Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation

Ann Am Thorac Soc. 2017 Jul;14(7):1227-1229. doi: 10.1513/AnnalsATS.201703-229LE.

Authors

MeiLan K Han¹, Magdalena E Tyburczy², Thomas N Darling³, Ella A Kazerooni¹, Jeffrey L Myers¹, Francis X McCormack⁴, Joel Moss⁵, David J Kwiatkowski²

Affiliations

¹ 1 University of Michigan Ann Arbor, Michigan.
² 2 Brigham and Women's Hospital Boston, Massachusetts.
³ 3 Uniformed Services University of the Health Sciences Bethesda, Maryland.
⁴ 4 University of Cincinnati Cincinnati, Ohio and.
⁵ 5 National Institutes of Health Bethesda, Maryland.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
DNA Mutational Analysis
DNA, Neoplasm / genetics*
Humans
Lung Neoplasms / diagnosis
Lung Neoplasms / genetics*
Lung Neoplasms / metabolism
Lymphangioleiomyomatosis / diagnosis
Lymphangioleiomyomatosis / genetics*
Lymphangioleiomyomatosis / metabolism
Male
Middle Aged
Mosaicism*
Mutation
Tomography, X-Ray Computed
Tuberous Sclerosis Complex 2 Protein / genetics*
Tuberous Sclerosis Complex 2 Protein / metabolism

Substances

DNA, Neoplasm
TSC2 protein, human
Tuberous Sclerosis Complex 2 Protein