NEOPLASIA ENDÓCRINA MÚLTIPLE Y ENFERMEDAD INFLAMATORIA INTESTINAL DE INICIO MUY TEMPRANO. UNA ASOCIACIÓN INESPERADA.
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| Title: | NEOPLASIA ENDÓCRINA MÚLTIPLE Y ENFERMEDAD INFLAMATORIA INTESTINAL DE INICIO MUY TEMPRANO. UNA ASOCIACIÓN INESPERADA. |
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| Alternate Title: | Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association. |
| Authors: | Rossi, Santiago I.1 (AUTHOR) santiagorossi.pediatria@gmail.com, Baleani, Silvia1 (AUTHOR), Prado, Ximena1 (AUTHOR), Pascual, Carolina1 (AUTHOR), Tennina, Cecilia2 (AUTHOR), Malagrino, Pablo2 (AUTHOR), Vieites, Ana3 (AUTHOR), Parra, Alejandro4 (AUTHOR), Cazalla, Mario4 (AUTHOR), Castano, Jair Tenorio4 (AUTHOR), Lapunzina, Pablo4 (AUTHOR) |
| Source: | Medicina (Buenos Aires). mar/abr2024, Vol. 84 Issue 2, p347-350. 4p. |
| Abstract (English): | Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias primarias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética. [ABSTRACT FROM AUTHOR] |
| Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
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| Abstract: | Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00257680 |
