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Case Reports
. 2006 Sep;79(3):593-6; author reply 596-7.
doi: 10.1086/507151.

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy

Leonardo Salviati, Mariagrazia Patricelli, Graziella Guariso, Giacomo Carlo Sturniolo, Rita Alaggio, Franca Bernardi, Orsetta Zuffardi, Romano Tenconi
Case Reports

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy

Leonardo Salviati et al. Am J Hum Genet. 2006 Sep.
No abstract available

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Figures

Figure  1.
Figure  1.
Histology of resected polyps. Hematoxylin and eosin stain is shown at 50× (A and C) and 200× (B and D) magnification. A, Sessile-peduncolated lesion with features of a typical juvenile polyp, characterized by large cysts containing mucus. B, Area with atypical epithelium in the head of the lesion. C, Another polypoid lesion with features of juvenile polyp. D, Proliferation of gangliar cells in the lamina propria.
Figure  2.
Figure  2.
FISH analysis. Probes RP11-36D19 (A), RP11-74B2 (B), and RP11-469M1 (C) show weaker signals at the breakpoints (A and C) and absence of signal on del(10) (B). Short arrow = normal chromosome 10; long arrow = del(10).
Figure  3.
Figure  3.
Schematic representation of the 10q22-10q23 deletion in our patient (A), in patients 1 (B) and 2 (C) reported by Delnatte et al., and in the patient (D) reported by Tsuchiya et al.
See this image and copyright information in PMC

Comment on

References

Web Resources

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for juvenile polyposis syndrome, CS, Bannayan-Riley-Ruvalcaba syndrome, and autoimmune lymphoproliferative syndrome)
    1. UCSC Genome Browser (May 2004), http://genome.ucsc.edu/

References

    1. Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, de Blois MC, Genevieve D, Goulet O, Fryns JP, 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 - PMC - PubMed
    1. Sachatello CR, Griffen WO Jr (1975) Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am J Surg 129:198–203 10.1016/0002-9610(75)90298-6 - DOI - PubMed
    1. Merg A, Howe JR (2004) Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet C Semin Med Genet 129:44–55 10.1002/ajmg.c.30020 - DOI - PubMed
    1. Tsuchiya KD, Wiesner G, Cassidy SB, Limwongse C, Boyle JT, 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 10.1002/(SICI)1098-2264(199802)21:2<113::AID-GCC6>3.0.CO;2-3 - DOI - PubMed
    1. Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK (1995) Juvenile polyposis. Br J Surg 82:14–17 - PubMed

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