Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication?

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1759-1762

  Prunotto, Giulia ^a   Cianci, Paola ^a   Cereda, Anna ^a   Scatigno, Agnese ^a   Fossati, Chiara ^a   Maitz, Silvia ^a   Biondi, Andrea ^a   Selicorni, Angelo ^a  

^a SAN GERARDO HOSPITAL   (Italy)

Author keywords

4p syndrome; Hepatic adenoma; Wolf Hirschhorn syndrome

Indexed keywords

VALPROIC ACID;

ADULT; ARTICLE; CASE REPORT; CHOLESTASIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; DISEASE SEVERITY; DRUG EFFICACY; DYSPHAGIA; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEPATOMEGALY; HORSESHOE KIDNEY; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; KIDNEY DISEASE; LIVER ADENOMA; LIVER INJURY; MALE; MUSCLE HYPOTONIA; PELVICALIECTASIS DILATATION; PNEUMOMEDIASTINUM; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCOLIOSIS; SEIZURE; TREATMENT RESPONSE; TUMOR VOLUME; URINARY TRACT INFECTION; WOLF HIRSCHHORN SYNDROME;

ADENOMA; FEMALE; HUMANS; LIVER NEOPLASMS; MALE; WOLF-HIRSCHHORN SYNDROME; YOUNG ADULT;

EID: 84879461391     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35966     Document Type: Article

References (25)

1. Angrand P, Apiou F, Stewart A, Dutrillaux B, Losson R, Chambon P. 2001. NSD3, a new set domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Genomics 74:79-88.
2. Battaglia A, Filippi T, Carey JC. 2008. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C 48C:246-251.
3. Battaglia A, Carey JC, South ST, Wright TJ. 2010. Wolf-Hirschhorn Syndrome. April 29 [updated June 17, 2010]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle.
4. Batton B, Amanullah A, Main C, Fivenson D, Jamil S. 2004. Cutaneous T-cell lymphoma in a 21-year-old male with Wolf-Hirschhorn syndrome. Am J Med Genet Part A 127A:81-85.
5. Caseiro AF, Zins M, Mahfouz AE, Rahmouni A, Vilgrain V, Menu Y, Mathieu D. 1996. Calcification in focal nodular hyperplasia: A new problem for differentiation from fibrolamellar hepatocellular carcinoma. Radiology 198:889-892.
6. Chesi M, Brents LA, Ely SA, Bais C, Robbiani DF, Mesri EA, Kuehl WM, Bergsagel PL. 2001. Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma. Blood 97:729-736.
7. Cleary HJ, Boulton E, Plumb M. 1999. Allelic loss and promoter hypermethylation of the p15INK4b gene features in mouse radiation-induced lymphoid but not myeloid-leukemias. Leukemia 13:2049-2052.
8. Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G. 1993. Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. Am J Med Genet 47:921-924.
9. Farges O, Dokmak S. 2010. Malignant transformation of liver adenoma: An analysis of the literature. Dig Surg 27:32-38.
10. Herranz M, Santos J, Salido E, Fernandes-Piqueras J, Serrano M. 1999. Mouse p73 gene maps to the distal part of chromosome 4 and might be involved in the progression of gamma-radiation-induced T-cell lymphomas. Cancer Res 59:2068-2071.
11. Hirschhorn K, Cooper HL, Firschein IL. 1965. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1:479-482.
12. Jha P, Chawla SC, Tavri S, Patel C, Gooding C, Daldrup-Link H. 2009. Pediatric liver tumors-A pictorial review. Eur Radiol 19:209-219.
13. Okumoto M, Park YG, Song CW, Mori N. 1999. Frequent loss of heterozygosity on chromosomes 4, 12 and 19 in radiation-induced lymphomas in mice. Cancer Lett 135:223-228.
14. Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. 2001. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 99:338-342.
15. Seki A, Inoue T, Maegaki Y, Sugiura C, Toyoshima M, Akaboshi S, Ohno K. 2006. Polycystic ovary syndrome and hepatocellular adenoma related to long-term use of sodium valproate in a young woman. No To Hattatsu 38:205-208.
16. Sharathkumar A, Kirby M, Freedman M, Abdelhaleem M, Chitayat D, Teshima IE, Dror Y. 2003. Malignant hematological disorder in children with Wolf-Hirschhorn syndrome. Am J Med Genet Part A 119A:194-199.
17. So CW, Ma SK, Wan TS, Chan GC, Ha SY, Chan LC. 2000. Analysis of MLL-derived transcripts in infant acute monocytic leukemia with a complex translocation (1;11;4)(q21;q23;p16). Cancer Genet Cytogenet 117:24-27.
18. Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Hairingen A, Moorman AF, Altherr MR, den Dunnen JT. 1998. WHSC1, a 90kb set domain-containing gene, expressed in early development and homologous to a Drosophilia dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet 7:1071-1082.
19. Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. 2000. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion. Eur J Hum Genet 8:519-526.
20. Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. 1981. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del4p)] Hum Genet 59:297-307.
21. Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H. 1965. Deficiency on the short arms of a chromosome No. 4. Humangenetik 1:397-413.
22. Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR. 1997. A transcript map of the newly defined 165kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6:317-324.
23. Wright TJ, Costa JL, Naranjo C, Francis-West P, Altherr MR. 1999. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region. Genomics 59:203-212.
24. Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94:254-261.
25. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72:590-597.