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. 2023 Jul 19;15(14):3681.
doi: 10.3390/cancers15143681.

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

Claudio Spinelli  1 , Marco Ghionzoli  1 , Linda Idrissi Sahli  1 , Carla Guglielmo  1 , Silvia Frascella  1 , Silvia Romano  2 , Carlo Ferrari  3 , Fabrizio Gennari  3 , Giovanni Conzo  4 , Riccardo Morganti  5 , Luigi De Napoli  6 , Lucia Quaglietta  7 , Lucia De Martino  7 , Stefania Picariello  7 , Anna Grandone  8 , Caterina Luongo  8 , Antonella Gambale  9   10 , Armando Patrizio  11 , Poupak Fallahi  12 , Alessandro Antonelli  13 , Silvia Martina Ferrari  14
Affiliations

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

Claudio Spinelli et al. Cancers (Basel). .

Abstract

DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients' outcomes, especially for further neoplasms, which are entailed in this syndrome. For this reason, herein we present a multicenter report of DICER1 syndrome, with the prospective aim of enhancing post-surgical surveillance. A cohort of seven patients was collected among the surgical registries of Pediatric Surgery at the University of Pisa with the General and Oncologic Surgery of Federico II, University of Naples, and the Pediatric Surgery, Regina Margherita Hospital, University of Turin. In each case, the following data were analyzed: sex, age at diagnosis, age at first surgery, clinical features, familial, genetic investigations, and follow-up. A comprehensive literature review of DICER1 cases, including case reports and multicenter studies published from 1996 to June 2022, was performed. Eventually, the retrieved data from the literature were compared with the data emerging from our cohort of patients.

Keywords: DICER1; children; genetic mutation; neoplasms; surgery.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Illustration of miRNA biogenesis dysregulation in cancer.
Figure 2
Figure 2
Map of international cases—Map of the international distribution of DICER1 syndrome cases [1,1,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80]. [Bing technology, ©Australian Bureau of Statistics, GeoNames, Geospatial Data Edit, Microsoft, Navinfo, OpenStreetMap, TomTom, Wikipedia].
Figure 3
Figure 3
Age distribution at DICER1 syndrome diagnosis in the literature review [1,1,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,78,79,80].
Figure 4
Figure 4
On a marked line chart, age at first surgery (white circles—single line) and age distribution at DICER1 diagnosis (grey circles—dashed line) are reported for institutional cases.
See this image and copyright information in PMC

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