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51

ICAR SINONASAL TUMORS

TABLE V.7 Evidence surrounding genetic and other inherited traits as risk factors for sinonasal malignancies.

Clinical endpoints

Study

Year LOE Study design Study groups

Conclusion

Bell et al. 107

2016 3

Case–control

42 ACCs and five controls

Mutation profile The highly expressed

developmental genes EN1 , DLX6 , and OTX1 stand out as drivers for ACC 82.1% SCCs were EGFR positive and its expression was associated with significantly shorter DFS

Takahashi et al. 103

2014 3

Case–control

70 SNSCC specimens and 28 matched-pair controls 404 ONB patients from multicenter database (12 institutions in the United States of America, the United Kingdom, and Europe) melanoma patients with tissue available for 25-gene panel ( n = 25) Sinonasal mucosal

1. OS 2. DFS 3. Mutation profile 1. OS 2. DFS 3. Mutation profile

Lechner et al. 111

82.4% of the cohort were positive for SSTR2

2021

4

Retrospective case series

Colombino and Paliogiannis 122

2019 4

Retrospective case series

1. Mutation profile 2. DNA damage 3. Genetic mutation correlation withhigh mitotic rate

1. BRAF (32%) was the most common mutation, followed by KIT and RAS 2. 28% had evidence of UV damage versus 90% in cutaneous melanoma 3. Nine out of 11 (82%) patients with high mitotic rate had pathologic mutation NOTCH1 mutations were identified in ACC and associated with higher likelihood of solid subtype, advanced-stage disease at diagnosis, higher rate of liver and bone metastasis, shorter RFS, and shorter OS when compared with NOTCH1 wild-type tumors 1. NRAS (22%) and KIT (13%)were most common 2. Amplification of RREB1 (100%) and loss of MYB (765) in many cases 3. KIT protein expression in 97% cases 4. MAPK and PI3K/Akt pathways were activated in all cases (100%) 5. No mutational profile was associated with OS difference 1. No difference in OS based on mutation 2. NRAS (14%) was most common mutation, followed by BRAF and KIT (4%each) 3. More likely to have mutation ( NRAS , KIT , or BRAF ) in paranasal sinus primary 4. Worse OS in paranasal sinus primary

Ferrarotto et al. 108

2017 4

Retrospective case series

102ACCs

1. Mutation profile 2. OS 3. RFS

Turri-Zanoni et al. 123

2013 4

Retrospective case series

Sinonasal mucosal

1. OS 2. Mutation profile

melanoma patients with tissue available for IHC, FISH, and DNA sequencing ( n = 32)

Zebary et al. 124

1. OS 2. Mutation profile

2013 4

Retrospective case series

Sinonasal mucosal

melanoma patients with tissue available for mutation screening ( n = 56)

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