PTEN hamartoma of soft tissue: A distinctive lesion in PTEN syndromes

American Journal of Surgical Pathology

Volumn 36, Issue 5, 2012, Pages 671-687

  Kurek, Kyle C ^a,f   Howard, Emily ^a   Tennant, L B ^a   Upton, Joseph ^f   Alomari, Ahmad I ^b,f   Burrows, Patricia E ^b,f   Chalache, Kim ^f   Harris, David J ^c,f   Trenor, Cameron C ^a,f   Eng, Charis ^g   Fishman, Steven J ^a,d   Mulliken, John B ^a,e   Perez Atayde, Antonio R ^a   Kozakewich, Harry P W ^a,f  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Ege University School of Medicine   (Turkey)

^c Departments of Medicine   (United States)

^d Departments of Surgery   (United States)

^e Departments of Plastic Surgery   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

arteriovenous; Bannayan Riley Ruvalcaba; children; Cowden; hamartoma; hemangioma; lipoma; malformation; PTEN; vascular

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PTEN PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; CHILD; CONGENITAL TUMOR; FEMALE; GENETIC MARKER; GENETICS; HUMAN; MALE; PATHOLOGY; PRESCHOOL CHILD; SKELETAL MUSCLE; SOFT TISSUE TUMOR;

ADOLESCENT; ADULT; ARTERIOVENOUS MALFORMATIONS; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC MARKERS; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MUSCLE, SKELETAL; PTEN PHOSPHOHYDROLASE; SOFT TISSUE NEOPLASMS; YOUNG ADULT;

EID: 84859920656     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31824dd86c     Document Type: Article

References (61)

1. Allen PW, Enzinger FM. Hemangioma of skeletal muscle. An analysis of 89 cases. Cancer. 1972;29:8-22.
2. Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. 1971;92:1-5.
3. Beham A, Fletcher CD. Intramuscular angioma: a clinicopathological analysis of 74 cases. Histopathology. 1991;18:53-59.
4. Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010;304:2724-2731.
5. Berenguer B, Mulliken JB, Enjolras O, et al. Rapidly involuting congenital hemangioma: clinical and histopathologic features.Pediatr Dev Pathol. 2003;6:495-510. (Pubitemid 38018665)
6. Caux F, Plauchu H, Chibon F, et al. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur J Hum Genet. 2007;15:767-773. (Pubitemid 46965410)
7. Chow LM, Baker SJ. PTEN function in normal and neoplastic growth. Cancer Lett. 2006;241:184-196. (Pubitemid 44163047)
8. Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A. 2003; 122A:323-324. (Pubitemid 37259572)
9. Cviko A, Klingensmith W, Calicchio M, et al. HMGA2 immunoreactivity in pediatric lipomatous tumors (Abstract). Mod Pathol. 2009;22:322.
10. Ekinci S, Karnak I, Balci S, et al. Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. Eur J Pediatr Surg. 2006;16:209-213. (Pubitemid 44146822)
11. Engelstad BL, Gilula LA, Kyriakos M. Ossified skeletal muscle hemangioma: radiologic and pathologic features. Skeletal Radiol.1980;5:35-40. (Pubitemid 10164277)
12. Enjolras O, Mulliken JB, Boon LM, et al. Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly. Plast Reconstr Surg. 2001;107:1647-1654. (Pubitemid 32577769)
13. Erkek E, Hizel S, Sanly C, et al. Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. J Am AcadDermatol. 2005;53:639-643. (Pubitemid 41399932)
14. Fargnoli MC, Orlow SJ, Semel-Concepcion J, et al. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. ArchDermatol. 1996;132:1214-1218. (Pubitemid 26343970)
15. Furgeson SB, Simpson PA, Park I, et al. Inactivation of the tumour suppressor, PTEN, in smooth muscle promotes a pro-inflammatory phenotype and enhances neointima formation. Cardiovasc Res. 2010;86:274-282.
16. Gonzalez-Crussi F, Enneking WF, Arean VM. Infiltrating angiolipoma. J Bone Joint Surg Am. 1966;48:1111-1124.
17. Gorlin RJ, Cohen MM Jr, Condon LM, et al. Bannayan-Riley- Ruvalcaba syndrome. Am J Med Genet. 1992;44:307-314.
18. Greene AK, Perlyn CA. Clinics in Plastic Surgery. Philadelphia: W.B. Saunders Co.; 2011.
19. Gujrati M, Thomas C, Zelby A, et al. Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature. Surg Neurol. 1998;50:164-168. (Pubitemid 28360030)
20. Hamada K, Sasaki T, Koni PA, et al. The PTEN/PI3K pathway governs normal vascular development and tumor angiogenesis. Genes Dev. 2005;19:2054-2065. (Pubitemid 41247962)
21. Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. 1995; 32:117-119.
22. Hayashi Y, Ohi R, Tomita Y, et al. Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas. J Pediatr Surg. 1992;27:722-723.
23. Hein KD, Mulliken JB, Kozakewich HP, et al. Venous malformations of skeletal muscle. Plast Reconstr Surg. 2002;110:1625-1635. (Pubitemid 35470439)
24. Hernando E, Charytonowicz E, Dudas ME, et al. The AKT-mTOR pathway plays a critical role in the development of leiomyosarcomas. Nat Med. 2007;13:748-753. (Pubitemid 46889749)
25. Higginbottom MC, Schultz P. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. Pediatrics. 1982;69:632-634. (Pubitemid 12155939)
26. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009;11:687-694.
27. Howard EL, Tenant LB, Upton J, et al. PTEN-associated vascular anomaly (abstract). Mod Pathol. 2005;18:301.
28. Howat AJ, Campbell PE. Angiomatosis: a vascular malformation of infancy and childhood. Report of 17 cases. Pathology. 1987;19: 377-382. (Pubitemid 18009089)
29. Hsieh SC, Chen NT, Lo SH. Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation. Mol Carcinog. 2009;48:545-552.
30. Jennings WC, Say B. Steroid treatment of soft-tissue tumors in Bannayan syndrome. Plast Reconstr Surg. 1988;82:362-363.
31. Klein JA, Barr RJ. Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions. Pediatr Dermatol. 1990;7:48-53. (Pubitemid 20248691)
32. Lacey JV Jr, Mutter GL, Ronnett BM, et al. PTEN expression in endometrial biopsies as a marker of progression to endometrial carcinoma. Cancer Res. 2008;68:6014-6020.
33. Lesma E, Sirchia SM, Ancona S, et al. The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipomaderived smooth muscle cells. Am J Pathol. 2009;174:2150-2159.
34. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997;16:64-67. (Pubitemid 27198157)
35. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan- Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998;7:507-515. (Pubitemid 28120643)
36. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461-1472. (Pubitemid 29374079)
37. Miles JH, Zonana J, McFarlane J, et al. Macrocephaly with hamartomas: Bannayan-Zonana syndrome. Am J Med Genet. 1984;19:225-234. (Pubitemid 15209869)
38. Moon SK, Kim HM, Kim CH. PTEN induces G1 cell cycle arrest and inhibits MMP-9 expression via the regulation of NF-kappaB and AP-1 in vascular smooth muscle cells. Arch Biochem Biophys. 2004;421:267-276.
39. Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg. 2000;37:517-584.
40. Naidich JJ, Rofsky NM, Rosen R, et al. Arteriovenous malformation in a patient with Bannayan-Zonana syndrome. Clin Imaging. 2001;25:130-132. (Pubitemid 32727707)
41. Nho RS, Xia H, Diebold D, et al. PTEN regulates fibroblast elimination during collagen matrix contraction. J Biol Chem.2006;281:33291-33301. (Pubitemid 46036712)
42. Ni Y, Zbuk KM, Sadler T, et al. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-likesyndromes. Am J Hum Genet. 2008;83:261-268.
43. Niida Y, Stemmer-Rachamimov AO, Logrip M, et al. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet. 2001;69:493-503. (Pubitemid 32777689)
44. Nuss DD, Aeling JL, Clemons DE, et al. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. 1978;114:743-746. (Pubitemid 8331234)
45. Orloff MS, Eng C. Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene. 2008;27: 5387-5397.
46. Palencia R, Ardura J. Bannayan syndrome with intracranial arteriovenous malformations. An Esp Pediatr. 1986;25:462-466.
47. Pore N, Liu S, Haas-Kogan DA, et al. PTEN mutation and epidermal growth factor receptor activation regulate vascular endothelial growth factor (VEGF) mRNA expression in human glioblastoma cells by transactivating the proximal VEGF promoter. Cancer Res. 2003;63:236-241. (Pubitemid 36070445)
48. Rao VK, Weiss SW. Angiomatosis of soft tissue. An analysis of the histologic features and clinical outcome in 51 cases. Am J Surg Pathol. 1992;16:764-771.
49. Riley HD, Smith WR. Macrocephaly, pseudopapilledema, and multiple hemangiomata: a previously undescribed heredofamilialsyndrome. Pediatrics. 1960;26:293-300.
50. Sansal I, Sellers WR. The biology and clinical relevance of the PTEN tumor suppressor pathway. J Clin Oncol. 2004;22:2954-2963. (Pubitemid 41079915)
51. Sharabi SE, Koshy JC, Hollier LH Jr. Multiple, recurrent, refractory vascular malformations as the primary presenting featureof a PTEN mutation. Pediatr Dermatol. 2011;28:466-467.
52. Tan MH, Mester J, Peterson C, et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011;88:42-56.
53. Tan WH, Baris HN, Burrows PE, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications fordiagnosis and management. J Med Genet. 2007;44:594-602. (Pubitemid 47441769)
54. Tews DS, Goebel HH, Heffner RR, et al. Hamartoma of the triceps surae muscle. Acta Neuropathol. 1997;94:91-94. (Pubitemid 27289108)
55. Turnbull MM, Humeniuk V, Stein B, et al. Arteriovenous malformations in Cowden syndrome. J Med Genet. 2005;42:e50.
56. Weary PE, Gorlin RJ, Gentry WC Jr, et al. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. 1972;106:682-690.
57. White ES, Atrasz RG, Hu B, et al. Negative regulation of myofibroblast differentiation by PTEN (phosphatase and tensin homolog deleted on chromosome 10). Am J Respir Crit Care Med. 2006;173:112-121. (Pubitemid 43069796)
58. Yang G, Sun Q, Teng Y, et al. PTEN deficiency causes dyschondroplasia in mice by enhanced hypoxia-inducible factor1alpha signaling and endoplasmic reticulum stress. Development. 2008;135:3587-3597.
59. Zhou XP, Marsh DJ, Hampel H, et al. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet. 2000;9:765-768. (Pubitemid 30162760)
60. Zhou XP, Waite KA, Pilarski R, et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003;73:404-411. (Pubitemid 36921003)
61. Zundel W, Schindler C, Haas-Kogan D, et al. Loss of PTEN facilitates HIF-1-mediated gene expression. Genes Dev.2000;14:391-396. (Pubitemid 30131884)