Literature DB >> 28474160

[Hereditary tumor syndromes in neuropathology].

C Mawrin1.   

Abstract

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.

Entities:  

Keywords:  Cowden syndrome; Li-Fraumeni syndrome; Neurofibromatosis type 1; Neurofibromatosis type 2; Schwannomatosis

Mesh:

Year:  2017        PMID: 28474160     DOI: 10.1007/s00292-017-0292-y

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  102 in total

1.  Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Authors:  Doua Bakry; Melyssa Aronson; Carol Durno; Hala Rimawi; Roula Farah; Qasim Kholaif Alharbi; Musa Alharbi; Ashraf Shamvil; Shay Ben-Shachar; Matthew Mistry; Shlomi Constantini; Rina Dvir; Ibrahim Qaddoumi; Steven Gallinger; Jordan Lerner-Ellis; Aaron Pollett; Derek Stephens; Steve Kelies; Elizabeth Chao; David Malkin; Eric Bouffet; Cynthia Hawkins; Uri Tabori
Journal:  Eur J Cancer       Date:  2014-01-15       Impact factor: 9.162

2.  Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Authors:  Miriam J Smith; Andrew J Wallace; Naomi L Bowers; Cecilie F Rustad; C Geoff Woods; Guy D Leschziner; Rosalie E Ferner; D Gareth R Evans
Journal:  Neurogenetics       Date:  2012-03-22       Impact factor: 2.660

3.  Expression pattern of the von Hippel-Lindau protein in human tissues.

Authors:  M Los; G H Jansen; W G Kaelin; C J Lips; G H Blijham; E E Voest
Journal:  Lab Invest       Date:  1996-08       Impact factor: 5.662

4.  Proliferative activity as measured by MIB-1 labeling index and long-term outcome of visual pathway astrocytomas in children.

Authors:  T Czech; I Slavc; M Aichholzer; C Haberler; W Dietrich; K Dieckmann; W Koos; H Budka
Journal:  J Neurooncol       Date:  1999-04       Impact factor: 4.130

5.  Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Authors:  A D Sorrell; S Lee; C Stolle; J Ellenhorn; A Grix; W G Kaelin; J N Weitzel
Journal:  Clin Genet       Date:  2011-06       Impact factor: 4.438

6.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

7.  Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012.

Authors:  Jonathan Roth; E Steve Roach; Ute Bartels; Sergiusz Jóźwiak; Mary Kay Koenig; Howard L Weiner; David N Franz; Henry Z Wang
Journal:  Pediatr Neurol       Date:  2013-10-15       Impact factor: 3.372

8.  Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Authors:  Leanne de Kock; Nelly Sabbaghian; François Plourde; Archana Srivastava; Evan Weber; Dorothée Bouron-Dal Soglio; Nancy Hamel; Joon Hyuk Choi; Sung-Hye Park; Cheri L Deal; Megan M Kelsey; Megan K Dishop; Adam Esbenshade; John F Kuttesch; Thomas S Jacques; Arie Perry; Heinz Leichter; Philippe Maeder; Marie-Anne Brundler; Justin Warner; James Neal; Margaret Zacharin; Márta Korbonits; Trevor Cole; Heidi Traunecker; Thomas W McLean; Fabio Rotondo; Pierre Lepage; Steffen Albrecht; Eva Horvath; Kalman Kovacs; John R Priest; William D Foulkes
Journal:  Acta Neuropathol       Date:  2014-05-20       Impact factor: 17.088

Review 9.  The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.

Authors:  D G Evans; P A Farndon; L D Burnell; H R Gattamaneni; J M Birch
Journal:  Br J Cancer       Date:  1991-11       Impact factor: 7.640

10.  Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Authors:  Magdalena E Tyburczy; Kira A Dies; Jennifer Glass; Susana Camposano; Yvonne Chekaluk; Aaron R Thorner; Ling Lin; Darcy Krueger; David N Franz; Elizabeth A Thiele; Mustafa Sahin; David J Kwiatkowski
Journal:  PLoS Genet       Date:  2015-11-05       Impact factor: 5.917

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