Branchial Cleft Research Articles

Nasal dermoid sinus cyst with intracranial extension and atretic sinus tract in an adult patient

Nasal dermoid sinus cyst (NDSC) is a rare congenital lesion due to cephalic neural tube defect. It may also have been seen in other parts of the body. NDSC constitutes 1–3% of all dermoid cysts and 11–12% of those in the head and neck. A NDSC is located in the median line of the nasofrontal region from the glabella to the columella. The differential diagnosis based on location includes epidermal inclusion cyst, glioma, meningomyelocele, meningoencephalocele, teratoma, teratoid cyst, thyroglossal duct cyst, branchial cleft cyst, and benign lymphadenopathy. Intracranial extension causes serious complications such as meningitis, osteomyelitis, abscess formation, hydrocephalus, seizures, and personality changes. All patients with NDSC should be considered to have a potential intracranial extension and should, therefore, undergo pre-operative radiological evaluation. Herein, the authors report an unusual adult patient with NDSC with intracranial extension.

Analysis of 15 children with type Ⅳ branchial cleft cyst treated with endoscopic transoral approach

Objective: To analyze the clinical characteristics and endoscopic surgical procedures of the second branchial cleft cyst type Ⅳ in children. Methods: A retrospective review was conducted on 15 pediatric cases with type Ⅳ second branchial cleft cysts treated at the Beijing Children's Hospital affiliated with Capital Medical University and Henan Children's Hospital from September 2019 to November 2023. All patients underwent excision via a two-person, three-hand endoscopic transoral approach. The cohort included 12 males and 3 females, with an age range of 10 months to 10 years and 5 months, and a median age of (59.20±32.05) months. The clinical data of initial symptoms, sides, imaging features, treatment methods, complications, length of hospital stay, prognosis and outcome were recorded and analyzed. SPSS 22.0 software was used for statistical analysis. Results: Of the 15 children, 13 cases presented with snoring as the primary symptom, 1 case with dysphagia, and 1 case was asymptomatic and was found unintentionally. The mean disease duration was (6.74±9.05) months (range, from 3 days-2 years). MRI revealed cystic lesions on the right side in 12 cases and on the left side in 3 cases, characterized by uniform long T2 signal, equal T1 or short T1 signal. The cysts appeared dumbbell-shaped in 10 cases with the pharyngeal constrictor muscle as the waist, the posterior outside of the mass was adjacent to the internal carotid artery. The remaining 5 cases showed an isolated cyst located inside the pharyngeal constrictor muscle. The intraoperative MRI findings were consistent. Partial cystectomy was performed in 10 cases near the internal carotid artery, leaving only the portion with a clear arterial pulse intact. Five cases with isolated cysts on the medial side of the pharyngeal constrictor muscle were totally removed. The average length of hospital stay was (4.53±0.52) days (4-5 days). All patients were followed up for 7-56 months [median (30±15.12) months] with no recurrence of symptoms observed. Conclusions: The second branchial cleft cyst type Ⅳ in children is characterized by prominent pharyngeal cystic mass, with snoring as a predominant initial symptom, MRI provides excellent diagnostic value. The two-person, third-hand endoscopic transoral approach for cyst excision is feasible, safe, and offers the benefits of minimal invasiveness and reduced hospitalization time.

Stat stimulates histone H3K4 methylation via KDM5 inhibition in adult stem cells of budding tunicates.

The branchial epithelium is one of the main tissues in which histone H3K4 trimethylation (H3K4me3) occurs in the budding tunicate, Polyandrocarpa misakiensis. It contains proliferating and undifferentiated cell aggregates at the bottom of each pharyngeal cleft, providing the nest for the adult stem cell niche. We examined the sustainable mechanism enabling epigenetic histone methylation in adult stem cells. Histone H3K4 demethylase (PmisKdm5) was not co-expressed in vivo with the transcription factor, signal transduction and activator of transcription (PmisStat) in the same cells. PmisStat mRNA, when electroporated into zooids, suppressed the gene expression of PmisKdm5 and facilitated the trimethylation of H3K4. A STAT5 inhibitor blocked the nuclear localization of PmisStat. It stimulated PmisKdm5 gene expression irrespective of PmisStat mRNA. The KDM5 inhibitor, CPI-455, stimulated H3K4me3 similarly to PmisStat mRNA. PmisStat mRNA and CPI-455 both induced the gene expression of PmisAp2 and PmisSp8, which were recently identified as budding/regeneration-related genes. When zooid tissues were treated with both CPI-455 and the STAT5 inhibitor, CPI-455 overwhelmed the effects of the STAT inhibitor on PmisAp2 and PmisSp8. PmisStat is involved in epigenetic histone methylation at H3K4 through the inhibition of PmisKdm5. H3K4me3 affects downstream gene expression more directly and strongly than PmisStat.

Type I Branchial Cyst of the Sedunda Cleft Uncommon presentation: Case Report

Introduction: The cyst branchial is a rare tumor as well known as cysts lymphoepithelial, are dysembryological rare and benign second cleft tumors. Tumors cystic that HE develop in the part anterolateral of the neck; represent he 2% of the tumors laterocervical of the neck [1]. Clinical Case: We present he clinical case of a patient male of 37 years, does not report personal pathological history, with a clinical picture of approximately 8 months of evolution approximately characterized by a laterocervical tumor right with progressive growth in size, not accompanied by any other symptoms. Upon examination Physical: A mobile, fluctuating tumor of approximately 5 cm in diameter is observed in the right cervical region III, with no changes in skin color. No symptoms of a sinus or fistulous tract are observed. Discussion: The cyst branchial is a rare tumor and benign second cleft tumors. Tumors cystic that HE develop in the part anterolateral of the neck, represent he 2% of the tumors laterocervical of the neck, proper physical examination determines its prompt diagnosis and surgical treatment [6]. Conclusion: In conclusion, despite their low incidence, third branchial cleft cysts should be included in the differential diagnosis of laterocervical tumors. An adequate history and physical examination, complemented by the indicated imaging tests, will allow establishing a presumptive diagnosis that should be confirmed histologically after surgical resection.

First Branchial Cleft Anomaly Mimicking Cholesteatoma: A Pediatric Case Study and Surgical Approach

First Branchial Cleft Anomaly Mimicking Cholesteatoma: A Pediatric Case Study and Surgical Approach

Right-Sided Fourth Branchial Cleft Cyst in a Neonate: A Case Report and Literature Review

Right-Sided Fourth Branchial Cleft Cyst in a Neonate: A Case Report and Literature Review

7817 A Rare Case of Intrathyroidal Thyroglossal Duct Cyst Presenting as a Rapidly Expanding Left Thyroid Goiter

Abstract Disclosure: C.M. Godar: None. A.J. Spiro: None. K.F. Brown: None. M.K. Shakir: None. T.D. Hoang: None. Introduction: Thyroglossal duct cysts are the most common congenital cyst in the head and neck, found during childhood as a midline neck mass. We present a rare case of a large intrathyroidal thyroglossal duct cyst with left lateral extension in an adult patient. Case Report: A 50-year-old man with family history of familial adenomatous polyposis presented for thyroid nodule evaluation. Thyroid ultrasound for screening of thyroid cancer showed a 4.8 x 4.5 x 2.5cm mixed cystic/solid hyperechoic thyroid nodule with smooth margins in the left lower thyroid lobe. He reported no compressive symptoms. FNA with standard 27G needle was insufficient for evaluation with Bethesda I result. Attempted syringe aspiration did not produce cystic fluid for analysis. The patient returned to clinic 8 weeks later due to visible enlargement of his anterior neck and new neck pressure with swallowing. Physical exam was significant for a new, firm palpable mass over the left thyroid isthmus. Bedside ultrasound noted expansion of the previously visualized mass now extending into the thyroid isthmus. FNA was reattempted with a 25G needle, and cytologic material was again inadequate. He elected to undergo left hemithyroidectomy. Histologic sections demonstrated a 3.4cm simple squamous, non-keratinizing cyst lining overlying a thickened fibrotic wall with mixed acute and chronic inflammation surrounded by benign thyroid tissue, consistent with an intrathyroidal thyroglossal duct cyst. Discussion: The thyroglossal duct derives from epithelial tissue during embryogenesis and atrophies during weeks 8-10 of gestation. A persistent duct may lead to cyst formation in the presence of remnant epithelial tissue secretions and local neck inflammation. A thyroglossal duct cyst is usually located midline in the anterior neck. This stands in comparison to a branchial cleft cyst, which arises due to failure of atrophy of the second branchial groove during embryogenesis and forms a cyst that is usually located in the upper lateral neck compartment. Other common neck masses include lipomas, dermoid cysts, or ectopic thyroid tissue. This case highlights the rarity of intrathyroidal thyroglossal duct cyst in an adult patient and the importance of definitive diagnosis and appropriate management. Presentation: 6/2/2024

Surgical removal of a giant branchial cleft cyst: A case report

Surgical removal of a giant branchial cleft cyst: A case report

Minimal Invasive Approach to The Branchial Neck Cyst.

Branchial cleft cysts are congenital epithelial cysts, which arise on the lateral part of the neck. They may not present clinically until later in life. Surgical excision is a definitive treatment for branchial cleft cysts. This article presents the clinical report where the big inflamed cysts were excised under local anesthesia. It also presents guidelines for minimally invasive surgery under local anesthesia, which can be used in adequately selected cases.

Comparative Analysis of Metastatic Thyroid Carcinoma versus Ectopic Thyroid Carcinoma in Lateral Neck Masses without Identifiable Primary Thyroid Carcinoma

Background/Objectives: Thyroid carcinoma, presenting as a lateral neck mass without an identifiable primary tumor within the thyroid, poses a diagnostic challenge. This comparative analysis aimed to explore the differences between metastatic thyroid carcinoma and ectopic thyroid carcinoma, as both present with a lateral neck mass without evidence of primary thyroid carcinoma. Methods: Searches were conducted for studies on thyroid carcinoma in the lateral neck without evidence of primary thyroid carcinoma. A total of 39 patients were identified from 32 reported studies. Results: Metastatic and ectopic thyroid carcinomas were found in 11 and 28 patients, respectively. Metastatic thyroid carcinoma is characterized by evidence of spontaneous primary tumor regression within the thyroid and commonly associated with multiple lymph node metastases in central and lateral neck compartments. Ectopic thyroid carcinoma is more commonly diagnosed in younger patients and is frequently identified in branchial cleft cysts. The coexistence of normal thyroid tissue adjacent to the ectopic thyroid carcinoma was confirmed, and patients with ectopic thyroid carcinoma exhibited significantly higher rates of second-stage thyroidectomy or neck dissection. When complete surgical excision was considered adequate, excision alone was chosen for patients with ectopic thyroid carcinoma. Conclusions: Identifying these differences is valuable for the differential diagnosis and development of treatment strategies for metastatic and ectopic thyroid carcinomas in lateral neck masses without evidence of primary thyroid tumor.

Complications after fine-needle aspiration cytology and core-needle biopsy in benign head & neck neoplasms

IntroductionBenign neck masses are one of the most common causes of clinical consultation in head & neck (H&N) clinics. Fine needle aspiration cytology (FNAC) and core needle biopsy (CNB) have become among the main strategies for the diagnostic work-up of palpable and non-palpable neck lumps. Moreover, numerous studies have established the safety, high diagnostic yield, and added value of image-guided H&N biopsies, which play an important role in diagnosis, staging, and treatment planning, and can obviate the need for surgery for many patients. Nonetheless, despite the success of both techniques, there is a lack of recent studies regarding their safety and associated complication rates. Material & methodA retrospective analysis was performed of prospective data on patients undergoing ultrasound-guided FNAC or CNB for benign H&N disease (e.g., salivary gland benign tumors, branchial cleft cyst, thyroglossal duct, cyst, lipoma, or neurinoma) between June 2016 and June 2021 in a tertiary university hospital. ResultsOverall, 192 patients were included (105 [54.7%] men and 87 [45.3%] women). The Kolmogorov-Smirnov test indicated that our data were normally distributed (p = 0.452). The mean age of enrolled patients was 54 ± 10 (range: 18–87). The anatomical site most commonly affected was a major salivary gland (74%). Regarding incidence and type of complications, nine (4.7%) patients experienced complications, infection being the most common problem. The risk of complications was highest in patients with branchial cleft cysts who had undergone FNAC (p = 0.028). Overall, the risk of complications was not associated with the type of technique (p = 0.603; OR: 0.942; 95% confidence interval = 0.245–3.624). ConclusionAccording to our results, FNAC and CNB are generally safe and reliable procedures in the diagnostic work-up of H&N lumps. Nevertheless, physicians should be aware of certain risks associated with these procedures.

Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.

The objective of this study was to investigate and assess the clinical data of 123 patients diagnosed with congenital branchial cleft anomalies (CBCAs), to summarize pivotal aspects concerning their clinical diagnosis and treatment process. The authors conducted a retrospective analysis of 123 patients who underwent surgical intervention for CBCAs at our institution between August 2005 and September 2021. The clinical demographic characteristics of the patients, primary symptoms, treatment chronology, preoperative diagnostic assessments, surgical strategies, occurrences of postoperative complications, and rates of recurrence were subjected to statistical analysis. Among the enrolled patients, there were 43 cases (34.9%) of congenital first branchial cleft anomalies (CFBCA), 76 cases (61.8%) of congenital second branchial cleft anomalies (CSBCA), and 4 cases (3.3%) of congenital third branchial cleft anomalies (CTBCA), with no cases of congenital fourth branchial anomalies (CFBA). Notably, among all cases, 43 anomalies were situated in the upper one-third of the sternocleidomastoid muscle, while 80 anomalies were located in the lower one-third. Different surgical approaches were selected for patients based on the specific type of anomaly presented. Following surgery, there was recurrence in 14 cases, with factors such as patient age, clinical categorization, lesion type, and history of preoperative infection and surgical intervention identified as primary risk factors for it. CBCAs represent comparatively uncommon disorders affecting the head and cervical regions in clinical practice. Diagnostic modes such as ultrasonography and lipiodol contrast radiography can be used for accurate diagnosis, with surgical intervention serving as the primary therapeutic method.

Characterisation of Kürsteiner canals of parathyroid: imparting relevance to a one-and-a-quarter-century-old concept.

Kürsteiner canals (KC) were described at least 125 years ago as pharyngeal pouch embryological remnants of parathyroid and thymic development. While considered precursors for a subset of parathyroid cysts and salivary heterotopias (SH), they remain enigmatic. We now define a comprehensive phenotype of KC remnants and investigate their role in a spectrum of parathyroid lesions. `Sixty-two cystic and 22 non-cystic parathyroid lesions (73 patients) were retrieved from our institutional archive (2011-23) and evaluated for the presence of KC and prevalence of KC phenotype in parathyroid hormone (PTH)-positive and PTH-negative cysts. KC phenotype was defined as: cysts and tubules with surrounding sclerosis; bland, unilayered lining with frequent nuclear indentation of lumina; vesicular chromatin relative to chief cells; attenuated eosinophilic to 'hyper-cleared' cytoplasm; and staining pattern PTH-negative, SOX-10-positive, CK7-positive, GATA-3-positive and PAX-9 dim, a subset with oestrogen/progesterone receptor (ER/PR) positivity. Thirty PTH-negative cysts were identified in the neck/mediastinum; 14 of this group also showed SH. Thirty-two PTH-positive cysts included: 11 cystic parathyroid adenomas, 17 hyperplastic parathyroids, and four carcinomas. KC showed two distinct subtypes and were often found near PTH-negative cysts. PTH-negative cysts were associated with inferior parathyroids, SOX-10 positivity, fibrosclerosis, vesicular nuclei indenting cyst lumina and hyper-cleared or attenuated eosinophilic cytoplasm. KC are common in parathyroids and show a distinct histological and immunohistochemical profile, with an inferior predilection favouring branchial cleft III distribution. Diagnostically, the high prevalence of this phenotype in PTH-negative cysts and salivary heterotopia supports derivation of non-functioning cysts from KC. Conversely, PTH-positive cysts are more compatible with cystic change within hyperfunctioning glands.

Management of a Piriform Sinus Fistula With Chronic Neck Infection in an Adult.

A pyriform sinus fistula (PSF) is a rare congenital anomaly due to failed obliteration of the third or fourth pharyngeal pouch. Diagnosis and management of PSF remains controversial. We present a case of PSF and discuss its diagnosis and management. Case report and literature review. A 26-year-old female with a chronic left lateral neck abscess was diagnosed with a left PSF. She underwent surgery through a combined approach to close the openings of the PSF, internally and externally. We first placed a blunted ET tube into the internal opening of the PSF. We then performed an external transcervical approach to close the PSF at the cricothyroid membrane. Briefly, after a neck debridement and washout of the chronic neck infection, we identified the recurrent laryngeal nerve (RLN) in Lore's triangle. We performed left hemithyroidectomy to facilitate the dissection and protection of the RLN to its entrance into the larynx. A flexible laryngoscope was then inserted into the left piriform sinus through the ET tube to guide external dissection by transillumination. The scar tissue attached to the superior pole of the left thyroid lobe was then ligated and divided along the cricothyroid membrane. Lastly, we cauterized the internal opening of the PSF. The patient has remained recurrence-free for 1.5 years with normal vocal cord mobility. Histopathology revealed presence of a squamous-lined tract adjacent to the thyroid tissue. Surgical treatment for patients with PSF should be aimed at closing the internal and external openings of the PSF, debriding chronic neck infection, and protecting the laryngeal nerves, instead of removing the entire tract. A concurrent hemithyroidectomy facilitates the identification and protection of the RLN, as well as excision of the tract. Differentiation between third and fourth branchial cleft fistulae may not be clinically necessary, as it is unlikely to alter the therapeutic plan.

Papillary Thyroid Carcinoma within a Second Branchial Cleft Cyst. A Diagnostic and Treatment Challenge

Papillary Thyroid Carcinoma within a Second Branchial Cleft Cyst. A Diagnostic and Treatment Challenge

A Pain in the Neck Sixty Years On.

This report describes the recurrence of an infected first branchial cleft cyst in an adult and highlights the importance of considering branchial cleft cysts in the differential diagnosis of cervical lymphadenitis or abscess in early childhood to enable definitive surgery.

Imaging Features of Ectopic Nasopharyngeal Branchial Cleft Cyst With Temporal Bone Involvement.

Imaging Features of Ectopic Nasopharyngeal Branchial Cleft Cyst With Temporal Bone Involvement.

Endoscopic diagnostic and therapeutic management of branchial cleft fistula type III & IV: a single tertiary centre experience.

To date, recurrent neck abscesses associated with branchial anomalies are treated using a variety of techniques. Management strategies may include various imaging modalities and surgical methods. Endoscopic assessment and electrocauterization are the preferred diagnostic modalities and treatment strategies that have recently gained widespread acceptance and popularity. This was a retrospective review on patients' medical record from 2016 to 2023. Seven patients underwent endoscopic cauterization at our centre, a tertiary academic institution. Five of the patients (71.5%) achieved complete remission. Two patients experienced recurrence within 6 months that necessitated re-cauterization once but subsequently recovered completely. Currently, endoscopic management is the preferred approach compared to the typical open neck excision surgery as it is significantly less invasive, resulting in lesser morbidity and similar success rates. At presentation, all of them had ultrasound neck that suggestive of neck abscess. Computed tomography or magnetic resonance imaging unable to provide adequate information about the side of internal opening of fistula where only 3 out of 7 patients demonstrated tract up to the ipsilateral region of pyriform fossa. Management outcomes of this limited case series showed the potential benefits of endoscopic cauterization as the minimally invasive therapeutic method for recurrent neck abscesses caused by third and fourth branchial cleft fistulas but also to suggest the possibility as the first diagnostic tool prior to imaging studies.

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.

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.