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Virchows Archiv : An International... Oct 2023Branchioma (previously called ectopic hamartomatous thymoma, branchial anlage mixed tumor, or thymic anlage tumor) is a rare lower neck lesion with an adult male...
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.
Topics: Aged; Female; Humans; Male; Branchioma; Organoids; Repressor Proteins; Retinal Neoplasms; Retinoblastoma; Soft Tissue Neoplasms
PubMed: 37401932
DOI: 10.1007/s00428-023-03592-9 -
Asian Journal of Surgery Aug 2023
Topics: Humans; Branchioma; Lymphatic Metastasis; Thyroid Neoplasms; Carcinoma, Papillary; Lymph Nodes
PubMed: 36858937
DOI: 10.1016/j.asjsur.2023.02.060 -
Romanian Journal of Morphology and... 2022Congenital branchial fistulas and cysts are an interesting subject in cervical pathology. There are congenital malformations with late expression in young adults that... (Review)
Review
Congenital branchial fistulas and cysts are an interesting subject in cervical pathology. There are congenital malformations with late expression in young adults that require correct diagnosis and appropriate treatment. We review essential notions of cervical embryology to understand the mechanism of occurrence of these malformations and their clinical expression. The most common cases present vestiges from the second branchial arch, with the appearance of a cystic tumor or a fistulous orifice on the anterior edge of the sternocleidomastoid muscle, at the level of the hyoid bone. Performant imagery is mandatory for appropriate diagnosis, so we recommend a cervical computed tomography (CT) scan or cervical magnetic resonance imaging (MRI) to evaluate the relations with great vessels of the neck or other lesions. The treatment implies complete surgical excision because otherwise there is a high risk of recurrence of the lesion. The differential diagnosis includes cystic lymphangioma, dermoid cyst, tuberculous adenopathy, cystic hygroma, lateral cervical cystic metastases. Histological examination is mandatory for a definite diagnosis. Also, there is a small percentage of malignancy of these malformations, but it is very important to check that all the histological diagnostic criteria for a primary branchiogenic carcinoma are accomplished. Therefore, although it is a benign cystic cervical pathology, the diagnosis and treatment must be made very accurately for a complete cure, and this review aims to summarize the current approach to branchial remnants of the neck.
Topics: Young Adult; Humans; Branchioma; Lymphangioma, Cystic; Tomography, X-Ray Computed; Magnetic Resonance Imaging; Pharyngeal Diseases; Diagnosis, Differential; Neck; Head and Neck Neoplasms
PubMed: 36588486
DOI: 10.47162/RJME.63.3.02 -
International Journal of Surgery Case... Oct 2022We present the case of a 24-year-old woman with respiratory distress associated with a cyst of the fourth branchial cleft that displaced and compressed the upper airway,...
BACKGROUND
We present the case of a 24-year-old woman with respiratory distress associated with a cyst of the fourth branchial cleft that displaced and compressed the upper airway, so the cervical mass was surgically resected, the patient recovered completely.
CASE PRESENTATION
We present the case of a 24 year old female no other pertinent medical history who presents to the emergency department of way outpatient to respiratory distress associated with a cervical mass. A computed tomography (CT) scan shows a right cervical cystic mass that was displacing and compressing the upper airway. A total resection of the cystic mass was performed, after which the patient recovered completely. The histopathological analysis indicated a branchial cleft cyst which, due to its location, was thought to be the fourth branchial cleft, a rare congenital anomaly.
CONCLUSIONS
Fourth branchial cleft cysts are rare malformations. They should be taken into consideration in the differential diagnosis of cervical masses in young adults, especially in situations of potentially life threatening airway compromise where an emergent procedure should be performed to guarantee the patient's life, the diagnosis is based on an adequate history and physical examination, with the support of imaging studies, with CT scan imaging being preferred as it provides information for surgical planning. Treatment is based on complete resection of the cystic mass, which relieves the symptoms of mass effect and decreases the risk of recurrence.
PubMed: 36183589
DOI: 10.1016/j.ijscr.2022.107668 -
Asian Journal of Surgery Mar 2023
Topics: Humans; Thyroid Neoplasms; Branchioma
PubMed: 36117065
DOI: 10.1016/j.asjsur.2022.08.062 -
The Journal of Craniofacial SurgerySurgical removal is the treatment of choice for second branchial cleft cysts (SBCCs), which are congenital anomalies. The conventional procedure is performed through a... (Meta-Analysis)
Meta-Analysis
Surgical removal is the treatment of choice for second branchial cleft cysts (SBCCs), which are congenital anomalies. The conventional procedure is performed through a transcervical approach, which would lead to a visible scar in the anterior neck. Conversely, the postauricular approach could keep the scar in the hairline or retroauricular sulcus, rendering it almost invisible after the surgery. The purpose of this meta-analysis was to evaluate the differences between the postauricular and conventional transcervical approaches to SBCC excision. A systematic review was performed using PubMed, Embase, and the Cochrane Library to identify studies comparing outcomes of SBCC surgery via postauricular and conventional transcervical approaches. The data of interest were analyzed with Comprehensive Meta-Analysis software (version 3). The data of interest were analyzed by calculating the risk difference (RD), the standardized mean difference, and the mean difference (MD) with the 95% confidence interval (CI). Three studies were eligible for the final analysis. The pooled analysis demonstrated that the cosmetic satisfaction score was significantly higher with the postauricular approach (standardized mean difference, 2.12; 95% CI, 0.68-3.56). The operative duration was significantly longer with the postauricular approach than with the conventional transcervical approach (MD, 12.81; 95% CI, 2.39-23.23). The incidences of postoperative marginal mandibular nerve palsy (RD, 0.00; 95% CI, -0.09 to 0.09), bleeding complications (RD, -0.02; 95% CI, -0.09 to 0.05), salivary complications (RD, -0.00; 95% CI, -0.07 to 0.06), cyst size (MD, 0.02; 95% CI, -0.96-0.99), and length of hospital stay (MD, -2.50; CI, -7.30 to 2.30) were comparable between the 2 groups. The postauricular approach is feasible for use in SBCC excision and yields better cosmetic outcomes, a longer operative duration, and a similar rate of complications.
Topics: Humans; Branchioma; Cicatrix; Treatment Outcome; Neck Dissection; Head and Neck Neoplasms; Surgical Wound
PubMed: 35882056
DOI: 10.1097/SCS.0000000000008741 -
Acta Cytologica 2022Cystic lesions of the head and neck are a diagnostic challenge since they are seen in the clinical presentation of a wide variety of conditions. Herein, common and... (Review)
Review
BACKGROUND
Cystic lesions of the head and neck are a diagnostic challenge since they are seen in the clinical presentation of a wide variety of conditions. Herein, common and uncommon entities that present as cystic lesions in the head and neck are reviewed.
SUMMARY
In this study, peer-reviewed articles were selected using the database PubMed, Google, Google Scholar, and Scopus. Emphasis was placed on peer-reviewed articles that discuss the cytomorphology and differential diagnosis of entities that present as cystic lesions of the head and neck. In the anterior neck, both benign and malignant neoplasms can present, including papillary thyroid carcinoma (PTC), thyroid adenomatoid nodule, parathyroid cysts, and thyroglossal cysts. In the lateral neck, branchial cleft cyst, PTC, ectopic thyroid cyst, and squamous cell carcinomas (human papilloma virus and non- human papilloma virus-related) are common. Age over 40 years raises the possibility of malignancy. In the deep neck, mostly benign cystic entities occur such as a pleomorphic adenoma, paraganglioma, schwannoma, branchial cyst, epidermal inclusion cyst, and lymphoepithelial cyst. Lesions with squamous cell features can pose diagnostic dilemmas.
CONCLUSION
Cytologic examination of head and neck cysts can provide valuable information regarding the nature of the cystic lesions. Information about anatomic site and clinical history can assist with the differential diagnoses. Ancillary studies can improve the diagnosis in some cases. Each case should be evaluated very carefully since there are a wide variety of congenital conditions, infectious/inflammatory conditions, benign neoplasms, and primary and secondary malignancies presenting as a cystic mass in the head and neck.
Topics: Adult; Branchioma; Diagnosis, Differential; Head and Neck Neoplasms; Humans; Neck; Thyroid Cancer, Papillary; Thyroid Neoplasms
PubMed: 35717936
DOI: 10.1159/000525144 -
The Journal of Laryngology and Otology Jan 2023Lateral cervical cysts are usually considered as of branchial cleft origin, despite many studies showing that branchial cysts do not arise from the remnants of the... (Review)
Review
BACKGROUND
Lateral cervical cysts are usually considered as of branchial cleft origin, despite many studies showing that branchial cysts do not arise from the remnants of the branchial apparatus. In the same way, some authors still consider that a true clinicopathological entity such as 'branchial cleft cyst carcinoma' could exist, at least in theory. Despite insufficient evidence in support of the branchial theory, a number of publications continue to emphasise this concept.
METHODS
A literature review of articles in Medline and PubMed databases was carried out to retrieve papers relevant to the topic.
RESULTS AND CONCLUSION
The evidence from lateral cervical cyst studies and knowledge about cystic metastasis of Waldeyer's ring could be applicable for both diagnoses. Terms such as 'branchial cleft cyst' and 'branchial cleft cyst carcinoma' are confusing and misleading, and it is questionable as to whether their usage is still tenable.
Topics: Humans; Branchioma; Head and Neck Neoplasms; Branchial Region; Lymph Nodes; Carcinoma, Squamous Cell; Diagnosis, Differential
PubMed: 35712979
DOI: 10.1017/S0022215122001293 -
Journal of Ultrasonography Mar 2022Branchial anomalies result from incomplete obliteration of the branchial arch structures during embryogenesis. Second branchial arch anomalies are commonly found on the...
AIM OF THE STUDY
Branchial anomalies result from incomplete obliteration of the branchial arch structures during embryogenesis. Second branchial arch anomalies are commonly found on the lower third of the neck, with an opening at the anterior border of the sternocleidomastoid muscle, and may drain secretions or purulent material. This case demonstrates the use of handheld point-of-care ultrasound to aid in the diagnosis of a branchial anomaly.
CASE DESCRIPTION
The patient presented with a "hole" in the neck with intermittent drainage from the site. A 2 mm defect in the skin was noted anterior to the sternocleidomastoid muscle. A handheld ultrasound system was used to identify a well-defined, hypoechoic, cyst-like structure. Given the history, physical findings, and point-of-care ultrasound imaging, the diagnosis of a second branchial cleft sinus was made.
CONCLUSIONS
The use of point-of-care ultrasound and knowledge of the sonographic characteristics of these lesions can assist the physician in the diagnosis of branchial arch anomalies.
PubMed: 35449698
DOI: 10.15557/JoU.2022.0012 -
Head and Neck Pathology Mar 2022The changes made in the fifth edition of the WHO Classification of Head and Neck Tumors demonstrate the recent diagnostic, histopathological, and molecular advances in... (Review)
Review
The changes made in the fifth edition of the WHO Classification of Head and Neck Tumors demonstrate the recent diagnostic, histopathological, and molecular advances in the field, and this updated information will hopefully lead to improved and standardized tumor subtyping. This review summarizes the changes related tumors and tumor-like lesions of the neck and lymph nodes (Chapter 11), metastasis to the head and neck region (Chapter 15), and melanocytic tumors (Chapter 10).
Topics: Head and Neck Neoplasms; Humans; Lymph Nodes; Neck; World Health Organization
PubMed: 35312983
DOI: 10.1007/s12105-022-01433-w