Cystic metastasis versus branchial cleft carcinoma: a diagnostic challenge

OBJECTIVES: There is controversy regarding the existence of branchial cleft carcinomas. The objectives are to familiarize the clinician with the presentation and treatment of cystic metastases from head and neck primary sites and differentiate these from primary branchial cleft cyst carcinomas. STUDY DESIGN: Retrospective case study and literature review. METHODS: Published reports of branchial cleft carcinomas were reviewed in conjunction with a unique case presenting at the University of Texas Medical Branch (Galveston, TX). RESULTS: Most cases of branchial cleft carcinomas are probably cystic metastases from head and neck primary sites. Cutaneous involvement with primary branchial cleft carcinomas is rare but may occur in recurrent lesions. CONCLUSIONS: The diagnosis of a primary branchial cleft cyst carcinoma requires the fulfillment of strict criteria. Cystic metastases from head and neck primaries can mimic branchial cleft carcinomas histologically. Correct diagnosis is important so that appropriate surgical and radiotherapeutic treatment can be delivered.     

复发性先天性颈侧瘘管及囊肿治疗方式的回顾性分析

目的:总结39例复发性先天性颈侧瘘管及囊肿患者的治疗经验,以期提高颈侧瘘管及囊肿的治愈率。方法:回顾性分析39例手术切除后复发的颈侧瘘管及囊肿患者的诊治过程。其中第一鳃裂来源12例,第二鳃裂来源6例,第三鳃裂来源21例。结果:所有患者经历瘘管或囊肿切除手术2～5次。最后1次术后随访9个月～17年,6例失访;6例复发(第一鳃裂瘘管1例,第二鳃裂瘘管3例,第三鳃裂瘘管1例、囊肿1例);1例第一鳃裂瘘管患者第3次术后发生癌变,第4次术后1年死亡。2例第三鳃裂瘘管穿过甲状腺,术中切除瘘管穿行的甲状腺组织。所有术中找到明确内口并进行有效结扎的颈侧瘘管患者术后在随访期间均未见复发。结论:提高对颈侧鳃裂畸形的认识,合理选择手术时机,制定有效的手术方案是复发性颈侧瘘管治愈的关键。     

鳃裂畸形40例

目的：分析鳃裂囊肿及瘘管的临床特点,探讨其诊断和治疗方法。方法：对40例鳃裂囊肿及瘘管患者的临床资料进行回顾性分析,并结合文献对诊断、鉴别诊断、治疗经验及教训进行探讨;全部患者均经手术切除囊肿及瘘管。结果：随诊1～5年,2例失访,36例无复发;2例复发,再次手术,分别随访42和14个月,未复发。结论：颈侧部沿胸锁乳突肌前缘自耳周腮腺区至锁骨上孤立的、无痛囊性包块,或有反复感染成颈部脓肿、破溃、多次切开引流者均应考虑鳃裂囊肿及瘘管。颈部B超、增强CT、MRI、碘油造影、钡餐检查、直接喉镜检查均可辅助诊断,病理检查可确诊。手术切除仍为治疗鳃裂畸形的主要方法。     

Third branchial cleft anomaly presenting as a retropharyngeal abscess

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.     

Second branchial cleft cyst causing internal jugular vein thrombosis — A case report

The branchial cleft cyst also known as lateral cervical cyst is usually present in the lateral part of neck deep to sternocleidomastoid muscle at the junction of its upper third and lower two thirds. Branchial cysts are known for repeated infection with sudden increase in size and pain and for its recurrence. Thrombosis of major vessels of neck secondary to recurrent infection and inflammation of branchial cyst is extremely rare. Here we present the first case of internal jugular vein thrombosis; a rare complication seen with branchial cyst in a 54-year-old male. The patient was treated initially with antibiotics followed by excision of cyst and ligation of internal jugular vein without any complication. Key Message Thrombosis of internal jugular vein secondary to recurrent infection and inflammation of branchial cyst is extremely rare. Here we present the first case of internal jugular vein thrombosis in a 54-year-old male. The patient was treated initially with antibiotics followed by excision of cyst and ligation of internal jugular vein without any complication.     

先天性第四鳃裂畸形的诊断和治疗

目的 探讨先天性第四鳃裂畸形(congenital fourth branchial anomaly,CFBA)的解剖学特点、临床表现、诊断和外科处理原则.方法 回顾性分析8例CFBA患者的临床资料,年龄27～300个月(中位年龄114个月);男4例,女4例;初治3例,复发5例;病变均位于左颈,其中囊肿型1例,窦道型3例(均为内瘘口),瘘管型4例;3例表现为急性甲状腺炎,4例表现为颈深部脓肿,1例表现为颈部肿块.结果 术前检查包括食管吞钡8例次、直接喉镜4例次、CT 5例次、MRI 5例次.急性期患者采取充分引流、控制感染;静止期患者行病灶完整切除+喉返神经解剖+甲状腺腺叶部分切除,对复发病例采用择区性颈清扫术根除瘢痕、炎性肉芽和病变组织.术后1例患者切口局部感染,经换药后愈合;1例患者出现暂时性声带麻痹,1个月后完全恢复.患者随访13～42个月,中位随访时间21个月,未见复发.结论 CFBA走行与喉返神经和甲状腺关系密切.食管吞钡、直接喉镜检查最具诊断价值,CT和MRI有助于明确诊断.治疗原则为感染静止期行喉返神经解剖和甲状腺腺叶部分切除,必要时切除部分甲状软骨翼板以减少并发症和预防复发,复发病例可采用择区性颈清扫术治疗.     

功能性颈清扫术在复发性鳃裂畸形治疗中的应用

目的:探讨功能性颈清扫术在复发性鳃裂畸形治疗中的应用。方法:回顾性分析我科采用功能性颈清扫术治疗复发性鳃裂畸形(瘘管和囊肿)患者15例的资料。结果:13例切口一期愈合,2例二期愈合,1例术后饮水呛咳,1个月后自行恢复,1例术后遗留Horner综合征。随访2个月～6年,除2例失访外,无一例复发。结论:功能性颈清扫术对于多次复发的第二、第三鳃裂畸形(瘘管和囊肿)是一种安全有效的治疗手段。     

Thymopharyngeal duct cyst: a case presentation and literature review

The differential diagnosis of a lateral cystic neck mass includes branchial cleft cysts and lymphangiomas. Cervical thymic cysts are rare, and thymopharyngeal duct cysts, which maintain a connection to the pharynx, are rarer still. We present an interesting case of a 6 year-old male who developed acute onset of a left-sided neck mass. CT and MRI findings revealed a multiloculated cyst closely associated with the left lobe of the thyroid gland with a tract extending up along the carotid sheath to the pyriform sinus. Complete surgical excision was performed. The anatomic location and pathology were consistent with a thymopharyngeal duct cyst. The embryology, clinical presentation, radiologic and pathologic findings, and surgical management of thymopharyngeal duct cysts will be discussed.     

Image cytometry DNA-analysis of fine needle aspiration cytology to aid cytomorphology in the distinction of branchial cleft cyst from cystic metastasis of squamous cell carcinoma: a prospective study

OBJECTIVE: Frequently, the distinction between branchial cleft cyst and cystic metastases from squamous cell carcinoma is difficult by cytomorphology. In a prospective study, we investigated the need for, and the value of, image cytometry DNA-analysis as a complement to cytologic evaluation of cystic lesions in the neck. STUDY DESIGN: Image cytometry DNA-analysis was performed on the fine needle aspiration cytology smears from 50 patients, referred to our department, with a solitary cystic lesion in the lateral region of the neck. METHODS: Smears from aspirates were Giemsa stained and cytologically evaluated. Ahrens image analysis was used for DNA analysis on smears stained with Schiff reagent, and lymphocytes were used as control cells. Epithelial cells with DNA values exceeding 5c were regarded as aneuploid, indicating malignancy. RESULTS: Nine lesions were diagnosed as squamous cell cancer metastases cytologically. DNA analysis showed aneuploidy in all of them except one. Three of these lesions had earlier been diagnosed as branchial cleft cyst at the referring hospital. Eight lesions were cytologically inconclusive and four of them were revealed as cystic metastasis at histopathologic analysis, and DNA analysis showed aneuploidy in all but one, which could not be analyzed. Two of these lesions were also diagnosed as branchial cleft cysts at the referring hospital. All benign lesions were diploid. Nine lesions were thyroid and salivary gland lesions. CONCLUSION: Image cytometry DNA-analysis was shown to help in the distinction between benign and malignant cystic lesions. Thus, when conventional cytomorphology does not suffice, DNA-analysis is clearly a valuable supplement.     

Sonographic diagnosis and differential diagnosis of neck cysts

We report 101 patients with the clinical diagnosis of a branchial cyst investigated by ultrasonography. In 78 cases the diagnosis of a branchial cyst was confirmed by the ultrasound findings. The picture of a typical cyst was found in 26 cases, whereas a complex cyst filled with sludge or debris was found in 52 patients. Histology revealed a different diagnosis in 7 cases of ultrasonic complex cysts. Of 23 patients where a branchial cyst was excluded by ultrasound, histology showed a lesion other than a branchial cyst in 19 cases. In total, only 34.6% of the histologically confirmed branchial cysts displayed the typical signs of such a cyst on ultrasonography. However, in 91% of the patients with an actual branchial cyst we were able to confirm the diagnosis by ultrasound before operation. The differential diagnosis of other benign and malignant lesions of the neck resembling branchial cysts is discussed with examples.     

Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study

Branchial cleft anomalies result from abnormal persistence of branchial apparatus, which is located at the lateral part of the neck. These occur due to failure of obliteration of the branchial apparatus during embryonic development. Differential diagnoses of lateral neck mass are salivary gland or neurogenic neoplasms, paragangliomas, adenopathies, cystic hygroma or cystic metastasis from squamous cell carcinoma or thyroid papillary carcinoma. Clinically, a branchial cyst is smooth, round, fluctuant and non-tender, and usually occurs over the upper part of the neck, anterior to the sternocleidomastoid muscle. Sometimes, it may present as infected cyst (or abscess), a sinus or fistula. Surgical excision is the definitive treatment for branchial anomalies. The objective of the work was to study the demographic data, clinical presentation, definite diagnostic workup and treatment of patients diagnosed with branchial anomalies. This is a retrospective study of 26 patients who were diagnosed with branchial anomalies (branchial cyst and fistula), of which only 12 patients had data available between July 1999 and June 2009 at the Otorhinolaryngology, Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre. Twelve cases of branchial anomalies were seen, in which 10 patients had second branchial cyst anomalies, 1 had third branchial fistula and 1 had bilateral branchial lesion. There were seven females and five males. The age of the patients varied over a wide range (4–44 years), but the majority of the patients were in their second and third decade of life. All branchial anomalies occurred at the classical site; eight patients had left-sided neck lesion. Correct clinical diagnosis was made only in five patients (41.6 %). All patients underwent surgical excision with no reported recurrence. Branchial anomalies are frequently forgotten in the differential diagnosis of lateral neck swelling. Diagnosis is usually delayed, leading to improper treatment. The diagnosis of patients who present with lateral neck cystic swelling with or without episodes of recurrent neck abscess should be considered with a high suspicion for branchial anomalies. FNA cytology is a good investigative tool in reaching toward a diagnosis of branchial lesion, with the concurrent assistance of radiological modalities. Surgical excision is the gold standard treatment of lesions of branchial anomalies.     

Cysts and fistulas of the lateral neck. Apropos of 18 cases with a review of the literature

Lateral cysts and fistulas of the neck are branchial cleft malformations. Lateral fistulas occurring at the basis of the neck account for about 5% of all congenital neck fistulas. Concerning 18 personal case observations of 2nd and 3rd branchial arch cysts, the authors report the chief clinical findings in this type of malformation, as well as discussing fistulography as a valuable investigational technique. They present the characteristics of surgical therapy as the sole possible solution.     

Duplication of the external auditory canal: a report of three cases

OBJECTIVE: Malformations of the first branchial cleft are uncommon and only sporadically reported in the literature. They may present as inflammatory openings on the neck, bland cysts or fistula associated with the external auditory canal. In this retrospective study, clinical features and anatomical relationships are described in three pediatric cases. Therapeutical guidelines for surgical management of first branchial cleft anomalies are discussed. PATIENTS: Between 1997 and 1999 three patients aged 9 months, 2 and 7 years with first branchial cleft anomalies were included in this study. All patients were treated surgically, wide exposure and superficial parotidectomy was necessary for complete removal in two of three cases. RESULTS: Exploring patients histories revealed previous infections with repeated incision and drainage procedures as well as inadequate operative resections. Clinically, purulent drainage from the ear, swelling in the parotid area and abscess formation with persistent drainage after incision in the neck or parotid area were noted. CONCLUSIONS: From our case series two of three patients underwent inadequate incision and drainage procedures to combat infection followed by scar tissue formation. Because of the variable relation to the facial nerve this led to difficulties in identifying and protecting the nerve during definite surgery. Management of first branchial cleft anomalies must include the facilities to achieve ear surgery and superficial parotidectomy including facial nerve exposure.     

31例鳃裂发育畸形临床诊治分析

目的探讨鳃裂发育畸形的临床诊治。方法回顾性分析31例鳃裂瘘管、窦道及囊肿诊治情况,其中第一鳃裂瘘管7例,第二鳃裂瘘管6例、鳃裂窦道及囊肿12例,第三鳃裂瘘管6例。初次手术者16例,复发再次手术者15例。结果经合理用药,术中熟悉瘘管行走途径,精细解剖,彻底切除瘘管、窦道及囊肿,1例出现面神经下颌缘支不全麻痹;1例出现咽瘘,经换药后痊愈。其中27例随访1年以上,截止目前无1例再次复发。结论熟悉各型鳃裂畸形的发病机制及颈部解剖,合理选择手术时机是治愈该种疾病的关键。     

Oropharyngeal trauma mimicking a first branchial cleft anomaly

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224–E226, 2016     

Fourth branchial cleft cyst.

Remnants of the fourth branchial arch are uncommon clinical entities. They may present in either the neck or chest in association with aortic arch development. They are encountered more frequently in younger individuals as an asymptomatic left-sided neck mass, recurrent neck abscess or suppurative thyroiditis. In view of the rarity of this lesion, we thought it worthwhile to present the case of a 25-year-old female with a diagnosed fourth branchial cleft cyst in her left lower neck. The embryology and management of these cases is discussed.     

Bilateral first and second branchial cleft fistulas: a case report

Branchial cleft anomalies--which include branchial cysts, sinuses, and fistulas--are uncommon developmental defects of the neck. Approximately 2 to 3% of cases are bilateral; bilateral presentations appear to have a familial component. Only 5 cases of bilateral branchial cleft fistulas have been reported in the English-language literature, and only 1 case of simultaneous first and second branchial cleft fistulas has been previously reported. We report what to the best of our knowledge is the second case of bilateral first and second branchial cleft fistulas.     

Intra-thyroid thyroglossal duct cyst as a differential diagnosis of thyroid nodule

An intra-thyroid thyroglossal duct cyst (ITTDC) presented as a congenital anterior neck mass in a 10-year-old male. Diagnosis, work-up, management approach, and differential diagnosis of thyroid nodules are discussed, as well as distinguishing features between thyroglossal duct cyst (TDC) and branchial cleft cyst (BCC). This is the fourth case of ITTDC reported in the pediatric population, and ITTDC should remain in the differential diagnosis of pediatric neck mass.     

The clinical value of image cytometry DNA analysis in distinguishing branchial cleft cysts from cystic metastases of head and neck cancer

OBJECTIVES/HYPOTHESIS: A branchial cleft cyst presents as a lump in the neck that, generally, is easily cured by surgical excision. The preoperative diagnosis is based on clinical examination and, especially in the Scandinavian countries, fine-needle aspiration cytology. However, at times, the histopathological analysis of the excised cyst reveals a cystic metastasis of squamous cell carcinoma of the head and neck. If adequate diagnosis could be obtained preoperatively, patients would most likely fare better. The study was performed to investigate whether the diagnostic accuracy for these lesions could be improved preoperatively by image cytometry DNA analysis of the fine-needle aspiration cytology specimen. STUDY DESIGN: Image cytometry DNA analysis was performed on the preoperative fine-needle aspiration cytology specimen and the surgical specimens from 51 patients with solitary cysts in the lateral region of the neck. Thirty-six patients were selected because there was a discrepancy between findings on fine-needle aspiration cytology and the final histopathological diagnosis or an uncertain cytological diagnosis. There were 25 metastatic squamous cell carcinomas and 3 thyroid cancers, there was 1 lymphoma and 1 sialoadenitis, and there were 21 branchial cleft cysts. METHODS: The cytodiagnostic Giemsa-stained slides were destained in Methanol and then stained with Schiff's reagent. The paraffin-embedded material from excised cysts were cut and deparaffinized and then stained with Schiff's reagent. Ahrens image analysis was used for DNA analysis and lymphocytes were used as control cells. DNA valves exceeding 5c was regarded as aneuploid. RESULTS: Image cytometry DNA analysis of the preoperative cytological specimen was possible in 41 of 51 patients. We found that in 53% of the cases with cystic metastasis, image cytometry DNA analysis, when possible, revealed aneuploidy, thus indicating malignancy. DNA analysis showed diploidy in all benign cases. CONCLUSIONS: Aneuploidy is highly specific for malignancy. Image cytometry DNA analysis increases the diagnostic sensitivity for malignant cystic metastasis and therefore is a valuable supplement to conventional cytological study for these lesions.     

First branchial cleft cyst excision with electrophysiological facial nerve localization

OBJECTIVE: To assess the safety and efficacy of surgical excision of selected first branchial cleft cysts using electrophysiological rather than anatomical location of the facial nerve. DESIGN: Retrospective review of consecutive surgical procedures by a single surgeon, using a consistent technique during a 9-year period. SETTING: Tertiary pediatric medical center. PATIENTS: Eleven children with first branchial cleft cysts. INTERVENTIONS: Selected first branchial cleft cysts were removed using a smaller surgical approach than that generally advocated. The facial nerve was localized using electrophysiological means rather than superficial parotidectomy and identification of the nerve trunk and branches. MAIN OUTCOME MEASURES: Successful removal of the lesion, avoidance of facial nerve injury, incidence of Fry syndrome, and cosmesis. RESULTS: Eleven patients underwent surgical excision of first branchial cleft cysts during a 9-year period. Ten lesions were removed without the need for anatomical localization of the facial nerve trunk. There was no facial weakness, recurrence of the lesions, or Fry syndrome during a follow-up of 6 months to 7 years. Cosmesis was superior. CONCLUSION: Electrophysiological location of the facial nerve may, in the appropriate setting, replace anatomical localization for first branchial cleft cysts that are (1) superior to the stylomastoid foramen and (2) not previously infected or surgically violated.