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Asian Journal of Surgery Mar 2023
Topics: Humans; Thyroid Neoplasms; Branchioma
PubMed: 36117065
DOI: 10.1016/j.asjsur.2022.08.062 -
European Annals of Otorhinolaryngology,... Sep 2017
Topics: Branchioma; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Parotid Gland
PubMed: 28395960
DOI: 10.1016/j.anorl.2017.03.004 -
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 -
Ectopic hamartomatous thymoma (biphenotypic branchioma): A case report and review of the literature.Medicine Jul 2018Ectopic hamartomatous thymoma is a very rare soft tissue neoplasm that commonly occurs in the lower neck of adult men. (Review)
Review
RATIONALE
Ectopic hamartomatous thymoma is a very rare soft tissue neoplasm that commonly occurs in the lower neck of adult men.
PATIENT CONCERNS
A 32-year-old male presented 1-year history of the tumor lying in left supraclavicular fossa.
DIAGNOSES
Initial consideration of ultrasound and computed tomography was lipoma. After the operation, the pathologist diagnosed it as Ectopic Hamartomatous Thymoma.
INTERVENTIONS
A complete resection was performed.
OUTCOMES
To date, the patient had no evidence of metastasis or recurrence for 26 months after the operation.
LESSONS
Ectopic hamartomatous thymoma is rare. The mastery of the clinical and pathological features of the disease will contribute to the rapid diagnosis and treatment of the disease. In addition, it can be considered to update the name to "biphenotypic branchioma" in order to avoid conceptual confusion.
Topics: Adult; Branchioma; Choristoma; Diagnosis, Differential; Hamartoma; Humans; Male; Neck; Thymoma; Thymus Neoplasms; Tomography, X-Ray Computed; Ultrasonography
PubMed: 29995801
DOI: 10.1097/MD.0000000000011459 -
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 -
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 -
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 -
Head and Neck Pathology Dec 2020Ectopic hamartomatous thymoma is a rare neck lesion originally thought to represent a non-neoplastic hamartoma, even though thymic origin has been questioned, and there...
Ectopic hamartomatous thymoma is a rare neck lesion originally thought to represent a non-neoplastic hamartoma, even though thymic origin has been questioned, and there is uncertainty about whether the lesion is a neoplasm. We investigated the genetics by performing targeted next generation sequencing (NGS). Three cases were identified from the authors' consultation files. A custom, targeted NGS panel including 1385 pan-cancer-related genes was performed on all cases. Three patients included 2 males and 1 female, aged 50, 58 and 70 years, respectively (mean 59.3 years), with tumors arising in the low anterior neck. All cases showed classical histologic features of EHT, with one case showing intraductal carcinoma in association with the EHT. By targeted NGS, one case harbored a hotspot HRAS mutation (p.Gln61Lys), while the other two cases only showed non oncogenic variants. Dual mesoderm and endoderm derivation/differentiation (biphenotypic) has been previously recognized, with epithelial and myoepithelial components, and arising from the apparatus contributing to neck development (branchial apparatus). Thus, EHT has been shown to have genetic alterations in HRAS. These findings, without evidence of thymic derivation or an ectopic tissue location, strongly support that EHT is a true neoplasm. The name biphenotyic branchioma more correctly reflects the true nature of this dual mesoderm and endoderm derived tumor occurring in the lower neck.
Topics: Aged; Branchioma; Choristoma; Female; Hamartoma; Head and Neck Neoplasms; Humans; Male; Middle Aged; Mutation; Proto-Oncogene Proteins p21(ras); Thymus Gland; Thymus Neoplasms
PubMed: 32026292
DOI: 10.1007/s12105-020-01132-4 -
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 -
Head and Neck Pathology Jun 2018Ectopic hamartomatous thymoma (EHT) is a rare benign neoplasm of the lower neck suggesting branchial origin. Despite use of the term thymoma in the nomenclature, there... (Review)
Review
Ectopic hamartomatous thymoma (EHT) is a rare benign neoplasm of the lower neck suggesting branchial origin. Despite use of the term thymoma in the nomenclature, there is no evidence of thymic origin or differentiation. It affects middle-aged adults with a remarkable male predominance. To date less than 80 cases have been reported in the English literature. We present here two additional cases of EHT. The first is a benign case in a 31-year-old man, showing typical histological features. The second is a malignant case in a 70-year-old woman, showing intraductal carcinoma arising in intimate association with an EHT. These cases are presented in the context of a review of cases reported in the English literature. The exact origin has not been identified, but is considered to be of branchial apparatus, creating a quandary about the best terminology. Recently, the designation "branchial anlage mixed tumor" or "thymic anlage tumor" were proposed, but do not quite reflect the true nature of the neoplasm. To avoid taxonomic confusion, international consensus on terminology is desired. As this entity is a neoplasm that shows dual mesoderm and endoderm derivation/differentiation, we propose a new name "biphenotypic branchioma."
Topics: Adult; Aged; Branchioma; Carcinoma, Ductal; Female; Hamartoma; Head and Neck Neoplasms; Humans; Male; Terminology as Topic; Thymoma
PubMed: 28879635
DOI: 10.1007/s12105-017-0854-6