Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis

American Journal of Respiratory and Critical Care Medicine

Volumn 182, Issue 11, 2010, Pages 1410-1418

  Cai, Xiong ^a   Pacheco Rodriguez, Gustavo ^a   Fan, Qing Yuan ^a,c   Haughey, Mary ^a   Samsel, Leigh ^a   El Chemaly, Souheil ^a   Wu, Hai Ping ^a   McCoy, J Philip ^a   Steagall, Wendy K ^a   Lin, Jing Ping ^a   Darling, Thomas N ^b   Moss, Joel ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b Uniformed Services University of the Health Sciences   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

CD44v6; CD9; Loss of heterozygosity; Lymphangioleiomyomatosis; Metastasis

Indexed keywords

CD44V ANTIGEN; CD9 ANTIGEN; CELL SURFACE MARKER;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD; BLOOD SAMPLING; BODY FLUID; CELL POPULATION; CHYLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LOCUS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; LUNG DISEASE; LUNG LAVAGE; LYMPHANGIOLEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PULMONARY LYMPHANGIOLEIOMYOMATOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPORADIC LYMPHANGIOLEIOMYOMATOSIS; TUBEROUS SCLEROSIS COMPLEX; URINE;

BIOLOGICAL MARKERS; BRONCHOALVEOLAR LAVAGE FLUID; CHYLE; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; LYMPHANGIOLEIOMYOMATOSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ARRAY ANALYSIS; REPRODUCIBILITY OF RESULTS; TUMOR SUPPRESSOR PROTEINS;

EID: 78649866576     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201003-0489OC     Document Type: Article

References (48)

1. Taveira-DaSilva AM, Steagall WK, Moss J. Lymphangioleiomyomatosis. Cancer Contr 2006;13:276-285.
2. Urban T, Lazor R, Lacronique J, Murris M, Labrune S, Valeyre D, Cordier JF. Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'etudes et de recherche sur les maladies "Orphelines" Pulmonaires (germ"O"P). Medicine (Baltimore) 1999;78:321-337.
3. McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest 2008;133:507-516.
4. Johnson SR, Tattersfield AE. Lymphangioleiomyomatosis. Semin Respir Crit Care Med 2002;23:85-92.
5. Glasgow CG, Taveira-Dasilva AM, Darling TN, Moss J. Lymphatic involvement in lymphangioleiomyomatosis. Ann N Y Acad Sci 2008;1131:206-214.
6. McCormack FX. Lymphangioleiomyomatosis. MedGenMed 2006;8:15.
7. Moss J, Avila NA, Barnes PM, Litzenberger RA, Bechtle J, Brooks PG, Hedin CJ, Hunsberger S, Kristof AS. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001;164:669-671.
8. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000;75:591-594. (Pubitemid 30395921)
9. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-808. (Pubitemid 27366729)
10. Consortium TECTS. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-1315.
11. Povey S, Burley MW, Attwood J, Benham F, Hunt D, Jeremiah SJ, Franklin D, Gillett G, Malas S, Robson EB, et al. Two loci for tuberous sclerosis: One on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107-127.
12. Smolarek TA, Wessner LL, McCormack FX, Mylet JC, Menon AG, Henske EP. Evidence that lymphangiomyomatosis is caused by TSC2 mutations: Chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet 1998;62:810-815.
13. Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000;97:6085-6090. (Pubitemid 30367527)
14. Yu J, Astrinidis A, Henske EP. Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. Am J Respir Crit Care Med 2001;164:1537-1540.
15. Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. J Hum Genet 2002;47:20-28.
16. Knudson AG. Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol 1996;122:135-140.
17. Karbowniczek M, Astrinidis A, Balsara BR, Testa JR, Lium JH, Colby TV, McCormack FX, Henske EP. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med 2003;167:976-982.
18. Bittmann I, Rolf B, Amann G, Lohrs U. Recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis. Hum Pathol 2003;34:95-98.
19. Crooks DM, Pacheco-Rodriguez G, DeCastro RM, McCoy JP Jr, Wang JA, Kumaki F, Darling T, Moss J. Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2004;101:17462-17467.
20. Kumasaka T, Seyama K, Mitani K, Souma S, Kashiwagi S, Hebisawa A, Sato T, Kubo H, Gomi K, Shibuya K, et al. Lymphangiogenesis-mediated shedding of LAM cell clusters as a mechanism for dissemination in lymphangioleiomyomatosis. Am J Surg Pathol 2005;29:1356-1366.
21. Pacheco-Rodriguez G, Steagall WK, Crooks DM, Stevens LA, Hashimoto H, Li S, Wang JA, Darling TN, Moss J. TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. Cancer Res 2007;67:10573-10581. (Pubitemid 350070834)
22. Ponta H, Sherman L, Herrlich PA. CD44: From adhesion molecules to signalling regulators. Nat Rev Mol Cell Biol 2003;4:33-45.
23. Marhaba R, Zoller M. CD44 in cancer progression: adhesion, migration and growth regulation. J Mol Histol 2004;35:211-231.
24. Gunthert U, Hofmann M, Rudy W, Reber S, Zoller M, Haussmann I, Matzku S, Wenzel A, Ponta H, Herrlich P. A new variant of glycoprotein CD44 confers metastatic potential to rat carcinoma cells. Cell 1991;65:13-24.
25. Li S, Takeuchi F, Wang JA, Fan Q, Komurasaki T, Billings EM, Pacheco-Rodriguez G, Moss J, Darling TN. Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas. Proc Natl Acad Sci USA 2008;105:3539-3544.
26. Cai X, Pacheco-Rodriguez G, Fan Q, Haughey M, El-Chemaly S, Gochuico B, Samsel L, McCoy JP, Darling TN, Moss J. Identification of disseminated CD44v61/CD91 cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis [abstract]. Am J Respir Crit Care Med 2009;179:A4339.
27. Tomlinson IP, Lambros MB, Roylance RR. Loss of heterozygosity analysis: practically and conceptually flawed? Genes Chromosomes Cancer 2002;34:349-353.
28. Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet 2002;111:96-101.
29. van Bakel I, Sepp T, Yates JR, Green AJ. An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene. Mol Cell Probes 1997;11:75-76.
30. Platten M, Meyer-Puttlitz B, Blumcke I, Waha A, Wolf HK, Nothen MM, Louis DN, Sampson JR, von Deimling A. A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. J Neuropathol Exp Neurol 1997;56:806-810.
31. Henske EP. Metastasis of benign tumor cells in tuberous sclerosis complex. Genes Chromosomes Cancer 2003;38:376-381.
32. Pantel K, Brakenhoff RH, Brandt B. Detection, clinical relevance and specific biological properties of disseminating tumour cells. Nat Rev Cancer 2008;8:329-340.
33. Pantel K, Alix-Panabieres C, Riethdorf S. Cancer micrometastases. Nat Rev Clin Oncol 2009;6:339-351.
34. Mostert B, Sleijfer S, Foekens JA, Gratama JW. Circulating tumor cells (CTCs): detection methods and their clinical relevance in breast cancer. Cancer Treat Rev 2009;35:463-474.
35. Zoller M. Tetraspanins: push and pull in suppressing and promoting metastasis. Nat Rev Cancer 2009;9:40-55.
36. Boucheix C, Duc GH, Jasmin C, Rubinstein E. Tetraspanins and malignancy. Expert Rev Mol Med 2001;2001:1-17.
37. Wright MD, Moseley GW, van Spriel AB. Tetraspanin microdomains in immune cell signalling and malignant disease. Tissue Antigens 2004;64:533-542.
38. Lazo PA. Functional implications of tetraspanin proteins in cancer biology. Cancer Sci 2007;98:1666-1677. (Pubitemid 47487899)
39. Maecker HT, Todd SC, Levy S. The tetraspanin superfamily: molecular facilitators. FASEB J 1997;11:428-442.
40. Stipp CS, Kolesnikova TV, Hemler ME. Functional domains in tetraspanin proteins. Trends Biochem Sci 2003;28:106-112.
41. Hemler ME. Tetraspanin proteins mediate cellular penetration, invasion, and fusion events and define a novel type of membrane microdomain. Annu Rev Cell Dev Biol 2003;19:397-422.
42. Hemler ME. Tetraspanin functions and associated microdomains. Nat Rev Mol Cell Biol 2005;6:801-811.
43. Levy S, Shoham T. Protein-protein interactions in the tetraspanin web. Physiology (Bethesda) 2005;20:218-224.
44. Gupta GP, Massague J. Cancer metastasis: building a framework. Cell 2006;127:679-695.
45. Lesma E, Sirchia SM, Ancona S, Carelli S, Bosari S, Ghelma F, Montanari E, Di Giulio AM, Gorio A. The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. Am J Pathol 2009;174:2150-2159.
46. Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer 1995;13:295-298.
47. Wang J, Li S, Fan Q, Pacheco-Rodriguez G, Moss J, Darling TN. Independent origins for multifocal skin tumors in tuberous sclerosis complex [abstract]. J Invest Dermatol 2007;127:S23.
48. Loeb LA, Bielas JH, Beckman RA. Cancers exhibit a mutator phenotype: Clinical implications. Cancer Res 2008;68:3551-3557.