Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2623-2627

  Babovic, Nikola ^a   Simmons, Patricia S ^b   Moir, Christopher ^b   Thorland, Erik C ^b   Scheithauer, Bernd ^b   Gliem, Troy J ^b   Babovic vuksanovic, Dusica ^b  

^a MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

BMPR1A; Juvenile polyposis syndrome; Mucinous cystadenoma; PTEN

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME DELETION; CYSTADENOMA; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENDOSCOPIC SURGERY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; JUVENILE POLYP; MACROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIECTOMY; OVARY TUMOR; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; ADULT; CHROMOSOME 10; COLON POLYPOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; FACE; GENE DELETION; GENETICS; MALE; NEWBORN; ONSET AGE;

ADENOMATOUS POLYPOSIS COLI; ADULT; AGE OF ONSET; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTADENOMA, MUCINOUS; FACE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; OVARIAN NEOPLASMS; PHENOTYPE; SEQUENCE DELETION;

EID: 78349295658     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33637     Document Type: Article

References (18)

1. Arch E, Goodman B, Van Wesep R, Liaw D, Clarke K, Parsons R, McKusick V, Geraghty M. 1997. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 71: 489-493.
2. Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill B, Easterday M, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas G, Borg A, Valle D, Schimmenti L, Selleck S. 2007. Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 80: 938-947.
3. Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma Z, Laroche L, Gérard M, Longy M. 2007. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur J Hum Genet 15: 767-773.
4. Delnatte C, Sanlaville D, Mougenot J, Vermeesch J, Houdayer C, Blois M, Genevieve D, Goulet O, Fryns J, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. 2006. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 78: 1066-1074.
5. He X, Zhang J, Tong W, Tawfik O, Ross J, Scoville D, Tian Q, Zeng X, He X, Wiedemann L, Mishina Y, Li L. 2004. BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling. Nat Genet 36: 1117-1121.
6. Jacoby R, Schlack S, Sekhon G, Laxova R. 1997. Del(10)(q22.3q24.1) associated with juvenile polyposis. Am J Med Genet 70: 361-364.
7. Marsh D, Kum J, Lunetta K, Bennett M, Gorlin R, Ahmed S, Bodurtha J, Crowe C, Curtis M, Dasouki M, Dunn T, Feit H, Geraghty M, Graham JJ, Hodgson S, Hunter A, Korf B, Manchester D, Miesfeldt S, Murday V, Nathanson K, Parisi M, Pober B, Romano C, Eng C. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8: 1461-1472.
8. Menko F, Kneepkens C, de Leeuw N, Peeters E, Van Maldergem L, Kamsteeg E, Davidson R, Rozendaal L, Lasham C, Peeters-Scholte C, Jansweijer M, Hilhorst-Hofstee Y, Gille J, Heins Y, Nieuwint A, Sistermans E. 2008. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet 74: 145-154.
9. Sachatello C, Griffen WJ. 1975. Hereditary polypoid diseases of the gastrointestinal tract: A working classification. Am J Surg 129: 198-203.
10. Salviati L, Patricelli M, Guariso G, Sturniolo G, Alaggio R, Bernardi F, Zuffardi O, Tenconi R. 2006. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 79: 593-596.
11. Sri Paran T, Mortell A, Devaney D, Pinter A, Puri P. 2006. Mucinous cystadenoma of the ovary in perimenarchal girls. Pediatr Surg Int 22: 224-227.
12. Sweet K, Willis J, Zhou X, Gallione C, Sawada T, Alhopuro P, Khoo S, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior T, Frebourg T, Teh B, Marchuk D, Aaltonen L, Eng C. 2005. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. J Am Med Assoc 294: 2465-2473.
13. Tsuchiya K, Wiesner G, Cassidy S, Limwongse C, Boyle J, Schwartz S. 1998. Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. Genes Chromosomes Cancer 21: 113-118.
14. van Hattem W, Brosens L, de Leng W, Morsink F, Lens S, Carvalho R, Giardiello F, Offerhaus G. 2008. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 57: 623-627.
15. Vargas R, De la Torre L, Aparicio JM, Paniagua F, Lopez G, Garrido MA, Nuñez S. 2010. Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: A case report. Pediatr Dev Pathol (in press).
16. Waite K, Eng C. 2002. Protean PTEN: Form and function. Am J Hum Genet 70: 829-844.
17. Waite K, Eng C. 2003. BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum Mol Genet 12: 679-684.
18. Zigman A, Lavine J, Jones M, Boland C, Carethers J. 1997. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastoenterology 113: 1433-1437.