Abstract
Background
Diagnosis of maxillary sinus pathology must include the clinical radiological study (CRS) and histopathological analysis. The aim of this study is 1) to describe the ...clinicopathological features of maxillary sinus lesions, obtained successively in a single medical centre over the last 10 years and 2) to determine the sensitivity and specificity for the diagnosis of malignant lesions based exclusively on the CRS.
Methods
It is a single-centre observational retrospective clinical study on patients who attended the University Hospital Complex of Santiago de Compostela (CHUS) with sinus pathologies during the period of 2009–2019.
Results
The sample consisted of 133 men (62.1%) and 81 women (37.9%), with an average age of 46.9 years (SD = 18.8). In terms of frequency, the most frequent pathology was the unspecified sinusitis (44.4%), followed by polyps (18.2%), malignant tumours (9.8%), inverting papilloma (7.5%), fungal sinusitis (4.7%), cysts (3.7%), benign tumours (2.3%), mucocele (2.3%) and other lesions (1.9%). Cysts and benign tumours were diagnosed earliest Vs malignant tumours (65.2 years (SD = 16.1)) were diagnosed the latest (
p
< 0.001). Based only on the CRS for malignancies, diagnostic indexes were 71.4% sensitivity and 97.9% specificity, with a Kappa value of 0.68 with (
p
< 0.001).
Conclusion
Maxillary sinus pathology is very varied with therapeutic and prognostic repercussions. CRS is sometimes insufficient and histopathological confirmation is essential.
Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a ...mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.
Cherubism; SH3BP2; Expressivity.
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