Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1
Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with pathogenic germline variation. They can be locally destructive and recurrent if not completely resected. In this single-center, case-control study, otorhinolaryngology evaluations and review of systems questionnaires o...
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| Published in: | Rhinology (Amsterdam) Vol. 3; no. 3; pp. 15 - 24 |
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| Main Authors: | , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Netherlands
Stichting NASE
01-01-2020
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with
pathogenic germline variation. They can be locally destructive and recurrent if not completely resected.
In this single-center, case-control study, otorhinolaryngology evaluations and review of systems questionnaires of
-carriers and controls enrolled in the
Natural History Study at the National Cancer Institute were collected. Review of these medical records were analyzed to determine if
1-carriers experienced different sinonasal clinical manifestations compared to controls. Additionally, the number of diagnoses of nasal chondromesenchymal hamartoma cases in the NCI
study was compared against the total person years of observation of
-carriers in the study to determine the total number of cases per person-years of observation. Lastly, both the NCI
study and the International Pleuropulmonary Blastoma/
Registry were queried for unpublished cases of nasal chondromesenchymal hamartomas.
There were no clinical differences in sinonasal symptomatology between
-carriers and control patients seen in the ENT clinic. We observed of two cases of nasal chondromesenchymal hamartoma in a total of 555 person-years of monitoring
-carriers. We include six unpublished nasal chondromesenchymal hamartoma cases. When combined with a comprehensive literature review, 38% of nasal chondromesenchymal hamartoma cases had at least one additional
-associated tumor and 24% of the NCMH were found in the ethmoid sinus, the most commonly involved paranasal sinus.
We quantify the risk of developing nasal chondromesenchymal hamartomas in our cohort of 236
-carriers, report six unpublished cases, and provide an updated review of the literature. |
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| Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 LV analayzed the data, performed statistical analysis, prepared the manuscript, tables and figures and coordinated for submision. AN collected the original clinical information and created a usable data file for review. LH is the coordinator for the clinical trial and is responsible for ensuring clinical documentation is maintained on the particpants, including consents, and was responsible for collecting the pathologic and radiologic imaging. AB oversaw the statistical analysis and provided instruction on determining person-years. AG collected and analyszed the genetic variants. AH and KS provided additional cases of NCMH from the PPB registry. MM reviewed all of the pathology of the tumor samples and provided the pathology imaging. HK saw each patient in the otolaryngology clinic and provided the clinical information reviewed for data collection. DS is the principle investigator on the protocol and oversaw LV during every step of data analysis and manuscript production. KS, HK and DS additionally provided mentorship and guidance during the manuscript prouction. All authors read and approved the final manuscript. Authorship contribution These authors contributed equally |
| ISSN: | 2589-5613 2589-5613 |
| DOI: | 10.4193/RHINOL/20.007 |