A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology

Volumn 108, Issue 3, 2009, Pages

  Balci, Sevim ^a   Engiz, Ozlem ^a   Otken, Gulsen ^b   Sipahier, Murat ^b   Gursu, Guler ^a   Kandemir, Bedri ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ONDOKUZ MAYIS UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

TP63 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; FATALITY; FOLLOW UP; FOOT MALFORMATION; GENETICS; HAND MALFORMATION; HUMAN; HYDRONEPHROSIS; INFANT; LARGE CELL LYMPHOMA; MALE; PATHOLOGY; SYNDROME; TOOTH MALFORMATION; URETER DISEASE;

CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; FATAL OUTCOME; FOLLOW-UP STUDIES; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; HYDRONEPHROSIS; INFANT; LYMPHOMA, LARGE B-CELL, DIFFUSE; MALE; SYNDROME; TOOTH ABNORMALITIES; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS; URETERAL DISEASES;

EID: 69049116161     PISSN: 10792104     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tripleo.2009.04.043     Document Type: Article

References (27)

1. Rüdiger R.A., Haase W., and Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate. Am J Dis Child 120 (1970) 160-163
2. Rodini E.S., and Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet 37 (1990) 42-53
3. Qumsiyeh M.B. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet 42 (1992) 101
4. Fukushima Y., Ohashi H., and Hasegawa T. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. Clin Genet 44 (1993) 50
5. O'Quinn J.R., Hennekam R.C.M., Jorde L.B., and Bamshad M. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet 61 Suppl (1997) A289
6. Celli J., Duijf P., Hamel B.C., Bamshad M., Kramer B., Smits A.P., et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99 (1999) 143-153
7. Ianakiev P., Kilpatrick M.W., Toudjarska I., Basel D., Beighton P., and Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67 (2000) 59-66
8. Wessagowit V., Mellerio J.E., Pembroke A.C., and McGrath J.A. Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. Clin Exp Dermatol 25 (2000) 441-443
9. Kosaki R., Ohashi H., Yoshihashi H., Suzuki T., and Kosaki K. A de novo mutation (R279C) in the p63 gene in a patient with EEC syndrome. Clin Genet 60 (2001) 314-315
10. Akahoshi K., Sakazume S., Kosaki K., Ohashi H., and Fukushima Y. EEC syndrome type 3 with a heterozygous germline mutation in the p63 and B cell lymphoma. Am J Med Genet 120A (2003) 370-373
11. Gershoni-Baruch R., Goldscher D., and Hochberg Z. Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. Am J Med Genet 68 (1997) 168-172
12. Balci{dotless} S., Tunçbilek E., Hazarli{dotless} G.G., Yildiz P., Shyr Y., and Edgerton M.E. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC). Özdemir Kardeşler Matbaaci{dotless}li{dotless}k, XXI Türk Pediatri Kongresi, İstanbul. Türk Pediatri Kurumu Yayi{dotless}nlari{dotless} 24 (1983) 523
13. Ogütcen-Toller M., Gulen O., Okten G., and Elbistan M. Non-Hodgkin's lymphoma in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 90 (2000) 124-125
14. Penchaszadeh V.B., and de Negrotti T.C. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: Dominant inheritance and variable expression. J Med Genet 13 (1976) 281-284
15. Maas S.M., de Jong T.P., Buss P., and Hennekam R.C. EEC syndrome and genitourinary anomalies: an update. Am J Med Genet 63 (1996) 472-478
16. Nardi A.C., Ferreira U., Netto Júnior N.R., Magna L.A., Rodini E.S., and Richieri-Costa A. Urinary tract involvement in EEC syndrome. A clinical study in 25 Brazilian patients. Am J Med Genet 44 (1992) 803-806
17. van Bokhoven H., Hamel B.C., Bamshad M., Sangiorgi E., Gurrieri F., Duijf P.H., et al. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69 (2001) 481-492
18. In: Taylor C.R., and Cote R.J. (Eds). Immunomicroscopy: a diagnostic tool for the surgical pathologist. 3rd ed. (2006), Saunders Elsevier, Philadelphia 117
19. Hallack Neto A.E., Siqueira S.A., Dulley F.L., Ruiz M.A., Chamone D.A., and Pereira J. p63 protein expression in high risk diffuse large B-cell lymphoma. J Clin Pathol 62 (2009) 77-79
20. Brunner H.G., Hamel B.C., and Van Bokhoven H. The p63 gene in EEC and other syndromes. J Med Genet 39 (2002) 377-381
21. Yang A., Schweitzer R., Sun D., et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398 (1999) 714-718
22. Yamaguchi K., Wu L., Caballero O.L., et al. Frequent gain of the p40/p51/p63 gene locus in primary head and neck squamous cell carcinoma. Int J Cancer 86 (2000) 684-689
23. Massion P.P., Taflan P.M., Jamshedur Rahman S.M., Charytonowicz E., Verbel D., Crum C.P., et al. Significance of p63 amplification and overexpression in lung cancer development and prognosis. Cancer Res 63 (2003) 7113-7121
24. Urist M.J., Di Como C.J., Lu M., et al. Loss of p63 expression is associated with tumor progression in bladder cancer. Am J Pathol 161 (2002) 1199-1206
25. Hedvat C.V., Teruya-Feldstein J., Puig P., Capodieci P., Dudas M., Pica N., et al. Expression of p63 in diffuse large B-cell lymphoma. Appl Immunohistochem Mol Morphol 13 (2005) 237-242
26. Stiewe T., Theseling C.C., and Pützer B.M. Transactivation-deficient Delta TAp73 inhibits p53 by direct competition for DNA binding: implications for tumorigenesis. J Biol Chem 277 (2002) 14177-14185
27. Flores E.R., Tsai K.Y., Crowley D., Sengupta S., Yang A., McKeon F., and Jacks T. P63 and p73 are required for p53-dependent apoptosis in response to DNA damage. Nature 416 (2002) 560-564