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Hamartoma of brain

MedGen UID:
83892
Concept ID:
C0349611
Disease or Syndrome
Synonym: Brain Hamartoma
SNOMED CT: Hamartoma of brain (277369003)

Definition

A hamartoma that occurs in the brain. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHamartoma of brain

Professional guidelines

PubMed

Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P
Eur J Paediatr Neurol 2023 Nov;47:25-34. Epub 2023 Aug 30 doi: 10.1016/j.ejpn.2023.08.005. PMID: 37669572
Fogarasi A , Gyorsok Z , Bodó T
Ideggyogy Sz 2017 Mar 30;70(3-4):97-103. doi: 10.18071/isz.70.0097. PMID: 29870614
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893

Recent clinical studies

Etiology

Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P
Eur J Paediatr Neurol 2023 Nov;47:25-34. Epub 2023 Aug 30 doi: 10.1016/j.ejpn.2023.08.005. PMID: 37669572
Islam MP
Semin Pediatr Neurol 2021 Apr;37:100875. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100875. PMID: 33892851
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:201-203. doi: 10.1007/978-3-319-95046-4_42. PMID: 30578515
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398
Curatolo P, Bombardieri R, Jozwiak S
Lancet 2008 Aug 23;372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9. PMID: 18722871

Diagnosis

Islam MP
Semin Pediatr Neurol 2021 Apr;37:100875. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100875. PMID: 33892851
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893
Curatolo P, Maria BL
Handb Clin Neurol 2013;111:323-31. doi: 10.1016/B978-0-444-52891-9.00038-5. PMID: 23622183
Curatolo P, Bombardieri R, Jozwiak S
Lancet 2008 Aug 23;372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9. PMID: 18722871

Therapy

Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P
Eur J Paediatr Neurol 2023 Nov;47:25-34. Epub 2023 Aug 30 doi: 10.1016/j.ejpn.2023.08.005. PMID: 37669572
Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators
Ann Neurol 2021 Feb;89(2):304-314. Epub 2020 Nov 27 doi: 10.1002/ana.25956. PMID: 33180985Free PMC Article
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234

Prognosis

Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398
Colaco P
Indian J Pediatr 1997 Mar-Apr;64(2):165-75. doi: 10.1007/BF02752439. PMID: 10771833

Clinical prediction guides

Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Russo C, Nastro A, Cicala D, De Liso M, Covelli EM, Cinalli G
Childs Nerv Syst 2020 Oct;36(10):2497-2509. Epub 2020 Jun 9 doi: 10.1007/s00381-020-04705-4. PMID: 32519125
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Colaco P
Indian J Pediatr 1997 Mar-Apr;64(2):165-75. doi: 10.1007/BF02752439. PMID: 10771833
Kwiatkowski DJ, Short MP
Arch Dermatol 1994 Mar;130(3):348-54. PMID: 8129414

Recent systematic reviews

Shakhatreh L, Janmohamed M, Baker AA, Willard A, Laing J, Rychkova M, Chen Z, Kwan P, O'Brien TJ, Perucca P
Neurobiol Dis 2022 Nov;174:105863. Epub 2022 Sep 19 doi: 10.1016/j.nbd.2022.105863. PMID: 36165814
Nie JZ, Karras CL, Trybula SJ, Texakalidis P, Alden TD
Neurosurg Focus 2022 May;52(5):E6. doi: 10.3171/2022.2.FOCUS21789. PMID: 35535822
Zöllner JP, Franz DN, Hertzberg C, Nabbout R, Rosenow F, Sauter M, Schubert-Bast S, Wiemer-Kruel A, Strzelczyk A
Orphanet J Rare Dis 2020 Jan 21;15(1):23. doi: 10.1186/s13023-019-1258-3. PMID: 31964424Free PMC Article
Safi C, Li C, Tabaee A, Ramakrishna R, Riley CA
Int Forum Allergy Rhinol 2019 Jun;9(6):674-680. Epub 2019 Jan 18 doi: 10.1002/alr.22298. PMID: 30657648
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893

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