Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

Eur Respir J. 2019 Oct 10;54(4):1900938. doi: 10.1183/13993003.00938-2019. Print 2019 Oct.

Authors

Barbara Ogórek¹, Lana Hamieh¹, Kathryn Lasseter¹, Shefali Bagwe¹, Tania Machado², Carmen Herranz-Ors³, Aaron R Thorner⁴, Anwesha Nag⁴, Peter Gulleman⁵, Krinio Giannikou¹, Lisa R Young⁵, Miquel Àngel Pujana³, Thomas N Darling⁶, Souheil El-Chemaly¹, Joel Moss², Elizabeth P Henske¹, David J Kwiatkowski⁷

Affiliations

¹ Dept of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
² Pulmonary Branch, National Heart, Lung, and Blood Institute (NHLBI), Bethesda, MD, USA.
³ ProCURE, Catalan Institute of Oncology (ICO), Bellvitge Institute of Biomedical Research (IDIBELL), Barcelona, Spain.
⁴ Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, MA, USA.
⁵ Division of Pediatric Pulmonary Medicine, Dept of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.
⁶ Dept of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
⁷ Dept of Medicine, Brigham and Women's Hospital, Boston, MA, USA [email protected].

No abstract available

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Angiomyolipoma / genetics*
Cell-Free Nucleic Acids / genetics
Female
Humans
Kidney Neoplasms / genetics*
Lung Neoplasms / genetics*
Lymphangioleiomyomatosis / blood
Lymphangioleiomyomatosis / genetics*
Middle Aged
Mosaicism*
Neoplasms, Multiple Primary / genetics*
Pneumothorax
Retroperitoneal Neoplasms / genetics*
Tuberous Sclerosis Complex 2 Protein / genetics*
Vascular Endothelial Growth Factor D / blood
Young Adult

Substances

Cell-Free Nucleic Acids
TSC2 protein, human
Tuberous Sclerosis Complex 2 Protein
Vascular Endothelial Growth Factor D

Grants and funding