Diagnostic Approach to Congenital Cystic Masses of the Neck from a Clinical and Pathological Perspective

Background: neck cysts are frequently encountered in pediatric medicine and can present a diagnostic dilemma for clinicians and pathologists. Several clinical items enable to subclassify neck cyst as age at presentation, anatomical location, including compartments and fascia of the neck, and radiological presentation. Summary: this review will briefly describe the clinical, imaging, pathological and management features of (I) congenital and developmental pathologies, including thyroglossal duct cyst, branchial cleft cysts, dermoid cyst, thymic cyst, and ectopic thymus; (II) vascular malformations, including lymphangioma. Key Messages: pathologists should be familiar with the diagnostic features and clinicopathologic entities of these neck lesions in order to correctly diagnose them and to provide proper clinical management.

Intrathyroidal Branchial Cleft Cysts Presenting as Bilateral Thyroid Nodules

Introduction: Intrathyroidal brachial cleft cysts are a rare entity and are usually associated with Hashimoto’s thyroiditis. Etiology is not very clear at this point, but they are thought to arise from the ultimobranchial body remnant during embryogenesis of the gland versus originating secondary to chronic inflammation as a form of squamous metaplasia. They are a common finding in the lateral neck but not with the thyroid. We present a case of a suspicious appearing bilateral thyroid nodules which were found to branchial cleft cysts on biopsy. Clinical Case: A 56-year-old woman presented to us for evaluation of thyroid nodules. Her past medical history was pertinent for endometrial cancer status post surgery and radiation, obesity, sleep apnea, hyperlipidemia and hypothyroidism. She was diagnosed with hypothyroidism around 30 years ago and had been on Levothyroxine since then. She was recently noted to have a low TSH level on routine labs done by her primary care provider and therefore her Levothyroxine dose was adjusted. She also underwent a thyroid ultrasound due to exam findings of a palpable thyroid nodule. The ultrasound revealed a suspicious 2.2 cm hypoechoic solid nodule with irregular margins and micro-calcifications in the left mid thyroid lobe. Additionally, she was also noted to have a 0.8 cm hypoechoic nodule with irregular margins in the right mid thyroid lobe. No concerning cervical lymphadenopathy was identified. She was hence referred to us for further evaluation. She denied having compressive symptoms and did not have history of head/neck radiation or family history of thyroid cancer. Both nodules were biopsied but were interpreted as non-diagnostic with insufficient follicular cells and colloid. She underwent repeat biopsy of both nodules which again was interpreted as non-diagnostic. After discussion with patient, given her suspicious ultrasound findings and inconclusive biopsy results she was referred to endocrine surgery for surgical evaluation. Shortly after she underwent total thyroidectomy with pathology consistent with bilateral benign branchial cleft like cysts associated with adjacent thyroid follicles undergoing squamous metaplasia admixed with chronic inflammation. Conclusion: Pathogenesis of these intrathyroidal branchial cleft cysts is still unclear and not many similar cases have been reported in the literature so far. These commonly present as a painless mass but sometimes can also be an incidental finding. There are not a lot of specific details in the literature regarding imaging or pathology characteristics of these lesions therefore resulting in surgical intervention to reach a definitive diagnosis.

Gyulladás vagy daganat?

Összefoglaló. A lateralis cysticus nyaki terimék két leggyakoribb oka a branchiogen cysta és a cysticus nyaki áttét. Az átfedő lokalizáció (a leggyakrabban a IIA nyaki régióban), a betegek életkora és az esetenként hirtelen kezdet alapján a két leggyakoribb ok differenciáldiagnózisa nagy kihívást jelenthet. Egy hirtelen fellépő fájdalmas, bal oldali nyaki duzzanattal, dysphagiával és lázzal jelentkező 72 éves férfi esetét ismertetjük. A nyak komputertomográfiás vizsgálata egy 6 cm legnagyobb átmérőjű, vastag falú, többrekeszes cysticus terimét igazolt. Infektív branchiogen cysta lehetőségére gondolva az elváltozást eltávolítottuk. A szövettan azonban p16-pozitív laphámrákot igazolt. A primer tumort végül az ipsilateralis tonsilla palatina állományában sikerült azonosítani. A beteg definitív radioterápiában részesült, és 18 hónappal a diagnózis után tumormentes. A nyaki cystákon, az infektív nyaki cystákon és a cysticus metastasisokon kívül a humán papillómavírussal összefüggő szájgarati laphámrákok infektív cysticus vagy necroticus metastasisait is figyelembe kell venni a lateralis cysticus nyaki terimék differenciáldiagnózisában. Orv Hetil. 2020; 162(15): 595–600. Summary. Branchial cleft cysts and cystic neck metastases are the two most common causes of cystic lateral neck masses. Based on the overlapping location (neck level IIA), patient age at onset and the occasionally sudden onset, their differential diagnosis is challenging. We present a 72-year-old male presenting with a suddenly emerging painful, left-sided neck swelling, dysphagia and fever. Computed tomography showed a 6 cm thick-walled multicystic mass. With the suspected diagnosis of an infected branchial cleft cyst, the lesion was removed. Histology confirmed p16 positive squamous cell carcinoma. Primary tumor was identified in the ipsilateral palatine tonsil. Definive radiotherapy was performed and the patient is free of disease at the 18-month follow-up. Beyond pure and infected branchial cleft cysts and pure cystic metastases, infected cystic or necrotic metastasis of human papillomavirus associated oropharyngeal squamous cell carcinoma should be included in the differential diagnosis of cystic lateral neck lesions. Orv Hetil. 2021; 162(15): 595–600.

Second Branchial Cleft Cyst: A Case Report

Objective: Branchial anomalies are congenital pathologies that are seen in the lateral region of the neck and are generally benign. The branchial clefts develop in the 2nd-7th weeks of fetal life as embryonal development. The branchial anomalies are caused by non-disappearance, abnormal development and, incomplete emerger of the branchial clefts and pockets during embryonal development. The branchial anomalies are generally seen as the cyst. The most common cyst was the second branchial cleft cyst with 95%. Their diameter is usually a few centimeters. Case: A 37-year old male patient was admitted to the hospital because of a swelling on the left side of his neck for four years. Physical examination revealed a mobile cystic mass in level 2 at the upper left jugular region of the neck. The cystic mass and the surrounding lymph nodes were excised and sent to the pathology laboratory. A cystic mass, approximately 5x4x3.5 cm in size, containing cystic areas was observed macroscopically. Microscopically, the cyst was lined with squamous epithelium and contained large lymphocyte groups in the subepithelial area. The case was reported as the branchial cleft cyst. Conclusion: Branchial cleft cysts should be excised before reaching large sizes, as they may cause pain and pressure on the surrounding tissue. In addition, it should be kept in mind that malignancy may develop from branchial cleft cysts, although rare.

Carotid Body Tumor Presented with Lenfadenomegaly; A Rare Case

Carotid body tumors (CBTs) or chemodectomas are non-chromaffin paragangliomas. Carotid body tumors appear as painless, slowly expanding masses located in the upper part of the neck under the chin. On physical examination, it presents as a soft, non-tender mass in the lateral aspect of the neck that can move more freely in a horizontal plane than vertically, referred to as a positive Fontaine sign. The differential diagnosis of a lateral neck mass, rarely seen in adults, includes lymphadenopathy, branchial cleft cysts, salivary gland tumors, neurogenic tumors, and carotid artery aneurysms. A 62-year-old female patient presented with only neck swelling. CBTs are rarely detected in the etiology in cases of lymphadenomegaly. We wanted to present the case to the literature.

Unusual Development of Second Branchial Cleft Cyst in an Adult after URTI: Diagnosis and Detailed Approach

Branchial cleft cyst is a congenital anomaly benign in nature. It usually appears in the lateral aspect of the neck and typically presents as a unilateral fluctuant mass. We present here a 30 years old adult who is previously healthy complaining of five years history of a left lateral neck swelling following an upper respiratory tract infection. Multiple aspirations were done but all resulted in recurrence of condition. Investigations have been done and a CT neck performed which showed a complicated second branchial cleft cyst. The definite treatment for branchial cleft cysts is surgery. He underwent surgical excision of the cyst with minimal scarring. This case is important due to the limited literature done in adults with branchial cleft cysts, in addition to highlighting the correct sequence of management when detecting a lateral cervical swelling.