Branchial cleft cyst and branchial cleft cyst carcinoma, or cystic lymph node and cystic nodal metastasis?

Rationale:Human papillomavirus (HPV)-related oropharyngeal cancer is becoming more common, the primary cancer AQ4 usually occult and appearing only as cystic cervical lymph node (LN) metastasis. Distinguishing between a benign cystic lesion and cystic LN metastasis is challenging given their similar radiologic and histologic appearances.Patient concerns:A 54-year-old man presented with a bulging cystic mass measuring 6.4cm on the right side of neck.Diagnoses:Postexcision diagnosis was second branchial cleft cyst. After 2 years, the cystic mass recurred, and HPV-related tonsillar squamous cell carcinoma with cystic metastatic LNs was confirmed after wide tonsillectomy and neck dissection. The previous cystic lesion proved to be a cystic metastatic LN from the same malignancy with additional p16 immunostain.Interventions:The patient was treated with adjuvant concurrent chemoradiation therapy.Outcomes:The patient was followed up in the outpatient department with no evidence of recurrence after 1 year.Lessons:When an adult has a cystic mass in the upper neck, we must rigorously exclude it as a cystic metastatic LN of occult HPV-related oropharyngeal cancer. Additional p16 staining might be helpful.

Branchial cleft cysts are among the most common causes for a congenital neck mass. Branchial cleft cyst carcinoma (BCCC) is a type of cancer that arises from cells within these cysts. Despite the distinct criteria that have been reported for its diagnosis, BCCC remains a controversial entity. We report a case of type I, first BCCC, on a 71-year-old white man. The diagnosis was based on the proposed criteria following lesion history and location, surgical excision, histology, and panendoscopy. We argue for the first time the hypothesis that congenital branchial cysts and BCCC tumors may result from progenitor cell rests of the embryological branchial development. After a period of dormancy, these cells could eventually awake and proliferate, thus giving rise to branchial cleft cysts. With the acquirement of mutations due to genomic instability, some clones of these cells could transform to malignant stem cells, thus clinically manifesting as BCCC. The wide recognition of stem cells and their role in carcinogenesis provides a new context for the etiopathogenesis of controversial and rare entities such as the BCCC.

Papillary thyroid microcarcinomas (PTMC) can exhibit invasive behavior with lymph node metastasis despite their small size. In some cases, they may present as cystic lymph node metastases, clinically and radiologically mimicking benign lesions such as branchial cleft cysts. These misleading presentations may delay the diagnosis of an underlying thyroid malignancy. We report a rare and atypical presentation of PTMC as a large contralateral cystic lymph node metastasis initially diagnosed as a branchial cleft cyst, highlighting the need to consider metastatic thyroid carcinoma in the differential diagnosis of lateral neck cysts. A 51-year-old woman presented with a left lateral cervical mass diagnosed as a second branchial cleft cyst. Surgical excision and histology revealed a metastatic lymph node from papillary thyroid carcinoma. Subsequent workup identified a 4 mm PTMC in the right thyroid lobe. The patient underwent total thyroidectomy, lymph node dissection, and radioactive iodine therapy. PTMC may behave aggressively and present with misleading cystic nodal metastases. Clinicians should include metastatic papillary thyroid carcinoma in the differential diagnosis of isolated cystic neck masses, even in the absence of an identifiable thyroid lesion on initial imaging.

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Branchial cleft cysts are among the commonest causes for a congenital neck mass. Branchial cleft cyst carcinoma (BCCC) is a type of cancer that arises from cells within these cysts. Congenital branchial cysts and BCCC tumours may result from progenitor cell rests of the embryological branchial development.

In recent years, human papillomavirus (HPV)-positive oropharyngeal carcinomas have been increasing. The first manifestation of these tumors is frequently as cystic metastasis to cervical lymph nodes that may precede recognition of the primary tumor, so, they often result in misdiagnosis as branchial cleft cysts. We report a case of cystic cervical lymph node metastasis of HPV-positive tonsil cancer. The patient was a 70-years-old man who noticed a mass on his left neck. The tumor was large and soft, and it was diagnosed as benign in fine-needle aspiration cytology. We diagnosed the tumor as a branchial cleft cyst and undertook surgery. The histopathological diagnosis was squamous cell carcinoma arising from a branchiogenic cyst. However, because it did not satisfy the diagnostic criteria, we diagnosed the tumor as an unknown primary tumor. One year later, left tonsil cancer was suspected based on PET-CT imaging and a left tonsillectomy was undertaken, whereafter tonsil cancer was found. In p16 immunostaining, it was positive in both cystic mass and tonsil. The cervical mass was cystic lymph node metastasis of HPV-positive tonsil cancer. It is important to investigate the oropharynx, when we found cystic cervical mass, because HPV-positive oropharyngeal carcinoma frequently results in cystic neck metastasis.

The existence of primary brancial cleft cyst carcinoma is controversial since first described by Volkmann in 1882. Martin and Khafif proposed criteria for diagnosis of primary branchiogenic carcinoma, which are now widely accepted in the literature. The most important criterion is the presence of squamous cell carcinoma arising from the benign squamous epithelium of branchial cleft cyst. We report a case of a 69-year-old man with branchial cleft cyst carcinoma, which was suspected to be cervical lymph node metastases from an unknown primary tumor. The subject underwent a surgical operation, and postoperative pathologic findings revealed a squamous cell carcinoma developing in the stratified squamous epithelial lining of the branchial cleft cyst. This case meets the criteria established by Martin and Khafif, thus we present it with a review of lit erature.� Korean J Otorhinolaryngol-Head Neck Surg 2013;56:791-4 Key WordsZZBranchial cleft cyst ㆍBranchial cleft cyst carcinoma ㆍMetastasis.

: Branchial cleft cyst carcinoma (BCCC) is an extremely rare malignancy originating from cells within the branchial cleft cyst wall. A 73-year-old man presented with a cystic mass with cellulitis mimicking abscess initially and recurred 3 years later as complex cystic lesion in right neck level II with multiple necrotic ipsilateral lymphadenopathy. The pathological diagnosis of cystic lesion was squamous cell carcinoma, suggesting possibility of originating from branchial cleft cyst. There was no identifiable primary cancer elsewhere by a thorough evaluation; eventually final diagnosis was branchial cleft cyst carcinoma to meet the modified criteria of Khafif et al. Up to the present time, there has been no evidence of recurrence. Although the BCCC is very rare, accurate diagnosis is important to plan proper treatment for patient. This report should help increase awareness of BCCC, which should be included in the differential diagnosis of a cystic neck mass.

: Cystic lymph node metastases have been associated with tonsil cancer. A subset of oropharyngeal cancers contain human papillomavirus (HPV) DNA. The clinical and virologic associations of cystic nodal metastasis in head and neck cancer (HNSCC) were investigated. : A retrospective review of patients undergoing neck dissection between 2002 and 2004 identified patients with cystic lymph node metastases. Clinical and pathologic information was recorded. The presence of HPV DNA was analyzed using in situ hybridization in a subset of patients. : One hundred neck dissections were reviewed and 20 had cystic nodes. Seventeen of these patients had primary tumors arising in the palatine or lingual tonsil. Three were "unknown primary." HPV DNA was present in 11 of 13 patients with cystic metastases with tissue available for analysis (87%). No HPV DNA was identified in tumor from 21 patients with solid nodal metastasis (p <.0001). : Cystic cervical lymph node metastasis is strongly associated with HPV-related tonsillar HNSCC: (c) 2008 Wiley Periodicals, Inc. Head Neck 2008.

Introduction:Most metastatic lymph nodes from head and neck malignancy are solid. Cystic nodes are found in 33% - 61% of carcinomas arise from Waldeyer’s ring, of which only 1.8% - 8% originate are from the nasopharynx. Some cystic cervical metastases were initially presumed to be branchial cleft cyst. This case report aims to highlight the unusual presentation of cystic cervical metastasis secondary to nasopharyngeal carcinoma in a young adult. The histopathology, radiological features and management strategy were discussed. Case Report:A 36-year-old man presented with a solitary cystic cervical swelling, initially diagnosed as branchial cleft cyst. Fine needle aspiration yielded 18 ml of straw-coloured fluid. During cytological examination no atypical cells were observed. Computed tomography of the neck showed a heterogeneous mass with multiseptation medial to the sternocleidomastoid muscle. Histopathological examination of the mass, post excision, revealed a metastatic lymph node. A suspicious mucosal lesion at the nasopharynx was detected after repeated thorough head and neck examinations and the biopsy result confirmed undifferentiated nasopharyngeal carcinoma. Conclusion:Cystic cervical metastasis may occur in young patients under 40 years. The primary tumour may not be obvious during initial presentation because it mimicks benign branchial cleft cyst clinically. Retrospective review of the computed tomography images revealed features that were not characteristic of simple branchial cleft cyst. The inadequacy of assessment and interpretation had lead to the error in diagnosis and subsequent management. Metastatic head and neck lesion must be considered in a young adult with a cystic neck mass.

Multidetector computerized tomographic fistulography in the evaluation of congenital branchial cleft fistulae and sinuses

Two patients (a 58-year-old man and a 58-year-old woman) had branchial cysts in the parotid gland, and the other patients had one in the submandibular gland. Branchial cysts usually occur in the lateral cervical area and are rare in salivary glands. Branchial cysts in salivary glands are classified as first branchial cleft cyst and second branchial cleft cyst depending on the site of origin.First branchial cleft cysts are rarer than second branchial cleft cysts and usually appear in the preauricular area. The cysts are lined with stratified squamous epithelium, and scant lymphoid tissue is seen in the subepithelial area. Second branchial cleft cysts usually occur in the lower portion or superficial lobe of a parotid gland. They are lined with stratified squamous epithelium plus columnar or cuboidal epithelium. Beneath which is abundant lymphoid tissue with clear lymphoid follicles. Clinical and pathological examinations showed that the two parotid gland cysts were probably second branchial cleft cysts and the one in the submandibular gland was probably a first branchial cleft cyst.

Distinguishing branchial cleft cysts (BrCCs) from cystic metastases of human papillomavirus (HPV) positive tonsillar or base of tongue squamous cell carcinoma and cancer of unknown primary (CUP) is challenging. Fine needle aspiration cytology (FNAC) from cystic metastasis can be nonrepresentative, while reactive squamous cells from BrCC can be atypical. It is unclear whether benign characteristics and the absence of HPV-DNA in FNAC can enhance distinguishing BrCC from a cystic metastasis; therefore, we investigated here. Morphology and HPV-DNA in FNAC were reevaluated preoperatively and correlated to final diagnosis of 304 BrCC and CUP patients at Karolinska University Hospital during 2016-2023. All 176 cases finally diagnosed as BrCC were HPV-DNA negative in the preoperative FNAC. HPV-DNA was present in 100/128 (78.1%) of the FNAC with a solitary cystic neck metastasis and in 3/3 CUPs separately investigated on surgical specimens, which is distributed in 40/58 (69.0%) CUP, 40/41 (97.6%) tonsillar cancer, 21/22 (95.5%) base of tongue cancer, 2/2 uterine cervical cancer, and 0/5 non-HPV-related cancers. All cases with final BrCC diagnosis were HPV-DNA negative in FNAC. HPV-DNA was only present in FNAC of malignant cystic neck masses of HPV-related tumors or CUP. The data suggest that HPV-DNA analysis in FNAC enhances the diagnostics of cystic masses of the neck. A FNAC with a benign morphology and the absence of HPV-DNA indicated a BrCC, while an HPV-DNA positive aspirate irrespective of morphology suggested an HPV-DNA positive cancer or CUP.

Head and neck squamous cell carcinoma (HNSCC) commonly spreads to regional deep cervical nodes. In most cases, these metastases present as firm, solid masses in the designated lymph node chains. A distinct subset of metastatic nodes present as cystic masses, with most of the volume made up of a liquid center surrounded by a thin solid rim. It has been observed that certain squamous cell carcinoma (SCC) subsites are more likely to produce metastases that are cystic. These sites predominantly include primary tumors of tonsil tissue from Waldeyer's ring. In the past, these cystic cancers often have been erroneously diagnosed as branchiogenic carcinomas, that is, a branchial cleft cyst that has undergone malignant degeneration. Today, most authors have concluded that so-called branchiogenic carcinomas are actually cystic metastases in the neck probably arising from an oropharyngeal primary SCC. The purpose of this work is to consider the phenomenon of cystic lymph node metastasis in head and neck cancer in depth. A review of the relevant English-language literature linking cystic metastasis and head and neck cancer was performed. These studies indicate that lateral cystic masses in adults often represent an occult primary cancer originating in the epithelium within Waldeyer's ring. Adult patients who are initially seen with a lateral cystic neck mass must be presumed to have a cancer until proven otherwise. The mass should be biopsied by fine-needle aspiration (FNA). However, negative FNA findings may be misleading; therefore, an excisional biopsy and examination under anesthesia with directed biopsies of Waldeyer's ring and bilateral tonsillectomy should be considered a part of the diagnostic workup.

We present a series of three case reports of patients over the age of 40 with cystic swellings in the lateral neck. Clinically they masqueraded as branchial cysts, but subsequently were diagnosed as being squamous cell carcinoma cystic lymph node metastasis arising from an occult tonsillar primary. Currently there is an absence of national guidelines for the treatment of lateral neck cysts in the over 40s' age group that subsequently prove to be cystic metastases from occult tonsillar primaries. This disease process is more common than thought, with up to 80 per cent of so-called branchial cysts in the over 40s' age group being malignant. We recommend that patients over the age of 40 presenting with lateral cystic swellings in the neck should have a high suspicion of malignancy and require a panendoscopy, ipsilateral tonsillectomy and blind biopsies of Waldeyer's ring. This avoids inadvertent excision of a possible cystic lymph node metastasis. If the panendoscopy histology proves to be benign, then proceed to excision of the cyst with frozen section analysis of it. If this confirms it to be benign then that is all that is necessary; if the frozen section is however positive for carcinoma then the surgeon can proceed at that time to a formal neck dissection and therefore avoid a further procedure. In the event of an occult tonsillar malignancy, excision of the cyst as part of a neck dissection with post-operative radiotherapy is recommended. It is our aim to treat a cystic lymph node metastasis as you would a solid lymph node metastasis.