PMID- 28474160
OWN - NLM
STAT- MEDLINE
DCOM- 20190417
LR  - 20190417
IS  - 1432-1963 (Electronic)
IS  - 0172-8113 (Linking)
VI  - 38
IP  - 3
DP  - 2017 May
TI  - [Hereditary tumor syndromes in neuropathology].
PG  - 186-196
LID - 10.1007/s00292-017-0292-y [doi]
AB  - Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary 
      tumor syndromes play an important role in the neuropathological diagnostics. The 
      benign and malignant PNS and CNS tumors that occur in the frequent 
      neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors 
      for the course of the disease in those affected. Furthermore, certain clinical 
      constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at 
      a young age and multiple meningiomas) can be important indications for a 
      previously undiagnosed hereditary tumor disease. Other tumors occur practically 
      regularly in association with certain germline defects, e.g. subependymal giant 
      cell astrocytoma (SEGA) in tuberous sclerosis and dysplastic gangliocytoma of the 
      cerebellum in Cowden's syndrome and can be indications in the diagnostics for an 
      extended genetic counselling. This is not only important because many germline 
      defects are based on new mutations, but also for the now established targeted 
      therapy of certain tumors, e.g. inhibition of the mammalian target of rapamycin 
      (mTOR) signaling pathway using temsirolimus for SEGA. Furthermore, knowledge 
      about the possible constellations of genetic mosaics in hereditary tumor 
      syndromes with the resulting (incomplete) syndrome manifestations is useful. This 
      review article summarizes the most important hereditary tumor syndromes with 
      involvement of the PNS and CNS.
FAU - Mawrin, C
AU  - Mawrin C
AD  - Institut fur Neuropathologie, Otto-von-Guericke-Universitat Magdeburg, Leipziger 
      Strasse 44, 39120, Magdeburg, Deutschland. christian.mawrin@med.ovgu.de.
LA  - ger
PT  - Journal Article
PT  - Review
TT  - Hereditare Tumorsyndrome in der Neuropathologie.
PL  - Germany
TA  - Pathologe
JT  - Der Pathologe
JID - 8006541
SB  - IM
MH  - Central Nervous System Neoplasms/*pathology
MH  - Humans
MH  - Neoplastic Syndromes, Hereditary/*pathology
MH  - Peripheral Nervous System Neoplasms/*pathology
OTO - NOTNLM
OT  - Cowden syndrome
OT  - Li-Fraumeni syndrome
OT  - Neurofibromatosis type 1
OT  - Neurofibromatosis type 2
OT  - Schwannomatosis
EDAT- 2017/05/06 06:00
MHDA- 2019/04/18 06:00
CRDT- 2017/05/06 06:00
PHST- 2017/05/06 06:00 [pubmed]
PHST- 2019/04/18 06:00 [medline]
PHST- 2017/05/06 06:00 [entrez]
AID - 10.1007/s00292-017-0292-y [pii]
AID - 10.1007/s00292-017-0292-y [doi]
PST - ppublish
SO  - Pathologe. 2017 May;38(3):186-196. doi: 10.1007/s00292-017-0292-y.