Branchial Cyst Research Articles

Efficiency of Fine-Needle Aspiration (FNA) in Relation to Tru-Cut Biopsy of Lateral Neck Swellings.

Background Lateral neck masses have always been difficult to diagnose without proposing a differential diagnosis. Fine-needle aspiration (FNA) was proposed to be a cost-effective method and less invasive than a tru-cut biopsy and may provide a provisional diagnosis in relation to cytopathology. FNA has also been shown to improve the diagnosis of neck masses such as cervical lymphadenopathy, neck cysts, and parotid masses, whether malignant or benign. This study aims to evaluate the accuracy of FNA cytopathology versus a tru-cut biopsy histopathological examination. Materials and methods This study was conducted retrospectively in King Hussein Medical Hospital, Royal Medical Services, Hashemite Kingdom of Jordan, from January 2019 to January 2024. Ethical approval was taken to conduct this study with reference number 06/2024. All patients included in this study have given verbal and written consent to perform FNA and surgical tru-cut biopsy. The inclusion of patients was based on any person above the age of 16 who underwent an FNA followed by a surgical biopsy to correlate with the primary diagnosis. Exclusion criteria involved any patient who missed one of the above criteria. Statistical analysis was performed using IBM SPSS v29 (IBM Corp., Armonk, NY, US) with significant results considered with a p-value <0.05. Results A total of 107 patients were included in this study. A correlation between FNA results and final histopathological biopsy was done with an accuracy of 90.6%, specificity of 94.3, predictive positive value of 73.6%, andnegative predictive value of 94.3%. There was a statistical significance between FNA and tru-cut biopsy with a p-value of <0.001. Conclusion FNA is a great tool to consider when diagnosing lateral neck swellings. Since it was statistically significant, FNA should be considered for any lateral neck swelling before any surgical tru-cut biopsy for a definitive diagnosis.

Trans-Disc Aspiration of Anterior Cervical Cysts

Abstract Background Spinal arachnoid cysts are rare entities occurring mainly in the cervical and thoracic spine. The majority of these lesions are treated through posterior approaches with laminectomy or laminotomy. We present trans-disc and trans-vertebral aspiration of anterior cervical arachnoid cysts as an alternative therapeutic approach. Methods We present three cases and four procedures where anterior cervical arachnoid cysts were treated through an anterior trans-discal or trans-vertebral approach. A standard Smith–Robertson approach was used to expose the appropriate level in the cervical spine. A 22-gauge spinal needle is passed through the intervertebral disc or a 3-mm channel created in the midline of the vertebral body. This is performed under fluoroscopic guidance. Results Three out of the four procedures resulted in complete clinical resolution at a 6-month follow-up. One patient required a repeat aspiration for a recurrent cyst at a level lower than the previous procedure. One patient had an initial improvement post-procedure followed by a functional decline within the first 5 postoperative days. Our assessment was that the cyst was re-filled and this was confirmed on magnetic resonance imaging (MRI). A standard posterior approach was used to excise the cyst with a good clinical result. Overall, no morbidity was suffered from the anterior approach. Conclusion We believe this approach is a safe alternative to posterior intradural approaches. MRI scanning is advised at 6 months or earlier if clinical improvement is not demonstrated.

Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants

Objective:To investigate the clinical phenotype of a family with branchio-oto syndrome （BOS） and to explore the genetic etiology of the syndrome in this family. Methods:Clinical data were collected from a child diagnosed with BOS and his family members. Genomic DNA was extracted from peripheral blood of the proband and his family members. Whole-exome sequencing was performed, and the mutation sites were verified and analyzed by Sanger sequencing. Results:The family consists of two generations with four members, three of whom exhibit the phenotype. Two members have hearing loss and bilateral preauricular fistulas and bilateral branchial cleft fistulas. One member has bilateral preauricular fistulas and bilateral branchial cleft fistulas. All of which were in line with the clinical diagnosis of gill ear syndrome, the inheritance mode of the family was autosomal dominant inheritance, genetic testing showed that all members of the family had c. 1744delC（p. L592Cfs*47） mutation in the EYA1 gene, while unaffected members have the wild-type allele at this locus. This mutation is a frameshift mutation, which results in the early appearance of the stop codon, and has not been reported so far. According to ACMG guidelines, the variant was preliminarily determined to be suspected pathogenic. Conclusion:The newly discovered EYA1c. 1744delC（p. L592Cfs*47） mutation in this family is the pathogenic mutant gene of the patients in this family, which further expands the mutation spectrum of EYA1 gene, gives us a new understanding of the disease, and provides an important reference for clinical diagnosis and genetic counseling.

Robot‐assisted resection of lateral neck cysts using a postauricular approach

Robot‐assisted resection of lateral neck cysts using a postauricular approach

Case Report: A case of metastasis to branchial cleft cyst from papillary thyroid cancer

Branchial cleft cysts are frequently encountered congenital anomalies, arising from the first to fourth pharyngeal clefts and second branchial cleft anomalies are the most common. These anomalies, even though present from birth, become symptomatic only later in life. Majority of them are benign in nature. However, these cysts can get secondarily infected or can harbour secondary metastases and sometimes even primary malignancy in very rare cases. Here we discuss a case of a middle-aged female presenting with a gradually increasing branchial cleft cyst with incidental thyroid lesion on ultrasonography, later proven to be papillary thyroid carcinoma with metastatic spread to the brachial cleft cyst.

Atypical Presentation of Idiopathic Intracranial Hypertension: A Case Series and Literature Review.

Idiopathic intracranial hypertension (IIH) is a condition in which intracranial pressure (ICP) increases without an apparent cause. Typically, patients present with headaches, dizziness, pulsatile tinnitus, visual disturbances, blurred vision, diplopia, photophobia, visual field defects, and papilledema on fundoscopy. The association between IIH, spontaneous cerebrospinal fluid (CSF) rhinorrhea, and arachnoid cysts has been discussed in the literature; however, there is no clear explanation for this association. We aimed to present a series of four patients with a confirmed diagnosis of IIH with atypical presentations, discuss the management of each case, and provide an explanation for this association to alert clinicians to the atypical presentation of IIH and facilitate early diagnosis and proper treatment of this condition by CSF diversion. This was a retrospective case series of all patients who were diagnosed with IIH and showed improvement after ventriculoperitoneal shunt insertion after failure of at least one operative intervention resulting from primary radiological and clinical findings in 2001 to 2022. Data on demographics, clinical presentation, radiological findings, surgical management, and diagnostic criteria for IIH were recorded. We identified four patients with a confirmed diagnosis of IIH who presented with atypical presentations as follows: intracranial arachnoid cyst, cervical spine arachnoid cyst, giant Virchow perivascular space, and spontaneous CSF (CSF) rhinorrhea. All patients responded to CSF diversion after failure of surgical treatment targeting the primary pathology. IIH should be suspected after the failure of primary surgical treatment in cases of spontaneous CSF rhinorrhea, spinal and cranial arachnoid cysts, and symptomatic ventriculoperitoneal shunt. Treatment in such situations should be directed toward IIH with CSF diversion.

Nasopharyngeal cyst of branchiogenic origin: a rare case report

Nasopharyngeal branchial cysts present laterally as well as ascend from the fossa of Rosenmuller and trace superiorly inside the bony immures of the pharyngotympanic tube. Other commonly related disease conditions with respect to nasopharyngeal cyst include the Rathke’s pouch cyst, Thornwaldt cyst from the pharyngeal bursa along with the branchial cleft cyst. Here in our study, we report a case of a 25-year-old male presented with symptoms of snoring for the past 2 years. On zero-degree endoscopic examination, a nasopharyngeal mass was seen arising from the lateral wall of the nasopharynx extending to the oropharynx. Further based on his radiological investigations, a localized non-enhancing nasopharyngeal cystic mass was seen extending from the left lateral wall of nasopharynx to oropharynx and was diagnosed as nasopharyngeal cyst. Thus, the surgical removal of the nasopharyngeal cyst has been performed through a transoral endoscopic technique with no remnants at the surgical site. The histopathological findings revealed stratified squamous epithelium with subepithelial infiltration of lymphoid follicles, thus confirming the diagnosis as branchial cleft cyst. The patient was discharged with no complications and have been periodically advised for a follow-up. Conclusively, the cyst of 2nd branchiogenic origin in the nasopharynx is extremely sporadic and till date, only a small number of cases have been reported.

A case of a giant Bailey type I lateral cervical cyst

AbstractBackgroundLateral cervical cysts are among the most frequent branchial anomalies of the neck, although they rarely become large.Case presentationThe present case involved a 32‐year‐old man with swelling of the right side of the neck. Pre‐operative CT findings showed a low CT value on the right side of the neck. Lateral cervical cyst removal was performed under general anesthesia, and the excision was 100 mm × 70 mm × 30 mm, which is the largest ever reported removal of a Bailey type I lateral cervical cyst.ConclusionThe patient had a good clinical course, with no post‐operative recurrence.

Cervical CUP Syndrome: Diagnosis and Therapy

In CUP syndrome (CUP = cancer of unknown primary) there are 1 or more metastases of a primary tumor that cannot be localized despite extensive diagnostics. CUP syndrome accounts for 5% of all human malignancies, making it one of the 10 most common forms of cancer. In addition to inflammatory lymph node enlargement and benign changes such as cervical cysts, lymph node metastases are among the most common cervical masses. Cervical CUP syndrome is a histologically confirmed cervical lymph node metastasis with an unknown primary tumor. In addition to anamnesis, clinical examination and histological confirmation, diagnostics include radiological imaging using PET-CT and panendoscopy with histological primary tumor search. Treatment options include surgical therapy with neck dissection and chemoradiotherapy.

Metastatic Papillary Thyroid Microcarcinoma Presenting as a Branchial Cleft Cyst in Young Female.

Though aetiology of lateral neck masses is complex, branchial cleft cyst is the second most common congenital lesions of the neck next only to thyroglossal duct cysts. Rarely ectopic thyroid tissue within a branchial cleft cyst may develop into primary papillary carcinoma, and even more rarely it may harbour metastases of primary thyroid papillary carcinoma. We report a rare case of lateral cystic neck mass in a 24-year-old female patient diagnosed as metastatic PTC. The patient was diagnosed after she underwent surgical excision of branchial cleft cyst. Later prospectively the patient underwent total thyroidectomy which revealed papillary thyroid micro invasive carcinoma.

Branchial Cyst Masquerading as Myositis and Abscess of Sternocleidomastoid Muscle and Necrotic-Cystic Lymphadenopathy.

Branchial cleft cysts are considered one of the most common cystic lesions in neck and are commonly seen in pediatric age group and young adulthood with most of the cases presenting within second and third decade. Here we intend to discuss a case of a 43year old male who presented with a very short history of a painful lateral neck mass and was clinico-radiologically suggested as either myositis and abscess of sternocleidomastoid muscle or necrotic/cystic lymphadenopathy. An ultrasound guided needle aspiration cytology did not show any microorganism thus an excisional biopsy of the mass was done suspecting it to be lymph nodal mass. However the histopatholgical examination confirmed it to be an inflamed branchial cyst. Thus we would like to highlight the importance of keeping branchial cleft cysts as a possible differential while managing lateral neck masses of any duration in adults as well as in children.

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

ObjectiveBranchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or cysts, as well as renal abnormalities.This study aims to identify the pathogenic variants by performing genetic testing on a family with Branchio-oto-renal /Branchio-otic (BO, OMIM#602,588) syndrome using whole-exome sequencing, and to explore possible pathogenic mechanisms.MethodsThe family spans 4 generations and consists of 9 individuals, including 4 affected by the BOR/BO syndrome. Phenotypic information, including ear malformation and branchial cleft, was collected from family members. Audiological, temporal bone imaging, and renal ultrasound examinations were also performed. Whole-exome sequencing was conducted to identify candidate pathogenic variants and explore the underlying molecular etiology of BOR/BO syndrome by minigene experiments.ResultsIntra-familial variability was observed in the clinical phenotypes of BOR/BO syndrome in this family. The severity and nature of hearing loss varied in family members, with mixed or sensorineural hearing loss. The proband, in particular, had profound sensorineural hearing loss on the left and moderate conductive hearing loss on the right. Additionally, the proband exhibited developmental delay, and her mother experienced renal failure during pregnancy and terminated the pregnancy prematurely. Genetic testing revealed a novel heterozygous variant NM_000503.6: c.639 + 3 A > C in the EYA1 gene in affected family members. In vitro minigene experiments demonstrated its effect on splicing. According to the American College of Medical Genetics (ACMG) guidelines, this variant was classified as likely pathogenic.ConclusionThis study highlights the phenotypic heterogeneity within the same family, reports the occurrence of renal failure and adverse pregnancy outcomes in a female patient at reproductive age with BOR syndrome, and enriches the mutational spectrum of pathogenic variants in the EYA1 gene.

Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome

Objective: To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome. Methods: The temporal CT findings and clinical features observations of 13 patients with Branchio-Oto-Renal Syndrome (BORS) or Branchio-Oto Syndrome(BOS) confirmed by genetic testing were retrospectively analyzed. There were 8 males and 5 females, aged from 1 to 39 years, with a median age of 9 years, in which 3 pairs (6 cases) were parent-child relationship. Results: All of 13 cases had hearing loss and preauricular fistula, 11 cases accompanied by 2nd branchial fistulas. There were 20 ears of mixed hearing loss, 3 ears of sensorineural hearing loss, and 2 ears of conductive hearing loss. The mutation point of gene testing was located in EYA1 in 12 cases and SIX1 in 1 case. Twenty ears showed gradually narrowing of the diameter of basal turn, with hypoplasia in the second turn and aplasia in apical turn. There were irregular wall of vestibule and horizontal semicircular canal in 10 ears,widened vestibular in 7 ears, and vestibular fusion with horizontal semicircular canal in 3 ears. Three ears had an enlarged vestibular aqueduct, 8 ears showed enlargement of internal auditory canal. Seventeen ears had adhesion of malleolus to tympanic cavity. Six ears could not measured the incudostapedial joint angle by reason of tympanic inflammatory cover, 3 ears could not show incudostapedial joint, and 8 ears showed the incudostapedial joint angle more than 122°. Six ears showed poor oval window, and 1 ear had poor round window. Eighteen ears showed distended eustachian tube, and accompanied by tympanic or mastoiditis in 11 ears. Anterolateral shift of tympanum was found in 22 ears, 17 ears had low middle cranial fossa, and 3 ears had stenotic external auditory canal. Conclusions: Cochlear dysplasia, ossicular chain malformation and distended eustachian tube comprise the characteristic CT signs of BOS/BORS, which possesses versatile and complex CT findings. Temporal CT can accurately assess the important structures such as cochlea, ossicles, vestibule, semicircular canal, vestibular aqueduct and internal auditory canal. Combing with the clinical characteristics of bilateral, mixed hearing loss, preauricular fistula and branchial fistula can provide valuable information for early diagnosis and treatment.

Clinical Analysis of 76 Cases of Second Branchial Cleft Fistula.

Objective: To provide the experience of diagnosis and treatment of second branchial cleft fistula in children. Methods: The clinical data of 76 children with second branchial cleft fistulas admitted to Beijing Children's Hospital affiliated with Capital Medical University from January 2016 to December 2020 were retrospectively analyzed. All patients underwent cervical ultrasonography and resection of the second branchial cleft fistula, and their clinical manifestations, surgical methods, complications, recurrence condition, and lesion appearance of the patients were analyzed. Results: Among the 76 cases, the lesions of 43 cases were on the right side, 20 were on the left side, and 13 were bilateral, for a total of 89 lesions. There were 49 type I lesions, 28 type II lesions, 8 type III lesions, and 4 type IV lesions. Type I and type II cases underwent complete excision of the fistula through a small incision in the neck; 2 cases of type III branchial cleft fistulas were treated with trapezoidal incision; 2 cases of type III branchial cleft fistulas underwent single transverse incisions; single small incision-assisted endoscopic resection was adopted in 4 cases of type III and 4 cases of type IV branchial cleft fistulas. During the follow-up period of 6 to 60 months, only 3 cases developed postoperative infection, the others had no postoperative complications, and no cases had recurrence during postoperative follow-up. Conclusion: The incision of the second branchial fistula should be selected according to imaging examination to achieve removal of the fistula while maintaining esthetics.

Multiple Disseminated Hydatidosis with Rare Locations: Mediastinal, Pancreatic and Pelvic (Case Report)

Hydatid disease is an anthropozoonosis due to the development of the larval form of Echinococcus granulosus in the human body, which constitutes a ‘dead-end’ host. It’s a common parasitosis in North African countries and constitutes a public health problem in Morocco. The liver and lung are the most affected while the mediastinum, pancreas and pelvis are rarely affected. We report the case of a 40-year-old patient operated 15 yearsago for cerebral and cervical hydatid cysts and who was hospitalized for generalized mucocutaneous jaundice. On exploration, we discover the presence of disseminated abdominal hydatidosis with association of 3 rare locations: mediastinal, pancreatic and pelvic. Indirect diagnostic tests were positive: indirect hemagglutination (IHA) and Elisa. The Western blot test also showed the presence of specific bands, thus making it possible to retain the diagnosis of hydatidosis. The hydatid cyst with mediastinal, pancreatic and pelvic location is rare and their association is very exceptional. It is essential to evoke the hydatid origin of any cystic lesion in a patient staying in an endemic area.

Validation of the VisionArray® Chip Assay for HPV DNA Testing in Histology Specimens of Oropharyngeal Squamous Cell Carcinoma

BackgroundThe detection of human papillomavirus (HPV) has several implications in the diagnostic work-up and management of oropharyngeal squamous cell carcinoma (OPSCC). The choice of HPV detection assay and testing algorithms differ across institutions and vary in cost, detection targets, technical feasibility, and turnaround time. In this study, we aimed to validate the VisionArray® HPV Chip for formalin-fixed and paraffin-embedded (FFPE) samples of OPSCC using the previously applied standard pan-HPV DNA PCR assay as a reference.MethodsThe validation cohort consisted of FFPE tissue samples from patients previously diagnosed with HPV DNA-positive OPSCC (n = 80), HPV DNA-negative OPSCC (n = 21), and a benign group of tumor samples consisting of Warthin’s tumors (n = 20) and branchial cleft cysts of the lateral neck (n = 14). All samples were tested with p16 immunohistochemistry, pan-HPV DNA PCR, and the VisionArray® HPV Chip.ResultsThe overall sensitivity and specificity of the VisionArray® HPV Chip assay were 100% [95% CI 95.5%; 100.0%] and 96.3% [95% CI 87.3%; 99.6%] and the positive predictive value and negative predictive value were 97.6% [95% CI 91.5%; 99.7%] and 100% [95% CI 93.2%; 100%], respectively.ConclusionsThe VisionArray® HPV Chip assay can be recommended for high-risk HPV testing in FFPE tissue samples from OPSCC, providing both a fast and simultaneous genotyping for 41 clinically relevant HPV types.

A Rare Case of Bilateral Second Arch Branchial Fistulae; A Case Report.

Branchial arch anomalies are considered congenital defects that can occur during fetal development. They may present as cysts, sinuses, or fistulae. Anomalies of the second branchial arch are the most common. The existence of bilateral complete fistulae is exceptionally rare. In this case report, a 5-year-old boy presented with recurrent episodes of bilateral neck swelling and watery discharge from openings on the anterolateral sides of his neck since birth. He was diagnosed with bilateral branchial fistulae after confirmation via a contrast-enhanced CT scan. Surgery was performed to entirely excise the fistula tracts bilaterally. Additionally, a bilateral tonsillectomy was performed to help prevent recurrence.

Diagnostic spectrum of cysts of head and neck: Case series and review of literature

One of the foremost problems that brings patients to Otorhinolaryngology clinics are cystic swellings in the head and neck region. We aimed to study the presentation, configuration of cystic swellings of head and neck for diagnosis and management. A retrospective study of 30 patients belonging to diverse age group and presenting with complaints of swelling in the craniofacial domain to the otorhinolaryngology outpatient department was conducted. Based on the characterization of cystic swellings of head and neck, most turned out to be usually benign. The most common cyst was epidermoid cyst (56%), followed by second arch branchial cyst (26%). A single case each of nasopalatine cyst and intra-parotid lymphatic cyst was also reported. Swellings in the head and neck can have various presentations. Cytologic examination of head and neck cysts along with pre-operative clinical examination and imaging offer imperative information concerning the nature of the cystic lesions, and may rarely lead to any misdiagnosis.

Voluminous Amygdaloid Cyst: A Case Report

Amygdaloid cysts also known as lymphoepithelial cysts or branchial cleft cysts are rare and benign dysembryological cystic tumors that develop in the antero-lateral part of the neck; they represent 2% of laterocervical tumors of the neck. Originating from the second branchial cleft, due to the persistence of the cervical sinus during the differentiation of the branchial apparatus. We report the case of a 34-year-old man who consulted for a huge right laterocervical swelling that had been gradually increasing in volume for 8 months without any other associated symptoms. A cervicotomy and a complete resection of the cyst was performed, histopathological examination of the surgical specimen confirmed the diagnosis of the amygdaloid cyst without signs of malignancy. The aims of this study are to analyze the anatomo-clinical features and to discuss the modalities of care and the therapeutic indications of this affection.

Management of a recurrent third branchial arch fistula using combined endoscopic and open approach

Branchial cleft anomalies are rare, congenital lesions, that occur due to the maldevelopment of the branchial apparatus, during fetal maturation. Anomalies of the third and fourth arch contribute to a very small proportion of these. Most cases are detected in childhood, either as a cyst, sinus or fistula in the neck. Some of the common treatment approaches to third branchial cleft fistulas include endoscopic cauterization, open cervical fistulectomy and, in cases of recurrence, selective neck dissection. Here, we present a case of recurrent branchial fistula of the third arch, wherein we used a combined cervical and intraoral approach, conserving the thyroid cartilage, to achieve a complete excision of the fistula tract.