Bilateral first branchial cleft anomaly with evidence of a genetic aetiology

González-Pérez, L.M.; Prats-Golczer, Victoria-Eugenia; Carmona, J; Ortega, Juan

doi:10.1016/j.ijom.2013.05.026

Cited by 10 publications

(5 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Branchial cleft cyst is a rare disease of the head and neck, and although present at birth, many cases do not become apparent until later in childhood or adolescence. 13 The term ‘branchial cleft cyst’ refers to lesions that can be considered synonymous with the cervical lymphoepithelial cyst. 14 Considering the embryogenic origin, the location of the first branchial cleft cyst will be in the vicinity of the external auditory canal, parotid gland or the angle of the mandible.…”

Section: Discussionmentioning

confidence: 99%

Warthin-like mucoepidermoid carcinoma of the parotid gland: a clinicopathological analysis of two cases

Lei

Yang

2022

J Int Med Res

View full text Add to dashboard Cite

Mucoepidermoid carcinoma (MEC) is the most common malignant tumour of the salivary gland, primarily involving the parotid gland. Here, the cases of two patients, aged 47 and 67 years, respectively, who underwent surgery for pathologically confirmed Warthin-like MEC of the parotid gland between January 2019 and December 2019 in Anyang Tumour Hospital, are described. In each case, the tumour consisted of epithelial and lymphoid cell components, covered with two or more layers of epithelium, with visible scattered mucous cells, and lymphoid stroma with a large number of lymphocytes and germinal centres formed. Most importantly, the tumours lacked the well-organized, bilayered oncocytic epithelial structure that is characteristic of Warthin’s tumour. Mastermind like transcriptional coactivator 2 ( MAML2) gene rearrangements were identified in the tumour cells using break-apart fluorescence in situ hybridization (FISH) probes, confirming the diagnosis of Warthin-like MEC. Post-operatively, patients have remained disease free for 31 and 27 months, respectively. Warthin-like MEC of the parotid gland is rare and is often misdiagnosed as metaplastic Warthin’s tumour. Diagnosis depends mainly on the unique clinicopathologic features together with FISH analyses.

show abstract

Section: Discussionmentioning

confidence: 99%

Warthin-like mucoepidermoid carcinoma of the parotid gland: a clinicopathological analysis of two cases

Lei

Yang

2022

J Int Med Res

View full text Add to dashboard Cite

show abstract

“…The widely accepted branchial theory is closely related to the development and differentiation of the branchial arches, involving incomplete obliteration of the branchial clefts during embryogenesis. Although some case reports have indicated a possible genetic etiology, the etiology of FBCAs has rarely been examined at the molecular level 6 …”

Section: Introductionmentioning

confidence: 99%

“…Although some case reports have indicated a possible genetic etiology, the etiology of FBCAs has rarely been examined at the molecular level. 6 …”

Section: Introductionmentioning

confidence: 99%

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing

Yang

Liu

Jin

et al. 2021

Pediatric Investigation

View full text Add to dashboard Cite

Importance First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level. Objective To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children. Methods We performed whole‐exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow‐Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit. Results We identified 14 non‐synonymous mutations in seven potential FBCA‐susceptibility genes (TRAPPC12, NRP2, NPNT, SH3RF2, RHPN1, TENM4, and ARMCX4). We also detected 133 shared small indels in 125 genes. Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development. Interpretation We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular‐level support for the branchial theory of FBCA pathogenesis.

show abstract

“…Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered rarely. [1] Branchial anomalies comprise approximately 20% of pediatric congenital head and neck lesions. [2] Here, I report a case of branchial cleft cyst situated in a location which corresponds to its origin that is from the second branchial arch.…”

Section: Introductionmentioning

confidence: 99%

Branchial cleft cyst

Nahata¹

2016

Indian J Dermatol

View full text Add to dashboard Cite

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

show abstract

Bilateral first branchial cleft anomaly with evidence of a genetic aetiology

Cited by 10 publications

References 9 publications

Warthin-like mucoepidermoid carcinoma of the parotid gland: a clinicopathological analysis of two cases

Warthin-like mucoepidermoid carcinoma of the parotid gland: a clinicopathological analysis of two cases

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing

Branchial cleft cyst

Contact Info

Product

Resources

About