PMID- 37947859
OWN - NLM
STAT- MEDLINE
DCOM- 20240226
LR  - 20240226
IS  - 1433-0350 (Electronic)
IS  - 0256-7040 (Linking)
VI  - 40
IP  - 3
DP  - 2024 Mar
TI  - Treatment of tuberous sclerosis complex manifestations in children with mTOR 
      inhibitors.
PG  - 831-837
LID - 10.1007/s00381-023-06218-2 [doi]
AB  - PURPOSE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic 
      disorder that affects multiple organ systems. Mutations in the TSC1 and TSC2 
      genes result in the constitutive hyperactivation of the mammalian target of 
      rapamycin (mTOR) pathway, contributing to the growth of benign tumors or 
      hamartomas in various organs. Due to the implication of mTOR pathway 
      dysregulation in the disease pathology, increasing evidence supports the use of 
      mTOR inhibitors for treating multiple manifestations of TSC. METHODS: In this 
      study, we conducted a retrospective analysis of clinical findings and treatment 
      data from 38 patients diagnosed with tuberous sclerosis who were followed up in 
      the Pediatric Oncology Clinic between 2010 and 2020. We collected information on 
      patients' ages, genders, affected sites, familial history, imaging findings, 
      presence of tumors, and treatments. RESULTS: Among the patients, nine individuals 
      with TSC manifestations were treated with mTOR inhibitors. Specifically, 
      everolimus was successfully administered to five patients with inborn cardiac 
      rhabdomyoma causing hemodynamic impairment. In addition, two patients with 
      refractory seizures received everolimus in combination with anti-epileptic drugs. 
      A patient with renal angiomyolipomas larger than 3 cm was treated with 
      everolimus, while a patient with extensive facial angiofibroma received topical 
      sirolimus. All patients tolerated the mTOR inhibitors well, and the side effects 
      were deemed acceptable. CONCLUSION: The utilization of mTOR inhibition in TSC is 
      expected to become more prevalent in clinical practice, as current research is 
      anticipated to provide a better understanding of the therapeutic roles of these 
      treatments in TSC.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Yesil, Sule
AU  - Yesil S
AUID- ORCID: 0000-0002-2328-8612
AD  - Department of Pediatric Hematology and Oncology, Ankara Etlik Integrated Health 
      Campus, Ankara, Turkey. suleyesil@yahoo.com.
FAU - Kurucu, Burcak
AU  - Kurucu B
AUID- ORCID: 0000-0003-3474-5070
AD  - Department of Pediatric Hematology and Oncology, Ankara Etlik Integrated Health 
      Campus, Ankara, Turkey.
FAU - Hamamci, Melda Berber
AU  - Hamamci MB
AUID- ORCID: 0000-0001-6875-5766
AD  - Department of Pediatric Hematology and Oncology, Ankara Etlik Integrated Health 
      Campus, Ankara, Turkey.
FAU - Yilmaz, Sukriye
AU  - Yilmaz S
AUID- ORCID: 0000-0002-5777-6147
AD  - Department of Pediatric Radiology, Ankara Etlik Integrated Health Campus, Ankara, 
      Turkey.
FAU - Sahin, Gurses
AU  - Sahin G
AUID- ORCID: 0000-0002-8569-3971
AD  - Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research 
      Hospital, Department of Pediatric Hematology and Oncology, Ankara, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20231110
PL  - Germany
TA  - Childs Nerv Syst
JT  - Child's nervous system : ChNS : official journal of the International Society for 
      Pediatric Neurosurgery
JID - 8503227
RN  - 9HW64Q8G6G (Everolimus)
RN  - 0 (MTOR Inhibitors)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Child
MH  - Humans
MH  - Female
MH  - Male
MH  - *Everolimus/therapeutic use
MH  - *Tuberous Sclerosis/complications/drug therapy/genetics
MH  - MTOR Inhibitors
MH  - Retrospective Studies
MH  - TOR Serine-Threonine Kinases/genetics/metabolism/therapeutic use
MH  - Sirolimus/therapeutic use
OTO - NOTNLM
OT  - Treatment
OT  - Tuberous sclerosis complex
OT  - mTOR inhibitors
EDAT- 2023/11/10 12:44
MHDA- 2024/02/26 06:44
CRDT- 2023/11/10 11:06
PHST- 2023/10/16 00:00 [received]
PHST- 2023/11/06 00:00 [accepted]
PHST- 2024/02/26 06:44 [medline]
PHST- 2023/11/10 12:44 [pubmed]
PHST- 2023/11/10 11:06 [entrez]
AID - 10.1007/s00381-023-06218-2 [pii]
AID - 10.1007/s00381-023-06218-2 [doi]
PST - ppublish
SO  - Childs Nerv Syst. 2024 Mar;40(3):831-837. doi: 10.1007/s00381-023-06218-2. Epub 
      2023 Nov 10.