bonmassar E., Jiricny J., Graziani G. Mutation of the mismatch repair gene hMSH2 and hMSH6 in a human T-cell leukemia line tolerant to methylating agents. Genes Chromosom. Cancer 1998, 23:159-166.
30. Ostergaard J.R., Sunde L., Okkels H. Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. Am. J. Med. Genet. A 2005, 139A:96-105.
31. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J. Clin. Oncol. 2003, 21:1174-1179.
32. Peron S., Metin A., Gardes P., Alyanakian M.A., Sheridan E., Kratz C.P., Fischer A., Durandy A. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J. Exp. Med. 2008, 205:2465-2472.
33. Peters A., Born H., Ettinger R., Levonian P., Jedele K.B. Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient. J. Pediatr. Hematol. Oncol. 2009, 31:113-115.
34. Poley J.W., Wagner A., Hoogmans M.M., Menko F.H., Tops C., Kros J.M., Reddingius R.E., Meijers-Heijboer H., Kuipers E.J., Dinjens W.N. Rotterdam initiative on gastrointestinal hereditary T. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 2007, 109:2349-2356.
35. Ramachandra C., Challa V.R., Shetty R. Constitutional mismatch repair deficiency syndrome: do we know it?. Indian J. Hum. Genet. 2014, 20:192-194.
36. Ricciardone M.D., Ozcelik T., Cevher B., Ozdag H., Tuncer M., Gurgey A., Uzunalimoglu O., Cetinkaya H., Tanyeli A., Erken E., Ozturk M. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res. 1999, 59:290-293.
37. Ripperger T., Beger C., Rahner N., Sykora K.W., Bockmeyer C.L., Lehmann U., Kreipe H.H., Schlegelberger B. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma-report on a novel biallelic MSH6 mutation. Haematologica 2010, 95:841-844.
38. Scott R.H., Homfray T., Huxter N.L., Mitton S.G., Nash R., Potter M.N., Lancaster D., Rahman N. Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. J. Med. Genet. 2007, 44:e83.
39. Scott R.H., Mansour S., Pritchard-Jones K., Kumar D., MacSweeney F., Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat. Clin. Pract. Oncol. 2007, 4:130-134.
40. Senter L., Clendenning M., Sotamaa K., Hampel H., Green J., Potter J.D., Lindblom A., Lagerstedt K., Thibodeau S.N., Lindor N.M., Young J., Winship I., Dowty J.G., White D.M., Hopper J.L., Baglietto L., Jenkins M.A., de la Chapelle A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008, 135:419-428.
41. Steinemann D., Arning L., Praulich I., Stuhrmann M., Hasle H., Stary J., Schlegelberger B., Niemeyer C.M., Flotho C. Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica 2010, 95:320-323.
42. Taylor M.D., Perry J., Zlatescu M.C., Stemmer-Rachamimov A.O., Ang L.C., Ino Y., Schwartz M., Becker L.E., Louis D.N., Cairncross J.G. The hPMS2 exon 5 mutation and malignant glioma. Case report. J. Neurosurg. 1999, 90:946-950.
43. Trimbath J.D., Petersen G.M., Erdman S.H., Ferre M., Luce M.C., Giardiello F.M. Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?. Fam. Cancer 2001, 1:101-105.
44. Umar A., Boland C.R., Terdiman J.P., Syngal S., de la Chapelle A., Ruschoff J., Fishel R., Lindor N.M., Burgart L.J., Hamelin R., Hamilton S.R., Hiatt R.A., Jass J., Lindblom A., Lynch H.T., Peltomaki P., Ramsey S.D., Rodriguez-Bigas M.A., Vasen H.F., Hawk E.T., Barrett J.C., Freedman A.N., Srivastava S. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl. Cancer Inst. 2004, 96:261-268.
45. Vasen H.F., Blanco I., Aktan-Collan K., Gopie J.P., Alonso A., Aretz S., Bernstein I., Bertario L., Burn J., Capella G., Colas C., Engel C., Frayling I.M., Genuardi M., Heinimann K., Hes F.J., Hodgson S.V., Karagiannis J.A., Lalloo F., Lindblom A., Mecklin J.P., Moller P., Myrhoj T., Nagengast F.M., Parc Y., Ponz de Leon M., Renkonen-Sinisalo L., Sampson J.R., Stormorken A., Sijmons R.H., Tejpar S., Thomas H.J., Rahner N., Wijnen J.T., Jarvinen H.J., Moslein G., Mallorca G. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013, 62:812-823.
46. Vasen H.F., Ghorbanoghli Z., Bourdeaut F., Cabaret O., Caron O., Duval A., Entz-Werle N., Goldberg Y., Ilencikova D., Kratz C.P., Lavoine N., Loeffen J., Menko F.H., Muleris M., Sebille G., Colas C., Burkhardt B., Brugieres L., Wimmer K. C4CMMRD. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European consortium "Care for CMMR-D" (C4CMMR-D). J. Med. Genet. 2014, 51:283-293.
47. Vasen H.F., Moslein G., Alonso A., Bernstein I., Bertario L., Blanco I., Burn J., Capella G., Engel C., Frayling I., Friedl W., Hes F.J., Hodgson S., Mecklin J.P., Moller P., Nagengast F., Parc Y., Renkonen-Sinisalo L., Sampson J.R., Stormorken A., Wijnen J. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J. Med. Genet. 2007, 44:353-362.
48. Vasen H.F., Watson P., Mecklin J.P., Lynch H.T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
49. Vaughn C.P., Hart K.J., Samowitz W.S., Swensen J.J. Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. Hum. Mutat. 2011, 32:1063-1071.
50. Vaughn C.P., Robles J., Swensen J.J., Miller C.E., Lyon E., Mao R., Bayrak-Toydemir P., Samowitz W.S. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum. Mutat. 2010, 31:588-593.
51. Walter A.W., Ennis S., Best H., Vaughn C.P., Swensen J.J., Openshaw A., Gripp K.W. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Pediatr. Blood Cancer 2013, 60:E135-E136.
52. Wang Q., Lasset C., Desseigne F., Frappaz D., Bergeron C., Navarro C., Ruano E., Puisieux A. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 1999, 59:294-297.
53. Whiteside D., McLeod R., Graham G., Steckley J.L., Booth K., Somerville M.J., Andrew S.E. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. Cancer Res. 2002, 62:359-362.
54. Wimmer K., Brugieres L., Duval A., Muleris M., Kratz C.P., Vasen H.F. Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome. J Med Genet. 2015 Jun 3, pii:jmedgenet-2015-103249. [Epub ahead of print]. 10.1136/jmedgenet-2015-103249.
55. Wimmer K., Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?. Hum. Genet. 2008, 124:105-122.
56. Wimmer K., Kratz C.P. Constitutional mismatch repair-deficiency syndrome. Haematologica 2010, 95:699-701.
57. Wimmer K., Kratz C.P., Vasen H.F., Caron O., Colas C., Entz-Werle N., Gerdes A.M., Goldberg Y., Ilencikova D., Muleris M., Duval A., Lavoine N., Ruiz-Ponte C., Slavc I., Burkhardt B., Brugieres L. C4CMMRD. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J. Med. Genet. 2014, 51:355-365.
58. Wimmer K., Wernstedt A. PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference. Methods Mol. Biol. 2014, 1167:289-302.