Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

American Journal of Respiratory and Critical Care Medicine

Volumn 187, Issue 6, 2013, Pages 663-665

  Badri, Kameswara Rao ^a,e   Gao, Ling ^a   Hyjek, Elizabeth ^a   Schuger, Noa ^a   Schuger, Lucia ^a   Qin, Wei ^b,c   Chekaluk, Yvonne ^b,c   Kwiatkowski, David J ^b,c   Zhe, Xiaoning ^d  

^a UNIVERSITY OF CHICAGO   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d WAYNE STATE UNIVERSITY   (United States)

^e SAVANNAH STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HAMARTIN; SMOOTH MUSCLE ACTIN; TUBERIN;

ALLELE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; KIDNEY HEMANGIOMYOLIPOMA; LASER CAPTURE MICRODISSECTION; LETTER; LUNG TRANSPLANTATION; LUNG TUMOR; LYMPHANGIOLEIOMYOMATOSIS; LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PULMONARY LYMPHANGIOLEIOMYOMATOSIS;

DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; LUNG TRANSPLANTATION; LYMPHANGIOLEIOMYOMATOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR SUPPRESSOR PROTEINS;

EID: 84875155188     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/ajrccm.187.6.663     Document Type: Letter

References (16)

1. Cohen MM, Pollock-BarZiv S, Johnson SR. Emerging clinical picture of lymphangioleiomyomatosis. Thorax 2005;60:875-879.
2. Taveira-DaSilva AM, Pacheco-Rodriguez G, Moss J. The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. Lymphat Res Biol 2010;8:9-19.
3. McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest 2008;133:507-516.
4. Hohman DW, Noghrehkar D, Ratnayake S. Lymphangioleiomyomatosis: a review. Eur J Intern Med 2008;19:319-324.
5. Seyama K, Kumasaka T, Kurihara M, Mitani K, Sato T. Lymphangioleiomyomatosis: a disease involving the lymphatic system. Lymphat Res Biol 2010;8:21-31.
6. 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.
7. 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.
8. Goncharova EA, Goncharov DA, Eszterhas A, Hunter DS, Glassberg MK, Yeung RS, Walker CL, Noonan D, Kwiatkowski DJ, Chou MM, et al. Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation: a role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). J Biol Chem 2002;277: 30958-30967.
9. 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.
10. Cai X, Pacheco-Rodriguez G, Fan QY, Haughey M, Samsel L, El-Chemaly S, Wu HP, McCoy JP, Steagall WK, Lin JP, et al. Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis. Am J Respir Crit Care Med 2010;182:1410-1418.
11. Badri KR, Qin W, Gao L, Zhe X, Gong C, Schuger N, Hyjek E, Kwiatkowski DJ, Schuger L. A subgroup of lymphangioleiomyomatosis with no TSC mutations identified [abstract]. FASEB J 2012;26:Ib498.
12. Badri KR, Gao L, Gong C, Qin W, Kwiatkowski DJ, Schuger N, Schuger L. Lack of exonic mutations TSC1/TSC2 mutations is not uncommon in sporadic LAM [abstract]. Presented at the First European LAM Conference. October 1-3, 2010, Udine, Italy.
13. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 2010;127:573-582.
14. Matsumoto Y, Horiba K, Usuki J, Chu SC, Ferrans VJ, Moss J. Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 1999;21:327-336.
15. Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005;14 (Spec 2):R251-R258.
16. McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011; 364:1595-1606.