Advertisement

Child's Nervous System

, Volume 31, Issue 1, pp 141–146 | Cite as

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study

  • Fernando Chico-Ponce de León
  • Luis F. Gordillo-Domínguez
  • Vicente González-Carranza
  • Samuel Torres-García
  • Constanza García-Delgado
  • Adriana Sánchez-Boiso
  • Francisco Arenas-Huertero
  • Mario Perezpeña-Diazconti
  • Pilar Eguía-Aguilar
  • César Baqueiro-Hernández
  • Guillermo Buenrostro-Márquez
  • Sonia Martínez-Rodríguez
  • Patrick Dhellemmes
  • Eduardo Castro-Sierra
Case Report

Abstract

Purpose

A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City.

Methods and results

Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome’s Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus.

Discussion

Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.

Keywords

Brachmann-Cornelia de Lange syndrome Choroid plexus papilloma ALOX15 MYBBP1A 

Notes

Acknowledgments

We would like to thank Graham Snudden for his intervention in the array CGH studies carried out at BlueGnome’s Laboratory in Cambridge, UK, as well as David Chrimes and Jessica Massie for their participation in the corresponding analyses, and the latter for her critical review of this manuscript. The human studies included in the manuscript were approved by the Committees of Research, Ethics and Biosafety of Hospital Infantil de México Federico Gómez in accordance to standards set down in the 1964 Declaration of Helsinki and its later amendments. Moreover, parents of the subject of this study gave their informed consent prior to the inclusion of their child and themselves in the study.

Conflict of interest

There were no potential sources of conflict of interest.

References

  1. 1.
    Beck B (1976) Epidemiology of Cornelia de Lange syndrome. Acta Paediatr Scand 65:631–638PubMedCrossRefGoogle Scholar
  2. 2.
    Boers JE, Meeuwissen H, Methorst N (2011) HER2 status in gastro-oesophageal adenocarcinomas assessed by two rabbit monoclonal antibodies (SP3 and 4B5) and two in situ hybridization methods (FISH and SISH). Histopathology 58:383–394PubMedCentralPubMedCrossRefGoogle Scholar
  3. 3.
    Bredel M, Pollack IF, Hamilton RL, James CD (1999) Epidermal growth factor receptor expression and gene amplification in high-grade non-brain stem gliomas of childhood. Clin Cancer Res 5:1786–1792PubMedGoogle Scholar
  4. 4.
    Casas-Delucchi CS, van Bemmel JG, Haase S, Herce HD, Nowak D, Meilinger D, Stear JH, Leonhardt H, Cardoso MC (2012) Histone hypoacetylation is required to maintain late replication timing of constitutive heterochromatin. Nucleic Acids Res 40:159–169PubMedCentralPubMedCrossRefGoogle Scholar
  5. 5.
    De Armas R, Durand K, Guilleaudau A, Weinbreck N, Robert S, Moreau JJ, Caire F, Acosta G, Pebet M, Chaunavel A, Marin B, Labrousse F, Denizot Y (2010) mRNA levels of enzymes and receptors implicated in arachidonic acid metabolism in gliomas. Clin Biochem 43:827–835PubMedCrossRefGoogle Scholar
  6. 6.
    García-García E, Gómez-Martín C, Angulo B, Conde E, Suárez-Gauthier A, Adrados M, Perna C, Rodríguez-Peralto JL, Hidalgo M, López-Ríos F (2011) Hybridization for human epidermal growth factor receptor 2 testing in gastric carcinoma: a comparison of fluorescence in situ hybridization with a novel fully automated dual-colour silver in situ hybridization method. Histopathology 59:8–17PubMedCentralPubMedCrossRefGoogle Scholar
  7. 7.
    Kim HW, Rao JS, Rapoport SI, Igarashi M (2011) Dietary N6 PUFA deprivation downregulates arachidonate but upregulates docosahexaenoate metabolizing enzymes in rat brain. Biochem Biophys Acta 1811:111–117PubMedCentralPubMedGoogle Scholar
  8. 8.
    Lee S, Kim Y, Sum JM, Choi YL, Kim JG, Shim YM, Park YH, Ahn JS, Park K, Han JH, Ahn MJ (2011) Molecular profiles of EGFR, K-ras, s-met and FGFR in pulmonary pleomorphic carcinoma, a rare lung malignancy. J Cancer Res Clin Oncol 137:1203–1211PubMedCentralPubMedCrossRefGoogle Scholar
  9. 9.
    Lee S, Jung W, Hong SW, Koo JS (2011) Evaluation of intratumoral HER-2 heterogeneity by fluorescence in situ hybridization in invasive breast cancer: a single institution study. J Korean Med Sci 26:1001–1006PubMedCentralPubMedCrossRefGoogle Scholar
  10. 10.
    McKusick V, Dolan S (2004) Cornelia de Lange syndrome; CDLS. OMIM. [online] 14 July 2004. URL available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470
  11. 11.
    Smith M, Herrell S, Lusher M, Lako L, Simpson C, Wiestner A, Skoda R, Ireland M, Strachan T (1999) Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Hum Genet 105:104–111PubMedCrossRefGoogle Scholar
  12. 12.
    Steichen-Gersdorf E, Trawöger R, Duba HC, Mayr U, Felber S, Utermann G (1993) Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). Hum Genet 90:611–613PubMedCrossRefGoogle Scholar
  13. 13.
    Sugita K, Izumi T, Yamaguchi K, Fukuyama K, Sato A, Kajita A (1986) Cornelia de Lange syndrome associated with a suprasellar germinoma. Brain Dev 8:541–546PubMedCrossRefGoogle Scholar
  14. 14.
    Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636–641PubMedCrossRefGoogle Scholar
  15. 15.
    Zajac V, Kirchhoff T, Levy ER, Horsley SW, Miller A, Steichen-Gersdorf E, Monaco AP (1997) Characterisation of X ;17(q12;p13.1) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. Eur J Hum Genet 5:61–68PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Fernando Chico-Ponce de León
    • 1
  • Luis F. Gordillo-Domínguez
    • 1
  • Vicente González-Carranza
    • 1
  • Samuel Torres-García
    • 1
  • Constanza García-Delgado
    • 2
  • Adriana Sánchez-Boiso
    • 2
  • Francisco Arenas-Huertero
    • 3
  • Mario Perezpeña-Diazconti
    • 4
  • Pilar Eguía-Aguilar
    • 4
  • César Baqueiro-Hernández
    • 5
  • Guillermo Buenrostro-Márquez
    • 5
  • Sonia Martínez-Rodríguez
    • 6
  • Patrick Dhellemmes
    • 7
  • Eduardo Castro-Sierra
    • 8
  1. 1.Department of NeurosurgeryHospital Infantil de México Federico GómezMéxicoMexico
  2. 2.Department of GeneticsHospital Infantil de México Federico GómezMéxicoMexico
  3. 3.Research Laboratory on Experimental PathologyHospital Infantil de México Federico GómezMéxicoMexico
  4. 4.Department of PathologyHospital Infantil de México Federico GómezMéxicoMexico
  5. 5.Unit for Research on Neural DevelopmentHospital Infantil de México Federico GómezMéxicoMexico
  6. 6.Department of Social WorkHospital Infantil de México Federico GómezMéxicoMexico
  7. 7.Centre Hospitalier UniversitaireUniversité de LilleLilleFrance
  8. 8.Laboratory of Psychoacoustics and Auditory PhysiologyHospital Infantil de México Federico GómezMéxicoMexico

Personalised recommendations