Literature DB >> 28474161

[Soft tissue tumors in hereditary tumor syndromes].

A Agaimy1.   

Abstract

Benign and malignant soft tissue tumors usually develop de novo without identifiable risk factors or predisposing conditions. However, in recent decades, soft tissue tumors have been increasingly recognized to be associated with diverse hereditary tumor syndromes as a consequence of germline mutations involving mainly tumor suppressor genes, but rarely also affecting proto-oncogenes. This is mainly the consequence of increasing application of modern genetic analysis tools, such as next-generation sequencing (NGS) and whole genome analyses. Syndrome-associated soft tissue tumors frequently show distinctive clinicopathological features and peculiarities that facilitate and potentially enhance their recognition and identification during routine surgical pathology practice. As it is not uncommon that pathologists are the first medical specialists to recognize a potential hereditary etiology of neoplastic diseases on the basis of specific pathological features, it is mandatory that pathologists be familiar with the main features that characterize those soft tissue tumors with inherited etiology, at least the most common and important of them. This review summarizes the main syndromes and their associated soft tissue tumors and discusses their characteristic pathological features that help in the recognition of hereditary syndromes.

Entities:  

Keywords:  GIST; Germline mutation; Li-Fraumeni syndrome; Neurofibromatosis; Next generation sequencing

Mesh:

Year:  2017        PMID: 28474161     DOI: 10.1007/s00292-017-0296-7

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


  31 in total

1.  [Pathology of familial tumor syndromes].

Authors:  A Hartmann
Journal:  Pathologe       Date:  2017-05       Impact factor: 1.011

Review 2.  Anisometric cell lipoma: Insight from a case series and review of the literature on adipocytic neoplasms in survivors of retinoblastoma suggest a role for RB1 loss and possible relationship to fat-predominant ("fat-only") spindle cell lipoma.

Authors:  Abbas Agaimy
Journal:  Ann Diagn Pathol       Date:  2017-04-29       Impact factor: 2.090

3.  Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.

Authors:  M Genuardi; M Klutz; K Devriendt; D Caruso; M Stirpe; D R Lohmann
Journal:  Eur J Hum Genet       Date:  2001-09       Impact factor: 4.246

4.  Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

Authors:  Abbas Agaimy; Inga-Marie Schaefer; Leopoldina Kotzina; Jürgen Knolle; Irith Baumann; Philipp Ströbel; Michael Vieth
Journal:  Histopathology       Date:  2014-01-10       Impact factor: 5.087

5.  Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Authors:  Inga-Marie Schaefer; Philipp Ströbel; Aung Thiha; Jan Martin Sohns; Christian Mühlfeld; Stefan Küffer; Gunther Felmerer; Adam Stepniewski; Silke Pauli; Abbas Agaimy
Journal:  Int J Clin Exp Pathol       Date:  2013-11-15

6.  Multiple sporadic gastrointestinal stromal tumours arising at different gastrointestinal sites: pattern of involvement of the muscularis propria as a clue to independent primary GISTs.

Authors:  Abbas Agaimy; Bruno Märkl; Hans Arnholdt; Peter H Wünsch; Luigi M Terracciano; Stephan Dirnhofer; Arndt Hartmann; Luigi Tornillo; Michel P Bihl
Journal:  Virchows Arch       Date:  2009-07-02       Impact factor: 4.064

7.  Lifetime risks of common cancers among retinoblastoma survivors.

Authors:  Olivia Fletcher; Douglas Easton; Kristin Anderson; Clare Gilham; Marcelle Jay; Julian Peto
Journal:  J Natl Cancer Inst       Date:  2004-03-03       Impact factor: 13.506

Review 8.  Aggressive fibromatosis.

Authors:  Cyril Fisher; Khin Thway
Journal:  Pathology       Date:  2014-02       Impact factor: 5.306

Review 9.  The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.

Authors:  C A Stratakis; J A Carney
Journal:  J Intern Med       Date:  2009-07       Impact factor: 8.989

10.  Monosotic fibrous dysplasia and solitary intramuscular myxoma of the head and neck: A unique presentation of Mazabraud's syndrome and a literature review.

Authors:  Shuiting Fu; Zhuowei Tian; Chenping Zhang; Yue He
Journal:  Oncol Lett       Date:  2015-08-25       Impact factor: 2.967

View more
  1 in total

1.  [Soft tissue tumors : Epidemiology, classification and staging].

Authors:  L Fenzl; M Mehrmann; K Kremp; G Schneider
Journal:  Radiologe       Date:  2017-11       Impact factor: 0.635

  1 in total

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