| Autor: |
Terry, Merryl, Gupta, Rohit, Ravindranathan, Ajay, Wu, Jasper, Chan, Emily, Bollen, Andrew W., Chang, Susan M., Berger, Mitchel S., Jacques, Line, Solomon, David A. |
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| Zdroj: |
Acta Neuropathologica; Dec2023, Vol. 146 Issue 6, p857-860, 4p |
| Abstrakt: |
While the majority of schwannoma nerve sheath tumors are solitary sporadic tumors, a subset arise as part of heritable tumor predisposition syndromes termed schwannomatosis [[11]]. The identical I SOX10 i mutation was present in each of the four tumors from the first patient, and the identical I SOX10 i mutation was present in both tumors from the second patient (Fig. Based on the observations in these two patients, we conclude somatic mosaicism for I SOX10 i indel mutations causes a form of segmental schwannomatosis lacking other known nerve sheath tumor molecular alterations. The multiple tumors from both patients were found to harbor short in-frame insertion/duplication mutations in the I SOX10 i gene (Supplementary Table S1), similar to those recently discovered in approximately 30% of sporadic solitary schwannomas that were localized at the carboxy-terminal end of the HMG-box DNA binding domain of the encoded homeobox transcription factor (Supplementary Fig. [Extracted from the article] |
| Databáze: |
Complementary Index |
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