Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40-100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10-20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.
- MeSH
- Branchioma * pathology MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Humans MeSH
- Molecular Biology MeSH
- Thymus Neoplasms * MeSH
- Neoplasms, Glandular and Epithelial * MeSH
- Soft Tissue Neoplasms * pathology MeSH
- Retinal Neoplasms * MeSH
- Retinoblastoma * genetics pathology MeSH
- Thymoma * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
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.
- MeSH
- Branchioma * pathology MeSH
- Humans MeSH
- Soft Tissue Neoplasms * MeSH
- Retinal Neoplasms * MeSH
- Organoids pathology MeSH
- Repressor Proteins MeSH
- Retinoblastoma * genetics pathology MeSH
- Aged MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Autoři popisují velmi neobvyklý případ dvojité zevní metachronní fistulizace branchiogenní cysty z druhé žaberní brázdy u 54letého muže. Značné obtíže v klinické diferenciální diagnóze této vývojové anomálie, zahrnující především maligní nádor a tuberkulózu, byly vyřešeny až histopatologickým vyšetřením chirurgického specimen. Mechanizmus vzniku obou sukcesivně se manifestujících píštělí, vzniklých v terénu chronického nespecifického zánětu, je nejasný. Chybění jejich organoidního uspořádání však vylučuje, že byly – na rozdíl od cysty – reliktem žaberního aparátu.
The authors describe a very unusual case of double external metachronous fistulation of a second branchial cleft cyst in a 54-year-old man. Significant difficulties in the clinical differential diagnosis of this developmental anomaly, comprising primarily malignant tumor and tuberculosis, were resolved only with histopathologic examination of the surgical specimen. The mechanism of the formation of both successively manifesting fistulas, developing in the milieu of chronic non-specific inflammation, is not clear. However, the absence of organoid pattern of the fistulas precludes that they were – unlike the cyst – relicts of the branchial apparatus.
- MeSH
- Branchioma * surgery diagnosis MeSH
- Diagnosis, Differential MeSH
- Histological Techniques MeSH
- Middle Aged MeSH
- Humans MeSH
- Treatment Outcome MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Východiska: Primární branchiogenní karcinom (branchiogenic carcinoma - BC) v laterální krční cystě je výjimečná klinická jednotka. V naprosté většině případů se jedná o cystickou metastázu okultního primárního nádoru. Martin a Khafif stanovili diagnostická kritéria zdůrazňující především histologicky potvrzenou transformaci normální epiteliální výstelky cysty s přechodnou zónou transformace po jednoznačný invazivní karcinom a důsledné vyloučení primárního tumoru. Pozorování: Prezentován je případ pacienta (80 let) s 8letou anamnézou zduření na krku - suspektní laterální krční cystou, pro kterou byl sledován. Chirurgické řešení nebylo indikováno pro významné interkurence. Přistoupeno bylo k exstirpaci až při náhlé progresi infiltrátu. Histologie překvapivě odhalila BC, jednoznačně splňující kritéria. Závěr: Představujeme ojedinělý případ onemocnění, jehož existence je jednoznačně definována kritérii dle Martina a Khafifa. Nedávno byl v literatuře prezentován ojedinělý případ splňující zmíněná kritéria, odpovídající i našemu pacientovi, s důrazem především na histologii dokumentující transformaci epitelu s přechodnou zónou až po invazivní spinocelulární karcinom v jedné patologické jednotce s dlouhodobým sledováním bez diagnostiky primárního nádoru.
Background: Primary branchiogenic carcinoma (BC) is an exceptional diagnostic entity. In most cases, suspicion of BC is confirmed to be a cystic lymph node metastasis of an occult primary tumor. Martin and Khafif therefore established diagnostic criteria, emphasizing above all the importance of a histologically assessed transformation of cystic lining epithelium into an invasive squamous cell carcinoma in one pathological lesion after the exclusion of a primary tumor. Case report: We present a case report of an 80-year-old patient who presented for a follow-up for an 8-year history of a benign lateral cervical cyst, which was not surgically treated due to the patient‘s high risk of complications from general anesthesia. In spite of the risk, the surgery was performed after a sudden clinical progression, and surprisingly, post-operative histology revealed BC. Conslusion: BC is a very rare entity, strictly defined by Martin´s and Khafif´s criteria. Recently, BCs have been presented in the literature only as unique case reports responding as in our patient to the above mentioned criteria, with particular emphasis on the histological aspect, imaging the cystic lining epithelium transforming into an invasive squamous cell carcinoma in one pathological lesion and a long history without evidence of primary tumor.
- Keywords
- diagnostická kritéria, primární branchiogenní karcinom, laterální krční cysta,
- MeSH
- Branchioma * diagnosis pathology therapy MeSH
- Cysts MeSH
- Diagnosis, Differential MeSH
- Humans MeSH
- Neoplasm Metastasis MeSH
- Head and Neck Neoplasms * diagnostic imaging diet therapy pathology therapy MeSH
- Neoplasms, Unknown Primary MeSH
- Disease Progression MeSH
- Aged, 80 and over MeSH
- Carcinoma, Squamous Cell diagnostic imaging pathology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Publication type
- Case Reports MeSH
Branchiogenní cysta nosohltanu je vzácné onemocnění vznikající nejčastěji ze druhé žaberní štěrbiny. Může být asymptomatická nebo se projevovat příznaky tubární insuficence, pocity plnosti v uchu, dyskomfortem či postnazálním zatékáním sekretu. Diagnostika je založena na typické lokalizaci, zobrazovacím vyšetření a histopatologickém obraze. Léčba tohoto onemocnění spočívá v chirurgické exstirpaci či marsupializaci cysty, přičemž zevní přístupy jsou dnes nahrazovány trans-orální a transnazální endoskopickou marsupializací.
Deep neck infection is an infection in the neck area and Nasopharyngeal branchial cysts are rare disease arising mostly from the second branchial cleft. The cysts can be asymptomatic or show symptoms of tubal insufficiency, fullness of the ear discomfort or postnasal drip. Diagnosis is established on typical localization, imaging and histopathology. The treatment involves surgical extirpation or marsupialization of the cyst, wherein the external approaches are now being replaced by transoral or transnasal endoscopic marsupialization.
- Keywords
- cysty nosohltanu, transnazální přístup, žaberní štěrbiny, marsupializace,
- MeSH
- Branchioma * diagnosis surgery pathology MeSH
- Endoscopy MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Head and Neck Neoplasms diagnosis surgery pathology MeSH
- Nasopharyngeal Diseases * diagnosis surgery pathology MeSH
- Nasal Cavity surgery MeSH
- Otorhinolaryngologic Surgical Procedures * methods MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Lymphangiomas are uncommon lesions of lymphatic channels that are often present at birth and diagnosed mostly (90%) before the age of two years. Lymphangiomas occur exceedingly rarely in adults and few cases are described in the literature. The treatment of choice is complete surgical removal; however, the tumor tends to spread along vital structures therefore sometimes inductive complete surgical removal is impossible. We describe the clinical and pathological features of cystic lymphangioma diagnosed in three adults with lateral neck mass. Clinical examination, ultrasonography, MRI and fine-needle aspiration cytology were performed. We discuss the diagnostic difficulties of this uncommon lesion where in many cases the correct diagnosis is reached only after histopathological investigation of the surgical specimen. Therapeutic options are briefly described. Our cases suggest the need to consider cystic lymphangioma in the differential diagnosis of lateral neck masses in adults, together with adequate imaging and cytological studies to corroborate the preoperative diagnosis.
- MeSH
- Branchioma diagnosis MeSH
- Diagnostic Imaging MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Financing, Organized MeSH
- Neck Muscles surgery pathology MeSH
- Humans MeSH
- Neoplasm Recurrence, Local diagnosis surgery pathology MeSH
- Lymphangioma, Cystic diagnosis surgery pathology MeSH
- Lymphangioma diagnosis surgery pathology MeSH
- Head and Neck Neoplasms diagnosis MeSH
- Reoperation MeSH
- Biopsy, Fine-Needle MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Presented herein is the case of a 65-year-old man with a 20 year history of thyroid hypofunction. On sonography a cystic lesion 4 x 4 x 5 cm in largest diameter was found, replacing most of the right lobe of the thyroid gland. Microscopically, the lesion was composed of labyrinth-like cystic structures (LCS) lined by a few layers of benign-appearing squamous cells and filled by mucinous material. Adjacent to the cyst walls were discontinuous patches of a lymphoid tissue, composed of haloed centrocyte-like cells or germinal centers mostly depleted of germinal cells. Additionally, there were numerous squamous cell nests equivalent to solid cell nests (SCN), all of which were surrounded by a similar-looking lymphoid tissue. Rare SCN were thus cystically changed and contained a small amount of mucus. The SCN communicated with the LCS: the former represented the most distal outpouchings of the latter. The epithelial structures were surrounded by a loose collagenous adipocytic stroma with plump fibroblasts, which resembled the stroma often seen in lateral neck cysts associated with structures such as cartilage, accessory salivary gland tissues, cysts and accessory thyroid and thymus. Immunohistochemically, all lesional elements were negative for calcitonin and thyroglobulin. The results of the paper suggest that branchial cleft-like cyst have an origin in the ultimobranchial body.
- MeSH
- Branchioma pathology MeSH
- Cysts pathology ultrasonography MeSH
- Immunohistochemistry MeSH
- Humans MeSH
- Thyroid Neoplasms pathology MeSH
- Thyroid Diseases pathology ultrasonography MeSH
- Aged MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Case Reports MeSH
U 541etého muže byla jištěna cystická rezistence na laterálni straně krku, která klinicky i histologicky věrně připomínala laterálni krční cystu branchiogenního původu. Její stěna tvořená lymfatickou tkání byla lemována vícevrstevným dlaždicobuněčným epitelem, místy zralého charakteru, který však měl jinde zřetelné dysplastické rysy s přechodem do struktur dlaždicobuněčného karcinomu in situ, místy byla prokázána i invaze nádoru do lymfatické tkáně. Obraz tedy odpovídal tzv. maligní branchiogenní cystě. Další klinická vyšetření však odhalila okultní karcinom ipsilaterální patrové tonzily, ložisko na krku bylo tedy cystickou metastázou. Diskutována je problematika diagnostických kritérií, za kterých lze stanovit diagnózu primární malignity v branchiogenní cystě.
A case of a cystic metastasis of squamous cell carcinoma of palatine tonsil in a 54-year-old male is reported, clinically presenting as a branchiogenic cyst. The grade of differentiation of the squa11 epithelium lining the cyst was very variable: in some areas it was extremely well differentiated, thus resembling common benign branchial cleft cyst; transition to dysplastic areas with features of carcinoma in situ was visible and finally, in one small focus, invasion of the epithelial structures into the lymphoid tissue was observed. Despite its metastatic nature, the tumor fulfilled histological criteria of a so called malignant branchiogenic cyst (branchiogenic carcinoma). The authors discuss the existence of primary malignant branchiogenic cyst and the criteria necessary for its diagnosis.
- MeSH
- Branchioma diagnosis etiology pathology MeSH
- Diagnosis, Differential MeSH
- Humans MeSH
- Lymphatic Metastasis MeSH
- Head and Neck Neoplasms MeSH
- Tonsillar Neoplasms diagnosis pathology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Branchioma epidemiology surgery MeSH
- Carcinoma epidemiology surgery MeSH
- Humans MeSH
- Head and Neck Neoplasms epidemiology surgery MeSH
- Neoplasms, Unknown Primary epidemiology surgery MeSH
- Check Tag
- Humans MeSH
- Geographicals
- Germany MeSH
