Delayed diagnosis of tuberous sclerosis complex: unveiling low-level <i>TSC2</i> mosaicism using targeted next-generation sequencing-Reference-Cited by-同舟云学术

Delayed diagnosis of tuberous sclerosis complex: unveiling low-level TSC2 mosaicism using targeted next-generation sequencing

Published:2024-07-06 Issue: Volume: Page:
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Chang Yi-Han¹,Chang Kwang-Yu²³,Li Chao-Hsuan⁴,Chen Pei-Lung⁴⁵,McGrath John A⁶^ORCID,Hsu Chao-Kai¹⁷⁸^ORCID

Affiliation:

1. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan

2. National Institute of Cancer Research, National Health Research Institutes , Tainan , Taiwan

3. Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan

4. Department of Medical Genetics, National Taiwan University Hospital , Taipei , Taiwan

5. Graduate Institute of Medical Genomics and Proteomics, National Taiwan University , Taipei , Taiwan

6. St John’s Institute of Dermatology, School of Basic & Medical Biosciences, King’s College London , London , UK

7. International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University , Tainan , Taiwan

8. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University , Tainan , Taiwan

Abstract

Our case illustrates the clinical and diagnostic challenges presented by tuberous sclerosis complex (TSC), notably when the clinical signs are few and subtle, and the molecular pathology involves mosaicism and presence of a low percentage of the mutant variant in target tissues. The result aligns with previous findings that a significant number of individuals exhibit low-level mosaicism for a TSC1/TSC2 pathogenic variant without clinical recognition, and underscores the utility of next-generation sequencing technologies in the genetic study of TSC. Moreover, a deeper understanding of the molecular pathology of TSC-associated tumours improves genetic counselling and disease management.

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llae253/58934695/llae253.pdf

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