Abstract |
Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism ( enchondromatosis/IDH1/2), complex signaling cascades ( multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). The majority of syndromes are incompletely understood and can lead to multiple benign tumors, of which some might undergo secondary malignant transformation over time ( enchondromatosis: enchondromas, multiple hereditary exostoses: osteochondromas, Gardner syndrome: osteomas) or bone sarcomas, primarily osteosarcomas as primary (Li-Fraumeni, Rothmund-Thomson, Werner and Bloom syndromes) or secondary manifestation ( retinoblastoma syndrome) of the disease. Some syndromes additionally predispose to the development of a variety of other malignant tumors during life. Compared to sporadically occurring tumors, syndrome-related neoplasms can differ in the time of manifestation, site and histology, which can help in recognizing a specific tumor predisposition syndrome.
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Authors | D Baumhoer |
Journal | Der Pathologe
(Pathologe)
Vol. 38
Issue 3
Pg. 179-185
(May 2017)
ISSN: 1432-1963 [Electronic] Germany |
Vernacular Title | Hereditäre Knochentumoren. |
PMID | 28421271
(Publication Type: Journal Article)
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Topics |
- Bone Neoplasms
(genetics, pathology)
- Humans
- Mutation
- Neoplastic Syndromes, Hereditary
(genetics, pathology)
- Osteosarcoma
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