[Analysis of cases of cervical cystic lymph node metastasis with an unknown primary misdiagnosed as branchial cleft carcinoma].

Objectives: To analyze the location, discovery time and possible causes of cases of cervical cystic lymph node metastasis with an unknown primary misdiagnosed as branchial cleft carcinoma. Methods: A retrospective analysis was performed on clinical and pathological data of 15 patients misdiagnosed as branchiogenic carcinoma at Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College between January 2000 and December 2020. Results: Among the 15 patients, 6 were nasopharyngeal squamous cell carcinoma, 4 tonsil squamous cell carcinoma, 2 tongue root squamous cell carcinoma, 2 hypopharyngeal squamous cell carcinoma and 1 thyroid papillary carcinoma. The median time from the diagnosis of branchial cleft carcinoma to the discovery of primary lesions was 3.58 months (0-76 months). The causes of misdiagnosis might be the lack of experience in the diagnosis and treatment of branchial cleft carcinoma, and not enough attention to comprehensive examination and close follow-up. Conclusions: Different from oropharyngeal cancer reported internationally, the proportion of misdiagnosed cases with nasopharyngeal carcinoma as the primary site in the current article is higher. As a country with a high incidence of nasopharyngeal carcinoma, the examination of nasopharynx should not be taken lightly. Most hidden cases can be found in the comprehensive examination in a short time, while a few cases need long-term follow-up. Finding the primary sites should not rely too much on imaging examination, and we cannot ignore the importance of clinical physical examination.

The utility of ultrasonographic surveillance in management of a presumed branchial cleft cyst later confirmed HPV-associated oropharyngeal cancer.

While branchial cleft cysts are often considered benign pathologies, the literature discusses cases of squamous cell carcinoma (SCC) arising from these cystic lesions as either a primary or metastatic tumor. We illustrate our institutional experience and review the current literature to identify recommendations for best diagnostic, surveillance, and treatment guidelines for SCC identified in a branchial cleft cyst. A 61-year-old male presented with a right sided neck mass, with suspicion of a branchial cleft cyst due to benign findings on fine needle aspiration. Following surgical excision, a focus of SCC was found on surgical pathology. Despite PET/CT and flexible laryngoscopy, no primary tumor was identified prompting routine surveillance every 3 months with cervical ultrasonography and flexible nasolaryngoscopy. Two and a half years following his initial presentation, pathologic right level II lymphadenopathy was detected on ultrasound without evidence of primary tumor. Subsequent transoral robotic surgery with right tonsillectomy and partial pharyngectomy, with right lateral neck dissection revealed a diagnosis of pT1N1 HPV-HNSCC and he was referred for adjuvant chemotherapy and radiation. To our knowledge there are less than 10 cases of confirmed HPV-associated oropharyngeal SCC arising from a branchial cleft cyst. Here we demonstrate the utility of ultrasound as a surveillance tool and emphasize a higher index of suspicion for carcinoma in adult patients with cystic neck masses.

Cervical bronchogenic cyst in a toddler.

Bronchogenic cyst is a congenital abnormality arising from the tracheobronchial system. Localisation of such cysts in the head and neck region is rare. We report a girl in her early childhood with a painless enlarging right lateral neck mass diagnosed with a branchial cleft cyst based on clinical and radiological MRI findings. An incidental finding of a cervical bronchogenic cyst was made on the final histopathological specimen. Although rare, bronchogenic cysts should be considered as differential diagnoses for paediatric patients' lateral and midline cervical masses.

Percutaneous injection of sclerosant agents as an effective treatment for cystic malformations of the head and neck.

PURPOSE: To evaluate the clinical and aesthetic outcome of percutaneous injection of sclerosant agents to treat head and neck cystic malformations (HNCM) and to assess their recurrence rate based on histology and site. METHODS: Fifty-four subjects (mean age 46 years) with HNCM treated by percutaneous injection of sclerosant agents between January and December 2017 were included. Imaging and clinical data before and after the procedure were collected. Quality of Life Index, Pain Visual Analogue Scale, and Aesthetic Scale scores were measured to assess clinical and aesthetic outcomes. A size reduction of ≥ 70% assessed through the visual scale was considered significant. RESULTS: Of the 54 HNCM, there were 26 (48%) lymphatic malformations (LM), 13 (24%) salivary epithelial duct cysts of the parotid gland, 12 (22%) salivary mucoceles, and 3 (5%) branchial cysts. A significant size reduction and a satisfactory clinical-aesthetic outcome were observed in all types of LM. The number of reinterventions was significantly associated with the number of lesions (p < 0.001). The lowest number of interventions was observed in macrocystic lymphatic malformations (average of 1.2 interventions). All salivary epithelial duct cysts showed a significant reduction in size, a satisfactory clinical-aesthetic outcome, and an average of 1.16 interventions per patient. Mucoceles had a worse response, with only 3/14 patients showing a satisfactory and long-lasting clinical outcome (average of 1.16 interventions). Treatment of branchial cysts showed the worst outcome with a limited clinical response (3/3). CONCLUSION: Percutaneous injection of sclerosant agents may be considered as a first-line treatment for LM and salivary epithelial duct cysts.

Ultrasound diagnosis and treatment of branchial cleft cyst and preoperative management.

OBJECTIVE: The ultrasonic diagnosis of cervical and facial cystic masses, as well as cases of missed diagnosis and misdiagnosis, was examined, to improve the diagnosis of branchial cleft anomalies. METHODS: A retrospective analysis was conducted on 17 patients with branchial cleft cyst anomalies, including 11 males and 6 females, aged 12-53 years, with an average age of 33 ± 2 years, were unilateral single. All patients who underwent an ultrasound examination and image storage for retrospective analysis, and both longitudinal and transverse sections were scanned to observe the shape, size, boundary, peripheral relationship, and blood flow signal of the masses. All cases were examined with an enhanced CT scan, and pathological reports were generated. RESULTS: Among the 17 cases of branchial cleft anomalies, 15 cases were branchial cleft cysts, while one case involved fistula formation and one case involved sinus tract formation. Based on the type of branchial cleft, the first, second, and third cysts were classified in 4, 12, and 1 case, respectively. The sensitivity rate and specificity of ultrasonic diagnosis were 14/17 (82.4%) and 4/6 (66.7%), respectively. Ultrasonic characteristic analysis for the masses can be found in simple cystic masses or hypoechoic masses, most of them are of a regular shape and have a distinct boundary, and almost no blood flow signal. All patients who were misdiagnosed exhibited blood flow signals, including 1 patient with an abundant blood flow signal, 1 patient suspected of having ectopic thyroid with an abnormal function due to the rat-tail sign, 2 patients misdiagnosed as local inflammatory focus, and 1 patient misdiagnosed with tuberculous lymphadenitis. CONCLUSION: Ultrasound has a detection rate of up to 100% for cervical and facial masses, providing a fundamental determination of lesion characteristics and specific guidance for preoperative diagnosis. If the blood flow signals can be identified and carefully considered their peripheral relationship, the diagnostic rate can be improved.

Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression.

Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40-100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10-20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.

Age-related outcomes after pediatric branchial cleft cyst excision via NSQIP-P.

OBJECTIVE: Branchial cleft cysts present at varying ages; sometimes excision is delayed because of concern about operating in small children. Our goal was to determine if outcomes and complications differed among pediatric age groups. STUDY DESIGN: Retrospective, cross-sectional. SETTING: American College of Surgeons' National Surgical Quality Improvement Pediatric database. METHODS: Patients who underwent a branchial cleft cyst excision between 2016 and 2020 were identified in the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) Pediatric database. Patients with CPT code 42,815: 'excision branchial cleft cyst, vestige, or fistula, extending beneath subcutaneous tissues and/or into the pharynx' as their primary procedure were included. Variables of interest included patient demographics, comorbidities, pre-operative risk factors and complications. RESULTS: 2267 patients with median age of 3.9 (IQR: 7.4, range: 0.04-17.9) years were included. The most common pre-operative risk factors were 149 (7 %) patients with prematurity, 136 (6 %) with developmental delay, 135 (6 %) with congenital malformation, and 128 (6 %) with open wound or wound infection. 68 (3 %) patients experienced at least one post-operative complication, with 73 post-operative complications documented in total. Surgical site infections were the most common complications with 49 (67.1 %) superficial infections, 11 (15.1 %) deep infections, and 4 (5.5 %) organ/space infections. Surgical site infections were the most common reason for related readmission. Duration of anesthesia and operative time increased significantly as patient age increased (p < .001 for both). There was no significant correlation between age and complication incidence. CONCLUSION: Branchial cleft cyst excision is a relatively safe operation with a low complication rate, even in young pediatric populations.

Scarless Excision of Second Branchial Cleft Cyst via Retroauricular Hairline Incision.

BACKGROUND: Second branchial cleft cyst (2nd BCC) is treated by complete excision. Conventional transcervical skin incision on the lesion may leave a prominent scar in the cosmetically sensitive area. The retroauricular hairline incision (RAHI) approach may maintain neurological, mobility, and cosmetic functions of the neck and face after excision. This study evaluated the clinical outcomes and disease control of scarless surgery via RAHI in 57 consecutive patients with 2nd BCC. METHODS: The patients received the prospective evaluation of postoperative neurological, subjective pain, swallowing, neck motion, and cosmetic functions. Postoperative complications, subjective satisfaction, and recurrence were also assessed in each patient. RESULTS: Excision was performed in all cases without injury to the facial nerve or other neurological complications and conversion to other incisions or approaches with a median operation time of 44 min. Complications were minimal, without dysphagia, neurological deficits, or limited neck motion. Postoperative incision scars in the postauricular and hairline region were commonly invisible. Subjective satisfaction with the scar and facial deformity was high after surgery. No patients had a recurrence for a median follow-up of 66 months. CONCLUSION: The RAHI approach for 2nd BCC has excellent cosmetic, functional, and disease control outcomes. This can be safely applied to the treatment of 2nd BCC. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Nasopharyngeal cyst in an adolescent boy: differential diagnosis - embryological and anatomical considerations.

In the current article, we present a case of an adolescent boy with a nasopharyngeal cyst that induced nasal and Eustachian tube obstruction. Nasopharyngeal cysts can be found incidentally during imaging examinations such as MRI; however, a symptomatic nasopharyngeal cyst is a rare finding in the paediatric population. The cyst was treated successfully by marsupialisation, and the histological diagnosis revealed an adenoidal retention cyst. The differential diagnosis of a nasopharyngeal cyst is always challenging since developmental cysts such as Rathke's pouch cysts, Torwaldt's and branchial cleft cysts may be encountered at the nasopharynx. The current article also intends to present the diagnostic and therapeutic approach to a nasopharyngeal cyst, emphasising anatomical and embryological considerations that address its differential diagnosis.

Branchiogenic cyst ‒ a rare finding in vascular surgery.

Branchiogenic cysts are benign lesions caused by anomalous development of the branchial cleft. They are typically detected in individuals aged between their twenties and forties. Ultrasonography is the first-line imaging method of choice. Surgical excision is the sole treatment modality (Tab. 1, Fig. 6, Ref. 25). Keywords: branchiogenic cyst, extirpation, ultrasonography, computed tomography.

Anatomopathological characterization of branchial cysts in slaughtered pigs.

Branchial cysts are a congenital anomaly in humans and other animal species. In this study, twenty commercially bred slaughtered pigs ranging from 120 to 150 days of age, sourced from different farms and lots, were found to have cysts in the oropharyngeal region at meat inspection despite the absence of clinical signs. Two cysts were selected for histopathological examination. The first cyst was surrounded by fibrous connective tissue and lined by a simple single cell layer of epithelium. The second cyst comprised a squamous pseudostratified to simple stratified epithelium, accompanied by a mild inflammatory infiltrate. This cyst was also surrounded by fibrous connective tissue and glands. The pathological diagnosis of branchial cysts in slaughtered pigs was established on the basis of their anatomical location and gross and microscopic findings.

Branchioma with a nested/organoid morphology: molecular profiling of a distinctive potentially misleading variant and reappraisal of potential relationship to CD34-positive/Rb1-deficient tumors of the neck.

Branchioma (previously called ectopic hamartomatous thymoma, branchial anlage mixed tumor, or thymic anlage tumor) is a rare lower neck lesion with an adult male predominance and an uncertain histogenesis. Except for 4 cases, all branchiomas described in the literature were benign. Recently, HRAS mutation was detected in one case, but still little is known about the molecular genetic background of this rare entity. We herein report the histological, immunohistochemical, and molecular genetic analysis of a branchioma with a nested/organoid (neuroendocrine-like) morphology in a 78-year-old man. Histology revealed classical branchioma areas merging with nested/organoid cellular component lacking conventional features of malignancy. Immunohistochemistry was positive for high-molecular-weight cytokeratins. CD34 was expressed in the spindle cell component. Moreover, the tumor cells showed near-complete loss of retinoblastoma (RB1) expression (<1% of cells positive). All neuroendocrine markers (synaptophysin, chromogranin, and INSM1) were negative. Next-generation sequencing (TSO500 Panel) revealed 5 pathogenic/likely pathogenic mutations including 1 mutation in KRAS and 2 different mutations in each of MSH6 and PTEN. FISH and DNA sequencing were negative for RB1 gene alterations. To our knowledge, this is the first report of a branchioma showing misleading nested/organoid morphology and the first report on Rb1 immunodeficiency in this entity, in addition to multiple gene mutations revealed by NGS.

Adenocarcinoma arising in branchioma with a KRAS and TP53 mutation.

Branchioma is a rare benign neoplasm occurring in the lower neck. Occurrence of malignant neoplasms arising in branchioma is extremely rare. Here, we report a case of adenocarcinoma arising in branchioma. A 62-year-old man had a right supraclavicular mass measuring 7.5 cm in diameter. The tumor contained an adenocarcinoma component encapsulated in a benign branchioma component. The adenocarcinoma component consisted of high- and low-grade components, with the former accounting for 80% of the adenocarcinoma. The high-grade component was immunohistochemically characterized by diffuse strong p53 expression, while the low-grade component and branchioma component were negative for p53. Targeted sequencing analysis for the branchioma and adenocarcinoma components revealed that the adenocarcinoma component harbored pathogenic mutations in KRAS and TP53. No definitive oncogenic drivers were detected in the branchioma component. Based on these immunohistochemical and molecular findings, we suggest that the KRAS mutation contributed to the pathogenesis of the adenocarcinoma, and the TP53 mutation played a key role in the transition from low-grade to high-grade adenocarcinoma.

[Malignant transformation of a branchial cleft cyst]. / Rosszindulatúan elfajult nyaki branchiogen cysta.

Branchial cleft cyst is the most common birth defect involving the neck. Malignant transformation is known, however, differentiating from a neck metastasis of a squamous cell carcinoma of unknown primary is challenging. Even though there are strict criterias, the diagnosis of this entity remains controversial. We present the case of a 69-year-old woman, who presented with a swelling under the left side of the mandible. After diagnostic workup, fine-needle aspiration biopsy raised the suspicion of a cystic squamous cell carcinoma metastasis, therefore we performed panendoscopy and modified radical neck dissection. The pathological examination confirmed branchial cleft cyst carcinoma. After surgery, the patient received adjuvant radiation and chemotherapy. During the case workup, we present the difficulties of the diagnostic process, differential diagnostic problems, and the review of the international literature. In the case of a solitary, cystic mass on the neck without a primary tumor, we should consider the possibility of a branchiogenic carcinoma. Orv Hetil. 2023; 164(10): 388-392.

Ectopic Salivary Gland - A Possible Differential Diagnosis of a Branchial Cleft Cyst.

Background: Branchial cleft cysts or fistulae are common in pediatric surgical pathology and are cured by surgery. Lesions in this area may not show the classical features of a cyst or duct lined by squamous or respiratory epithelium and other differential diagnoses should be considered. Case report: A seven-year-old otherwise healthy boy presented with bilateral swelling of the lower neck and reported intermittent secretion of clear fluid on the right side. Excision of the right sided lesion revealed an ectopic salivary gland, the excision of the left showed only subtle fibrosis. Conclusion: Ectopic salivary glands may occur in the distribution of branchial cleft remnants. Clear fluid drainage (saliva) may be a clinical clue that these are not branchial cleft cremnants.

First Branchial Cleft Anomalies: Rare Work Type I and Type II Entities.

First branchial cleft anomalies (FBCAs) are the most infrequent malformations that occur during the development of the branchial apparatus, appearing in less than 8% of all branchial anomalies. Traditionally, they are classified into Work type I and II, depending on their origin. We present a pair of rare FBCAs: a case of a preauricular Work type I cyst with twin fistulae coursing toward the parotid gland and a Work type II cyst of significant dimensions.

Lateral cystic neck masses in adults: a ten-year series and comparative analysis of diagnostic modalities.

BACKGROUND: In adults, the solitary lateral cystic neck mass remains a diagnostic challenge with little solid material to target for cytology and few clues on imaging modalities to suggest underlying malignancy. METHOD: This study was a retrospective review of patients presenting with a lateral cystic neck mass to a tertiary academic head and neck centre over a 10-year period. RESULTS: A total of 25 of 157 cystic lesions were subsequently malignant on paraffin section histopathology, with the youngest patient being 42 years. In the age cohort over 40 years, 30 per cent of males and 10 per cent of females were diagnosed with malignancy. The ipsilateral palatine tonsil was the most common primary site (50 per cent). A total of 85 per cent of cases demonstrated integrated human papillomavirus infection. Age, male sex and alcohol were significant risk factors on univariate analysis. Ultrasound-guided fine needle aspiration cytology and magnetic resonance imaging represented the most accurate pre-open biopsy tests. CONCLUSION: The authors of this study advocate for a risk-stratified, evidence-based workup in patients with solitary lateral cystic neck mass in order to optimise timely diagnosis.