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Review article

Hematological Malignancies in Adults With a Family Predisposition

Dtsch Arztebl Int 2018; 115(50): 848-54; DOI: 10.3238/arztebl.2018.0848

Bochtler, T; Haag, G; Schott, S; Kloor, M; Krämer, A; Müller-Tidow, C

1.Steinke V, Engel C, Buttner R, Schackert HK, Schmiegel WH, Propping P: Hereditary nonpolyposis colorectal cancer (HNPCC)/lynch syndrome. Dtsch Arztebl Int 2013; 110: 32–8 CrossRef
2.Lax SF: Hereditary breast and ovarian cancer. Pathologe 2017; 38: 149–55 CrossRef MEDLINE
3.DiNardo CD, Bannon SA, Routbort M, et al.: Evaluation of patients and families with concern for predispositions to hematologic malignancies within the hereditary hematologic malignancy clinic (HHMC). Clin Lymphoma Myeloma Leuk 2016; 16: 417–28e2.
4.Porter C: Germ line mutations associated with leukemias. Hematology 2016: 302–8 CrossRef MEDLINE PubMed Central
5.Similuk M, Rao VK, Churpek J, Lenardo M: Predispositions to lymphoma: a practical review for genetic counselors. J Genet Couns 2016; 25: 1157–70 CrossRef MEDLINE
6.Churpek JE: Familial myelodysplastic syndrome/acute myeloid leukemia. Best Pract Res Clin Haematol 2017; 30: 287–9 CrossRef MEDLINE PubMed Central
7.University of Chicago Hematopoietic Malignancies Cancer Risk Team: How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood 2016; 128: 1800–13 CrossRef MEDLINE PubMed Central
8.Furutani E, Shimamura A: Germline genetic predisposition to hematologic malignancy. J Clin Oncol 2017; 35: 1018–28 CrossRef MEDLINE PubMed Central
9.Zhang MY, Keel SB, Walsh T, et al.: Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica 2015; 100: 42–8 CrossRef MEDLINE PubMed Central
10.Keel SB, Scott A, Sanchez-Bonilla M, et al.: Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica 2016; 101: 1343–50 CrossRef MEDLINE PubMed Central
11.Narumi S, Amano N, Ishii T, et al.: SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet 2016; 48: 792–7 CrossRef MEDLINE
12.Jeffries L, Shima H, Ji W, et al.: A novel SAMD9 mutation causing MIRAGE syndrome: an expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A 2018; 176: 415–20 CrossRef MEDLINE
13.Nickels EM, Soodalter J, Churpek JE, Godley LA: Recognizing familial myeloid leukemia in adults. Ther Adv Hematol 2013; 4: 254–69 CrossRef MEDLINE PubMed Central
14.Shimamura A, Alter BP: Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010; 24: 101–22 CrossRef MEDLINE PubMed Central
15.Bannon SA, DiNardo CD: Hereditary predispositions to myelodysplastic syndrome. Int J Mol Sci 2016; 17 CrossRef
16.Chompret A, Brugieres L, Ronsin M, et al.: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000; 82: 1932–7 MEDLINE PubMed Central
17. Bougeard G, Renaux-Petel M, Flaman JM, et al.: Revisiting li-fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 2015; 33: 2345–52 CrossRefMEDLINE
18.Valdez JM, Nichols KE, Kesserwan C: Li-fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol 2017; 176: 539–52 CrossRef MEDLINE
19.Suarez F, Mahlaoui N, Canioni D, et al.: Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol 2015; 33: 202–8 CrossRef MEDLINE
20.Alter BP: Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Blood 2017; 130: 2257–64 CrossRef MEDLINE PubMed Central
21. van Os NJ, Roeleveld N, Weemaes CM, et al.: Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet 2016; 90: 105–17 CrossRef MEDLINE
22.Renault AL, Mebirouk N, Cavaciuti E, et al.: Telomere length, ATM mutation status and cancer risk in ataxia-telangiectasia families. Carcinogenesis 2017; 38: 994–1003 CrossRef MEDLINE PubMed Central
23.Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J: Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 2004; 351: 2403–7 CrossRef MEDLINE
24.Sellick GS, Spendlove HE, Catovsky D, Pritchard-Jones K, Houlston RS: Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia 2005; 19: 1276–8 CrossRef MEDLINE
25.Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU: Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol 2008; 26: 5088–93 CrossRef MEDLINE
26. Tawana K, Wang J, Renneville A, et al.: Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood 2015; 126: 1214–23 CrossRef MEDLINE
27.Schlegelberger B, Heller PG: RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). Semin Hematol 2017; 54: 75–80 CrossRef MEDLINE
28.Sood R, Kamikubo Y, Liu P: Role of RUNX1 in hematological malignancies. Blood 2017; 129: 2070–82 CrossRef MEDLINE PubMed Central
29.Hayashi Y, Harada Y, Huang G, Harada H: Myeloid neoplasms with germ line RUNX1 mutation. Int J Hematol 2017; 106: 183–8 CrossRef MEDLINE
30.Feurstein S, Godley LA: Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol 2017; 106: 189–95 CrossRef MEDLINE
31.Polprasert C, Schulze I, Sekeres MA, et al.: Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 2015; 27: 658–70 CrossRef MEDLINE
32. Lewinsohn M, Brown AL, Weinel LM, et al.: Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 2016; 127: 1017–23 CrossRef MEDLINE PubMed Central
33.Maciejewski JP, Padgett RA, Brown AL, Muller-Tidow C: DDX41-related myeloid neoplasia. Semin Hematol 2017; 54: 94–7 CrossRef MEDLINE
34.Wlodarski MW, Hirabayashi S, Pastor V, et al.: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 2016; 127: 1387–97; quiz 518 CrossRef MEDLINE
35.Davidsson J, Puschmann A, Tedgard U, Bryder D, Nilsson L, Cammenga J: SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. Leukemia 2018 CrossRef MEDLINE PubMed Central
36.Niemeyer CM, Mecucci C: Practical considerations for diagnosis and management of patients and carriers. Semin Hematol 2017; 54: 69–74. CrossRef MEDLINE
37.Godley LA, Shimamura A: Genetic predisposition to hematologic malignancies: management and surveillance. Blood 2017; 130: 424–32 CrossRef MEDLINE PubMed Central
38.DiNardo CD: Getting a handle on hereditary CEBPA mutations. Blood 2015; 126: 1156–8 CrossRef MEDLINE
39.Arber DA, Orazi A, Hasserjian R, et al.: The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127: 2391–405 CrossRef MEDLINE
40.Richards S, Aziz N, Bale S, et al.: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–24 CrossRef MEDLINE PubMed Central
e1. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD: Hematologic abnormalities in fanconi anemia: an international fanconi anemia registry study. Blood 1994; 84: 1650–5 MEDLINE
e2. Tischkowitz M, Xia B, Sabbaghian N, et al.: Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A 2007; 104: 6788–93 CrossRef MEDLINE PubMed Central
e3.Berwick M, Satagopan JM, Ben-Porat L, et al.: Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007; 67: 9591–6 CrossRef MEDLINE PubMed Central
e4.Laitman Y, Boker-Keinan L, Berkenstadt M, et al.: The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. Cancer Genet 2016; 209: 70–4 CrossRef MEDLINE
e5.Przychodzen B, Makishima H, Sekeres MA, et al.: Fanconi anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. Oncotarget 2018; 9: 2050–7 CrossRef MEDLINE PubMed Central
e6.Dror Y, Donadieu J, Koglmeier J, et al.: Draft consensus guidelines for diagnosis and treatment of shwachman-diamond syndrome. Ann N Y Acad Sci 2011; 1242: 40–55 CrossRef MEDLINE
e7.Salmon A, Amikam D, Sodha N, et al.: Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline ‚de-novo‘ TP53 mutation. Clin Oncol (R Coll Radiol) 2007; 19: 490–3 CrossRef MEDLINE
e8.Heymann S, Delaloge S, Rahal A, et al.: Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with li-fraumeni syndrome. Radiat Oncol 2010; 5: 104 CrossRef MEDLINE PubMed Central
e9. Kamihara J, Rana HQ, Garber JE: Germline TP53 mutations and the changing landscape of li-fraumeni syndrome. Hum Mutat 2014; 35: 654–62 CrossRef MEDLINE
e10.Saida S: Predispositions to leukemia in down syndrome and other hereditary disorders. Curr Treat Options Oncol 2017; 18: 41 CrossRef MEDLINE
e11. Babushok DV, Bessler M, Olson TS: Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma 2016; 57: 520–36 CrossRef MEDLINE PubMed Central
e12.Berger G, van den Berg E, Sikkema-Raddatz B, et al.: Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation. Leukemia 2017; 31: 520–2 CrossRef MEDLINE
e13. Rumi E: Familial chronic myeloproliferative disorders: the state of the art. Hematol Oncol 2008; 26: 131–8 CrossRef MEDLINE
e14.Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Bjorkholm M: Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood 2008; 112: 2199–204 CrossRef MEDLINE PubMed Central
e15. Rumi E, Passamonti F, Della Porta MG, et al.: Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation. J Clin Oncol 2007; 25: 5630–5 CrossRef MEDLINE
e16.Cerhan JR, Slager SL: Familial predisposition and genetic risk factors for lymphoma. Blood 2015; 126: 2265–73 CrossRef MEDLINE PubMed Central
e17.Marron JM, Joffe S: Ethical considerations in genomic testing for hematologic disorders. Blood 2017; 130: 460–5 CrossRef MEDLINE PubMed Central
e18.Qian M, Cao X, Devidas M, et al.: TP53 germline variations influence the predisposition and prognosis of B-cell acute lymphoblastic leukemia in children. J Clin Oncol 2018; 36: 591–9 CrossRef MEDLINE PubMed Central
e19.Green CL, Tawana K, Hills RK, et al.: GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. Br J Haematol 2013; 161: 701–5 CrossRef MEDLINE
e20.Spinner MA, Sanchez LA, Hsu AP, et al.: GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 2014; 123: 809–21 CrossRef MEDLINE PubMed Central
e21.Wouters BJ, Lowenberg B, Erpelinck-Verschueren CA, van Putten WL, Valk PJ, Delwel R: Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome. Blood 2009; 113: 3088–91 CrossRef MEDLINE PubMed Central
e22.Gaidzik VI, Teleanu V, Papaemmanuil E, et al.: RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia 2016; 30: 2160–8 CrossRef CrossRef MEDLINE
e23. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN: EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from lynch syndrome. Genet Med 2009; 11: 42–65 CrossRef MEDLINE PubMed Central
e24.Kloor M, Huth C, Voigt AY, et al.: Prevalence of mismatch repair-deficient crypt foci in lynch syndrome: a pathological study. Lancet Oncol 2012; 13: 598–606 CrossRef
e25.Syngal S, Brand RE, Church JM, et al.: ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110: 223–62; quiz 63.
e26.Jass JR, Smyrk TC, Stewart SM, Lane MR, Lanspa SJ, Lynch HT: Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 1994; 14: 1631–4 MEDLINE
e27.Ruschoff J, Roggendorf B, Brasch F, et al.: Molecular pathology in hereditary colorectal cancer. Recommendations of the collaborative German study group on hereditary colorectal cancer funded by the German Cancer Aid (Deutsche Krebshilfe). Pathologe 2004; 25: 178–92.
e28. Overman MJ, McDermott R, Leach JL, et al.: Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study. Lancet Oncol 2017; 18: 1182–91 CrossRef MEDLINE
e29.Spier I, Holzapfel S, Steinke V, Aretz S: Genetik gastrointestinaler Tumoren – Welche Folgen haben Keimbahnmutationen? Der Gastroenterologe 2013; 04/2013.
e30.Rau TT, Dawson H, Hartmann A, Ruschoff J: Hereditary colorectal cancer: an update on genetics and entities in terms of differential diagnosis. Pathologe 2017; 38: 156–63.
e31. Mavaddat N, Barrowdale D, Andrulis IL, et al.: Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2012; 21: 134–47 CrossRef MEDLINE PubMed Central
e32. Hahnen E, Rhiem K, Schmutzler R: Genpanelanalysen: Spannungsfeld zwischen kommerziellem Interesse und Patientennutzen. Dtsch Arztebl 2016; 113: A-2028 VOLLTEXT
e33.Zylka-Menhorn V: Familiärer Brustkrebs: Wie neue Brustkrebsgene zu bewerten sind. Dtsch Arztebl 2017; 114: A-894 VOLLTEXT
e34.Hartmann A: Pathologie familiärer Tumorsyndrome. Pathologe 2017; 38: 143–8 CrossRef MEDLINE