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AJNR. American Journal of Neuroradiology Nov 2021Third and fourth branchial apparatus anomalies are rare congenital anomalies. The purpose of this study was to investigate imaging features of these lesions on fetal MR...
BACKGROUND AND PURPOSE
Third and fourth branchial apparatus anomalies are rare congenital anomalies. The purpose of this study was to investigate imaging features of these lesions on fetal MR imaging in comparison with lymphatic malformations, the major competing differential diagnosis in these cases.
MATERIALS AND METHODS
A retrospective review of our institutional fetal MR imaging database between 1997 and 2019 resulted in 4 patients with confirmed third and fourth branchial apparatus anomalies and 14 patients with confirmed lymphatic malformations. The imaging features were reviewed by consensus, and the Fisher exact test was used to evaluate statistically significant differences between these 2 populations.
RESULTS
Four cases of third and fourth branchial apparatus anomalies were imaged at 29 weeks 1 day (range, 23 weeks 1 day to 33 weeks 4 days). All 4 cases demonstrated unilateral, unilocular cysts without reduced diffusion or hemorrhage and a medially directed beaked contour that tapered between the spine and airway at the level of the piriform sinus. Compared with 14 cases of fetal lymphatic malformations imaged at 27 weeks 6 days (range, 21 weeks 3 days to 34 weeks 6 days), third and fourth branchial apparatus cysts were significantly more likely to be unilocular (< .005) and to have a medially beaked contour (< .005). The combination of features of unilateral, unilocular, and medially beaked contour was observed only in the fetuses with third and fourth branchial apparatus cysts (< .001).
CONCLUSIONS
The presence of a left-sided unilocular cyst with a medially beaked contour tapering at the level of the piriform sinus suggests the diagnosis of third and fourth branchial apparatus anomaly. Accurate diagnosis in the prenatal period allows proper counseling, genetic work-up, and treatment, potentially sparing patients from recurrent infections and associated morbidity.
Topics: Branchial Region; Branchioma; Female; Head and Neck Neoplasms; Humans; Pregnancy; Prenatal Diagnosis; Retrospective Studies
PubMed: 34620588
DOI: 10.3174/ajnr.A7293 -
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 -
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 -
BMJ Case Reports Oct 2021Cervical thymic cysts (CTCs) represent 1% of all cervical cystic masses. A review of the literature found that CTCs are typically asymptomatic, with a propensity to be...
Cervical thymic cysts (CTCs) represent 1% of all cervical cystic masses. A review of the literature found that CTCs are typically asymptomatic, with a propensity to be left sided. CTCs often require histological evaluation for diagnosis. A 27-year-old male patient presented to an outpatient otolaryngology clinic with worsening bilateral jaw and neck pain and an incidental right-sided neck mass found on cervical MRI. Preoperative differential diagnosis included venolymphatic malformation versus branchial cleft cyst. Histological examination of the excised specimen provided diagnosis of a CTC. Postoperatively, the patient reported improvement in cervical pain. CTCs are a rare cause of lateral neck mass in young adults. Typical presentation included neck enlargement with no symptoms or in some cases compressive symptoms. It is important to consider CTCs when formulating a differential for a lateral neck mass.
Topics: Adult; Branchioma; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Mediastinal Cyst; Neck; Young Adult
PubMed: 34625440
DOI: 10.1136/bcr-2021-244187 -
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 -
The New England Journal of Medicine Oct 2016
Topics: Branchial Region; Branchioma; Child, Preschool; Craniofacial Abnormalities; Head and Neck Neoplasms; Humans; Male; Pharyngeal Diseases; Tomography, X-Ray Computed
PubMed: 27797306
DOI: 10.1056/NEJMicm1503044 -
Journal of Cancer Research and... 2013Branchiogenic carcinoma, which is squamous cell carcinoma arising in a branchial cyst, is extremely rare and a highly contentious clinicopathologic entity. A 56-year-old... (Review)
Review
Branchiogenic carcinoma, which is squamous cell carcinoma arising in a branchial cyst, is extremely rare and a highly contentious clinicopathologic entity. A 56-year-old male presented with a well-defined, fluctuant, painless mass on the right side of the neck which was excised with a diagnosis of branchial cyst. The pathological diagnosis was branchial cleft squamous cell carcinoma, which was characterized microscopically by a branchial cleft cyst with a tumour and a non-tumour transitional zone. The report highlights the controversy surrounding this entity and establishes the diagnosis based ona set of histopathologic criteria proposed by Martin et al. and later modified by Khafif et al.
Topics: Branchioma; Carcinoma, Squamous Cell; Fluorodeoxyglucose F18; Head and Neck Neoplasms; Humans; Male; Middle Aged; Multimodal Imaging; Positron-Emission Tomography; Tomography, X-Ray Computed; Ultrasonography
PubMed: 23575096
DOI: 10.4103/0973-1482.110380 -
BMJ Case Reports Aug 2021First branchial cleft anomalies are quite rare, and the majority of them are found in and around the ear canal, mostly superficial to the facial nerve. Very rarely, the...
First branchial cleft anomalies are quite rare, and the majority of them are found in and around the ear canal, mostly superficial to the facial nerve. Very rarely, the anomalous tract of the first branchial cleft can go deeper to the facial nerve, necessitating a meticulous and extensive surgery. A 21-year-old student presented with slowly increasing cystic swelling in the infra-auricular region. Findings of the magnetic resonance imaging were consistent with the first branchial cleft cyst, which also exhibited a deeper extent of the lesion into the parapharyngeal space. The entire tract was excised along with the superficial parotidectomy by an open approach. In addition to illustrating the presentation and management of this peculiar case, the present report also reviews the latest literature around their management.
Topics: Adult; Branchial Region; Branchioma; Ear Canal; Head and Neck Neoplasms; Humans; Parapharyngeal Space; Young Adult
PubMed: 34446522
DOI: 10.1136/bcr-2021-244842 -
Journal of Korean Medical Science Aug 2002Second branchial cleft cysts are the most common type of branchial abnormalities and usually found high in the neck. Oropharyngeal presence of branchial cleft cyst is... (Review)
Review
Second branchial cleft cysts are the most common type of branchial abnormalities and usually found high in the neck. Oropharyngeal presence of branchial cleft cyst is very rare. We report a case of oropharyngeal branchial cleft cyst in 2-yr-old girl with about 1 x 1 cm sized cystic mass, which had not any specific symptom. It was removed completely under impression of mucocele and did not have tract-like structure. However, cyst had a squamous epithelium-lined wall with lymphoid aggregation in histopathologic study, which was characteristic finding of branchial cleft cyst. Patient discharged without any complication and there was no evidence of recurrence for 18 months follow-up. We review reported oropharyngeal or nasopharyngeal presentation of these cases in English literature and embryological explanation.
Topics: Branchioma; Child, Preschool; Diagnosis, Differential; Female; Humans; Oropharyngeal Neoplasms; Tomography, X-Ray Computed
PubMed: 12172058
DOI: 10.3346/jkms.2002.17.4.564 -
Ear, Nose, & Throat Journal May 2022Branchial cleft anomalies are embryonic remnants of the branchial arches and are described as the second most common congenital neck mass. Depending on their extent,...
Branchial cleft anomalies are embryonic remnants of the branchial arches and are described as the second most common congenital neck mass. Depending on their extent, these anomalies are classified as a cyst, sinus, or fistula with branchial cysts being the most common. Branchial cysts deriving from the second branchial arch are by far the most common, accounting for approximately 95% of all cases. Complete second branch arch fistulas with both an internal and external opening are a rare variant of this anomaly, and even less have been well-documented on computed tomography (CT) imaging in the literature. We present here a case of a 20-year-old female with CT findings consistent with a complete second branchial arch fistula extending from the tonsillar fossa to the external lateral neck.
Topics: Adult; Branchial Region; Branchioma; Craniofacial Abnormalities; Female; Fistula; Head and Neck Neoplasms; Humans; Pharyngeal Diseases; Tomography, X-Ray Computed; Young Adult
PubMed: 32921177
DOI: 10.1177/0145561320956482