The aim of our study was to elucidate the landscapes of genetic alterations of TSC1 and TSC2 as well as other possible non-TSC1/2 in Lymphangioleiomyomatosis (LAM) patients. Sixty-one Chinese LAM patients' clinical information was collected. Tumor biopsies and matched leukocytes from these patients were retrospectively analyzed by next generation sequencing (NGS), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA). Eighty-six TSC1/2 variants were identified in 46 of the 61 LAM patients (75.4%) in which TSC2 and TSC1 variants were 88.37% and 11.63% respectively. The 86 variants are composed of (i) 52 single nucleotide variants (SNVs) (including 30 novel variants), (ii) 23 indels (including 21deletions, and 2 insertions), (iii) a germline duplication of exon 31-42 of TSC2, (iv) a 2.68 Mb somatic duplication containing TSC2, and (v) 9 regions with copy-neutral loss of heterogeneity (CN-LOHs) present only in the LAM patients with single TSC1/2 mutations. Sixty-one non-TSC1/2 variants in 31 genes were identified in 37 LAM patients. Combined applications of different techniques are necessary to achieve maximal detection rate of TSC1/2 variants in LAM patients. Thirty novel TSC1/2 variants expands the spectrum of TSC1/2 in LAM patients. Identification of 61 non-TSC1/2 variants suggests that alternative genes might have contributed to the initiation and progression of LAM.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922431PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226400PLOS

Publication Analysis

Top Keywords

lam patients
24
tsc1/2 variants
12
lam
9
variants
9
tsc1 tsc2
8
lymphangioleiomyomatosis lam
8
identified lam
8
non-tsc1/2 variants
8
patients
7
tsc2
5

Similar Publications

sp. nov., isolated from a patient with ruptured appendicitis.

Int J Syst Evol Microbiol

January 2025

Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrative Region, Hong Kong, PR China.

A clinical isolate, R131, was isolated from the peritoneal swab of a patient who suffered from ruptured appendicitis with abscess and gangrene in Hong Kong in 2018. Cells are facultatively anaerobic, non-motile, Gram-positive coccobacilli. Colonies were small, grey, semi-translucent, low convex and alpha-haemolytic.

View Article and Find Full Text PDF

Obstructive sleep apnea (OSA) affects a large portion of middle-aged and older adults. It has been linked to increased risk of cognitive decline and Alzheimer's disease. OSA can impair cognitive performance and patients with cognitive complaints can frequently present with this sleep disorder.

View Article and Find Full Text PDF

Background: Full-thickness cartilage defects have a significant impact on the function of joints in young adults, and the treatment of cartilage defects has been a challenge, as cartilage tissue is an avascular tissue. This study aimed to compare the clinical and radiological outcomes of Biphasic Cartilage Repair Implant (BiCRI) and microfracture treatments for knee cartilage defects.

Methods: This randomized controlled clinical trial enrolled patients with symptomatic knee chondral lesions smaller than 3 cm.

View Article and Find Full Text PDF

Longitudinal associations of flare and damage accrual in patients with systemic lupus erythematosus.

Lupus Sci Med

January 2025

Rheumatology Research Group, Centre for Inflammatory Diseases, School of Clinical Sciences, Monash University, Clayton, Victoria, Australia.

Objective: To estimate the prevalence of organ damage (damage) and flare and to examine longitudinal associations between flares and subsequent damage accrual, in patients with systemic lupus erythematosus (SLE).

Methods: Patients enrolled in the Asia Pacific Lupus Collaboration cohort with ≥3 years of prospectively captured data were studied. Flares were assessed at routine visits, while damage ((Systemic Lupus International Collaborating Clinics/American College of Rheumatology) Damage Index) was assessed annually.

View Article and Find Full Text PDF

Association Between Type 2 Diabetes Onset Age and Risk of Cardiovascular Disease and Mortality: Two Cohort Studies from United Kingdom and Hong Kong.

Diabetes Metab

January 2025

Department of Family Medicine and Primary Care, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong; Centre for Safe Medication Practice and Research, Department of Pharmacology and Pharmacy, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong; Advanced Data Analytics for Medical Science (ADAMS) Limited, Hong Kong S.A.R., China. Electronic address:

Objective: This study evaluated the association between age of onset of type 2 diabetes mellitus (T2DM) and risk of cardiovascular disease (CVD) and mortality.

Method: Two retrospective cohort studies were conducted using the electronic health record from United Kingdom (UK) and Hong Kong (HK) (2008-2013) on adults without CVD. 128,918 and 185,646 patients with newly diagnosed T2DM were assigned to the T2DM group, and control group included 5,052,770 and 3,159,396 patients without T2DM in UK and HK cohort, respectively.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!