Emberger sndrome - Primary lymphedema with myelodysplasia: Report of seven new cases

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2287-2296

  Mansour, Sahar ^a   Connell, Fiona ^a   Steward, Colin ^b   Ostergaard, Pia ^a   Brice, Glen ^a   Smithson, Sarah ^c   Lunt, Peter ^c   Jeffery, Steve ^a   Dokal, Inderjeet ^d   Vulliamy, Tom ^d   Gibson, Brenda ^e   Hodgson, Shirley ^a   Cottrell, Sally ^a   Kiely, Louise ^a   Tinworth, Lorna ^a   Kalidas, Kamini ^a   Mufti, Ghulam ^f   Cornish, Jackie ^b   Keenan, Russell ^g   Mortimer, Peter ^a   Murday, Victoria ^e   more..

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b Royal Hospital for Children   (United Kingdom)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f KING S COLLEGE HOSPITAL   (United Kingdom)

^g ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Acute myeloid leukaemia; Monosomy 7; Myelodysplasia; Primary lymphedema

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CELLULITIS; CHILD; CLINICAL ARTICLE; EMBERGER SYNDROME; EPICANTHUS; FEMALE; GENETIC DISORDER; HUMAN; HYPOTELORISM; LYMPHEDEMA; MALE; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; PANCYTOPENIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SCHOOL CHILD; VERRUCA VULGARIS; WEBBED NECK; CASE REPORT; CHROMOSOME 7; CONGENITAL MALFORMATION; GENETICS; GENITAL SYSTEM; INFANT; LEG MALFORMATION; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENITALIA; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA, MYELOID, ACUTE; LOWER EXTREMITY DEFORMITIES, CONGENITAL; LYMPHEDEMA; MALE; MONOSOMY; MYELODYSPLASTIC SYNDROMES; YOUNG ADULT;

EID: 77956125394     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33445     Document Type: Article

References (50)

1. Adams RH, Alitalo K. 2007. Molecular regulation of angiogenesis and lymphangiogenesis. Nat Rev Mol Cell Biol 8:464-478.
2. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. 2005. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 102:15960-15964. (Pubitemid 41552850)
3. Attal M, Hughet F, Nouvel CH, Dastugue N, Laurent G, Duchayne E, Pris J. 1985. Association lymphoedema idiopathique et leucémie aigue familiale. Presse Méd 14:600.
4. Bardelli M, Leucci E, Schürfeld K, Bellan C, Passiatore G, Rocchigiani M, Bartolommei S, Orlandini M, Zagursky J, Lazzi S, De Falco G, Tosi P, Oliviero S, Leoncini L. 2007. VEGF-D is expressed in activated lymphoid cells and in tumors of hematopoietic and lymphoid tissues. Leuk Lymphoma 48:2014-2221.
5. Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. 2008. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions. Eur J Hum Genet 16:1014-1018.
6. Carroll WL, Morgan R, Glader BE. 1985. Childhood bone marrow monosomy 7 syndrome: A familial disorder? J Pediatr 107:578-580.
7. Chitambar CR, Robinson WA, Glode LM. 1983. Familial leukemia and aplastic anemia associated with monosomy 7. Am J Med 75:756-762.
8. Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A. 1999. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol 21:523-527.
9. Diaz GA. 2005. CXCR4 mutations in WHIM syndrome: A misguided immune system? Immunol Rev 203:235-243.
10. Drony S, Bauters F, Bartel B, Moriseau M, Sarpzin C. 1983. Deux observations familiales d'éléphantiasis congénital avec leucémie aigue myeloide. Nouv Pres Fr Hemat 25:184.
11. Emberger JM, Navarro M, Dejean M, Izarn P. 1979. Surdimutité, lymphoedema des membres inferieurs et anomalies hématologiques (leucose aïgue, cytopénies) à transmission autosomique dominante. J Genet Hum 27:237-245.
12. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. 2000. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedemadistichiasis syndrome. Am J Hum Genet 67:1382-1388.
13. Gaillard S, Bordessoule D, Malinvaud G, Verger Cl. 1983. Dyshématopoïèse préleucemique et lymphoedeme congénital. Nouv Pres Fr Hémat 25:184.
14. Gulino AV. 2003. WHIM syndrome: A genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol 3:443-450.
15. Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R. 2004. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 104:444-452.
16. Harada H, Harada Y, Niimi H, Kyo T, Kimura A, Inaba T. 2004. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood 103:2316-2324. (Pubitemid 38326252)
17. Hayashi H, Kume T. 2008. Forkhead transcription factors regulate expression of the chemokine receptor CXCR4 in endothelial cells and CXCL12- induced cell migration. Biochem Biophys Res Commun 367:584-589.
18. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA. 2003. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunode- ficiency disease. Nat Genet 34:70-74.
19. Horwitz M. 1997. The genetics of familial leukemia. Leukemia 11: 1347-1359.
20. Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. 2000. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 67:295-301.
21. Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. 2003. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis- lymphedema-telangiectasia. Am J Hum Genet 72: 1470-1478.
22. Kaur J, Catovsky D, Valdimarsson H, Jensson O, Spiers ASD. 1972. Familial acute myeloid leukaemia with acquired Pelger-Huët anomaly and aneuploidy of C group. BMJ 4:327-331.
23. Kawai T, Malech HL. 2009. WHIM syndrome: Congenital immune deficiency disease. Curr Opin Hematol 16:20-26.
24. Kowanetz M, Ferrara N. 2006. Vascular endothelial growth factor signaling pathways: Therapeutic perspective. Clin Cancer Res 12:5018-5022. (Pubitemid 44453326)
25. Kreuter A, Hochdorfer B, Brockmeyer NH, Altmeyer P, Pfister H, Wieland U. 2008. A human papillomavirus-associated disease with disseminated warts, depressed cell-mediated immunity, primary lymphedema, and anogenital dysplasia: WILD syndrome. Arch Dermatol 144:366-372.
26. Larsen WE, Schimke RN. 1976. Familial acute myelogenous leukaemia with associated C-monosomy in two affected members. Cancer 38:841-845.
27. Le Beau MM, Albain KS, Larson RA, Vardiman JW, Davis EM, Blough RR, Golomb HM, Rowley JD. 1986. Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: Further evidence for characteristic abnormalities of chromosomes no. 5 and 7. J Clin Oncol 4:325-345.
28. Lucas GS, West RR, Jacobs A. 1989. Familial myelodysplasia. BMJ 26:299 551.
29. Luna-Fineman S, Shannon KM, Lange BJ. 1995. Childhood monosomy 7: Epidemiology, biology, and mechanistic implications. Blood 85: 1985-1999.
30. Maserati E, Minelli A, Menna G, Cecchini MP, Bernardo ME, Rossi G, De Filippi P, Lo Curto F, Danesino C, Locatelli F, Pasquali F. 2004. Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet 148:155-158.
31. Merks JH, Caron HN, Hennekam RC. 2005. High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet Part A 134A:132-143.
32. Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C. 2001. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet 124: 147-151.
33. Nakao M, Yokota S, Iwai T, Kaneko H, Horiike S, Kashima K, Sonoda Y, Fujimoto T, Misawa S. 1996. Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia 10:1911-1918.
34. Niimi H, Harada H, Harada Y, Ding Y, Imagawa J, Inaba T, Kyo T, Kimura A. 2006. Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations. Leukemia 20: 635-644.
35. Ostrow RS, Manias D, Mitchell AJ, Stawowy L, Faras AJ. 1987. Epidermodysplasia verruciformis. A case associated with primary lymphatic dysplasia, depressed cell-mediated immunity, and Bowen's disease containing human papillomavirus 16 DNA. Arch Dermatol 123:1511-1516.
36. Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon MC, Sinclair GD, Leber B, Johnson PR, Macheta A, Yin JA, Barnett MJ, Lister TA, Fitzgibbon J. 2008a. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 12:4639-4645.
37. OwenC, Barnett M, Fitzgibbon J. 2008b. Familial myelodysplasia and acute myeloid leukaemia - A review. Br J Haematol 140:123-132. (Pubitemid 350265048)
38. Padua RA, McGlynn A, McGlynn H. 2001. Molecular, cytogenetic and genetic abnormalities in MDS and secondary AML. Cancer Treat Res 108:111-157.
39. Paul B, Reid MM, Davison EV, Abela M, Hamilton PJ. 1987. Familial myelodysplasia: Progressive disease associated with emergency of monosomy 7. Br J Haematol 65:321-323.
40. Porta G, Maserati E, Mattarucchi E, Minelli A, Pressato B, Valli R, Zecca M, Bernardo ME, Lo Curto F, Locatelli F, Danesino C, Pasquali F. 2007. Monosomy 7 in myeloid malignancies: Parental origin and monitoring by real-time quantitative PCR. Leukemia 21:1833-1835.
41. Shannon KM, Turhan AG, Chang SS, Bowcock AM, Rogers PC, Carroll WL, Cowan MJ, Glader BE, Eaves CJ, Eaves AC, Wai Kan Y. 1989. Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. J Clin Invest 84: 984-989.
42. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. 2004. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351:2403-2407. (Pubitemid 40500184)
43. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG. 1999. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23:166-175.
44. Vulliamy T, Dokal I. 2006. Dyskeratosis congenita. Semin Hematol 43: 157-166.
45. Vulliamy TJ, Dokal I. 2008. Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex. Biochimie 90: 122-130. (Pubitemid 350216210)
46. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. 2001. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413:432-435. (Pubitemid 32928599)
47. Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. 2005. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 34:257-263.
48. Wetzler M, Talpaz M, Kleinerman ES, King A, Huh YO, Gutterman JU, Kurzrock R. 1990. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med 89:663-672.
49. Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG. 1987. Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 27:841-856.
50. Zuelzer WW. 1964. "Myelokathexis" - A new form of chronic granulocytopenia. Report of a case. N Engl J Med 270:699-704.