PMID- 35246210
OWN - NLM
STAT- MEDLINE
DCOM- 20220413
LR  - 20220413
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 17
IP  - 1
DP  - 2022 Mar 4
TI  - Perfect match: mTOR inhibitors and tuberous sclerosis complex.
PG  - 106
LID - 10.1186/s13023-022-02266-0 [doi]
LID - 106
AB  - Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents 
      with diverse and complex clinical features and involves multiple human systems. 
      TSC-related neurological abnormalities and organ dysfunction greatly affect the 
      quality of life and can even result in death in patients with TSC. It is widely 
      accepted that most TSC-related clinical manifestations are associated with 
      hyperactivation of the mammalian target of rapamycin (mTOR) pathway caused by 
      loss‑of‑function mutations in TSC1 or TSC2. Remarkable progress in basic and 
      translational research has led to encouraging clinical advances. Although mTOR 
      inhibitors (rapamycin/everolimus) demonstrate great potential in TSC management, 
      two major concerns hamper their generalized application. One is the frequent 
      manifestation of adverse events, such as stomatitis, infections, and menstrual 
      disorders; and the other is the poor response in certain patients. Thus, 
      indicators are required to effectively predict the efficacy of mTOR inhibitors. 
      Herein, we have summarized the current utilization of mTOR inhibitors in the 
      treatment of TSC and focused on their efficacy and safety, in an attempt to 
      provide a reference to guide the treatment of TSC.
CI  - (c) 2022. The Author(s).
FAU - Luo, Cong
AU  - Luo C
AD  - Department of Urology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, Changsha City, 410008, 
      Hunan Province, People's Republic of China.
FAU - Ye, Wen-Rui
AU  - Ye WR
AD  - Department of Neurosurgery, Xiangya Hospital, Central South University, No. 87 
      Xiangya Road, Changsha City, 410008, Hunan Province, People's Republic of China.
FAU - Shi, Wei
AU  - Shi W
AD  - Department of Dermatology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, Xiangya Hospital, Central South University, No. 87 
      Xiangya Road, Changsha City, 410008, Hunan Province, People's Republic of China.
FAU - Yin, Ping
AU  - Yin P
AD  - Department of Oral and Maxillofacial Surgery, Center of Stomatology, Disorders of 
      Tuberous Sclerosis Complex (TSC) Multidisciplinary Team, Xiangya Hospital, 
      Central South University, No. 87 Xiangya Road, Changsha City, 410008, Hunan 
      Province, People's Republic of China.
FAU - Chen, Chen
AU  - Chen C
AD  - Department of Pediatrics, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, No. 87 Xiangya Road, 
      Changsha City, 410008, Hunan Province, People's Republic of China.
FAU - He, Yun-Bo
AU  - He YB
AD  - Department of Urology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, Changsha City, 410008, 
      Hunan Province, People's Republic of China.
FAU - Chen, Min-Feng
AU  - Chen MF
AD  - Department of Urology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, Changsha City, 410008, 
      Hunan Province, People's Republic of China.
FAU - Zu, Xiong-Bin
AU  - Zu XB
AD  - Department of Urology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, Changsha City, 410008, 
      Hunan Province, People's Republic of China.
FAU - Cai, Yi
AU  - Cai Y
AUID- ORCID: 0000-0001-7773-2064
AD  - Department of Urology, Disorders of Tuberous Sclerosis Complex (TSC) 
      Multidisciplinary Team, National Clinical Research Center for Geriatric 
      Disorders, Xiangya Hospital, Central South University, Changsha City, 410008, 
      Hunan Province, People's Republic of China. cai-yi@csu.edu.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20220304
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (MTOR Inhibitors)
RN  - 9HW64Q8G6G (Everolimus)
RN  - EC 2.7.1.1 (MTOR protein, human)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Everolimus/therapeutic use
MH  - Humans
MH  - *MTOR Inhibitors
MH  - Quality of Life
MH  - Sirolimus/therapeutic use
MH  - TOR Serine-Threonine Kinases/metabolism
MH  - *Tuberous Sclerosis/complications
PMC - PMC8895788
OTO - NOTNLM
OT  - Adverse events
OT  - Efficacy
OT  - Precision medicine
OT  - Tuberous sclerosis complex (TSC)
OT  - mTOR inhibitors
COIS- The authors have nothing to disclose.
EDAT- 2022/03/06 06:00
MHDA- 2022/04/14 06:00
PMCR- 2022/03/04
CRDT- 2022/03/05 05:25
PHST- 2021/11/27 00:00 [received]
PHST- 2022/02/20 00:00 [accepted]
PHST- 2022/03/05 05:25 [entrez]
PHST- 2022/03/06 06:00 [pubmed]
PHST- 2022/04/14 06:00 [medline]
PHST- 2022/03/04 00:00 [pmc-release]
AID - 10.1186/s13023-022-02266-0 [pii]
AID - 2266 [pii]
AID - 10.1186/s13023-022-02266-0 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2022 Mar 4;17(1):106. doi: 10.1186/s13023-022-02266-0.