Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report
Congenital spinal hamartomas are rare benign tumors. They are mostly seen in infants and are typically asymptomatic at presentation. Spinal hamartomas have not been associated with any known cancer predisposition syndrome. DICER1 syndrome is a well-characterized cancer predisposition syndrome caused...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.963768/full |
| _version_ | 1811214693905203200 |
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| author | Rawan Hammad Rawan Hammad Winnie Lo Haiying Chen Manohar Shroff David Malkin Anita Villani Avram Denburg |
| author_facet | Rawan Hammad Rawan Hammad Winnie Lo Haiying Chen Manohar Shroff David Malkin Anita Villani Avram Denburg |
| author_sort | Rawan Hammad |
| collection | DOAJ |
| description | Congenital spinal hamartomas are rare benign tumors. They are mostly seen in infants and are typically asymptomatic at presentation. Spinal hamartomas have not been associated with any known cancer predisposition syndrome. DICER1 syndrome is a well-characterized cancer predisposition syndrome caused by a germline mutation in the DICER1 gene, which shows variable expressivity. To our knowledge, spinal hamartoma has never been described in individuals with DICER1 syndrome. Here, we describe a rare association of congenital spinal hamartoma and DICER1 syndrome in a 5-week-old infant, with molecular findings suggestive of the implication of DICER1 in the pathogenesis of this tumor. |
| first_indexed | 2024-04-12T06:08:52Z |
| format | Article |
| id | doaj.art-e1f7a7e9f5a4475eb154b1f25fccb8a2 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-12T06:08:52Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-e1f7a7e9f5a4475eb154b1f25fccb8a22022-12-22T03:44:46ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-08-011210.3389/fonc.2022.963768963768Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case reportRawan Hammad0Rawan Hammad1Winnie Lo2Haiying Chen3Manohar Shroff4David Malkin5Anita Villani6Avram Denburg7Division of Pediatric Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Hematology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, CanadaDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, CanadaDepartment of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Pediatric Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Pediatric Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Pediatric Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, CanadaCongenital spinal hamartomas are rare benign tumors. They are mostly seen in infants and are typically asymptomatic at presentation. Spinal hamartomas have not been associated with any known cancer predisposition syndrome. DICER1 syndrome is a well-characterized cancer predisposition syndrome caused by a germline mutation in the DICER1 gene, which shows variable expressivity. To our knowledge, spinal hamartoma has never been described in individuals with DICER1 syndrome. Here, we describe a rare association of congenital spinal hamartoma and DICER1 syndrome in a 5-week-old infant, with molecular findings suggestive of the implication of DICER1 in the pathogenesis of this tumor.https://www.frontiersin.org/articles/10.3389/fonc.2022.963768/fullcongenital midline spinal hamartomaDICER1infantcase reportcancer predisposition |
| spellingShingle | Rawan Hammad Rawan Hammad Winnie Lo Haiying Chen Manohar Shroff David Malkin Anita Villani Avram Denburg Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report Frontiers in Oncology congenital midline spinal hamartoma DICER1 infant case report cancer predisposition |
| title | Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report |
| title_full | Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report |
| title_fullStr | Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report |
| title_full_unstemmed | Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report |
| title_short | Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report |
| title_sort | congenital midline spinal hamartoma in an infant with dicer1 syndrome a case report |
| topic | congenital midline spinal hamartoma DICER1 infant case report cancer predisposition |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.963768/full |
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