RESUMEN
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.
Asunto(s)
Branquioma/genética , Branquioma/patología , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/patología , Proteínas Proto-Oncogénicas p21(ras)/genética , Anciano , Coristoma , Femenino , Hamartoma/patología , Humanos , Masculino , Persona de Mediana Edad , Mutación , Timo , Neoplasias del Timo/patologíaRESUMEN
Although the physiological relevance of retinoids and steroids in vertebrates is very well established, the origin and evolution of the genetic machineries implicated in their metabolic pathways is still very poorly understood. We investigated the evolution of these genetic networks by conducting an exhaustive survey of components of the retinoid and steroid pathways in the genome of the invertebrate chordate amphioxus (Branchiostoma floridae). Due to its phylogenetic position at the base of chordates, amphioxus is a very useful model to identify and study chordate versus vertebrate innovations, both on a morphological and a genomic level. We have characterized more than 220 amphioxus genes evolutionarily related to vertebrate components of the retinoid and steroid pathways and found that, globally, amphioxus has orthologs of most of the vertebrate components of these two pathways, with some very important exceptions. For example, we failed to identify a vertebrate-like machinery for retinoid storage, transport, and delivery in amphioxus and were also unable to characterize components of the adrenal steroid pathway in this invertebrate chordate. The absence of these genes from the amphioxus genome suggests that both an elaboration and a refinement of the retinoid and steroid pathways took place at the base of the vertebrate lineage. In stark contrast, we also identified massive amplifications in some amphioxus gene families, most extensively in the short-chain dehydrogenase/reductase superfamily, which, based on phylogenetic and genomic linkage analyses, were likely the result of duplications specific to the amphioxus lineage. In sum, this detailed characterization of genes implicated in retinoid and steroid signaling in amphioxus allows us not only to reconstruct an outline of these pathways in the ancestral chordate but also to discuss functional innovations in retinoid homeostasis and steroid-dependent regulation in both cephalochordate and vertebrate evolution.
Asunto(s)
Branquioma/genética , Retinoides/fisiología , Esteroides/fisiología , Vertebrados/genética , Animales , Evolución Biológica , Cordados no Vertebrados/genética , Cordados no Vertebrados/metabolismo , Evolución Molecular , Duplicación de Gen , Componentes Genómicos , Redes y Vías Metabólicas , Filogenia , Transducción de Señal , Vertebrados/metabolismoRESUMEN
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems. We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele. These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.
Asunto(s)
Síndrome del Nevo Basocelular/diagnóstico , Branquioma/diagnóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Cuero Cabelludo , Neoplasias Cutáneas/diagnóstico , Síndrome del Nevo Basocelular/genética , Síndrome del Nevo Basocelular/patología , Branquioma/genética , Branquioma/patología , Niño , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/patología , Humanos , Masculino , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patologíaRESUMEN
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney.
Asunto(s)
Anomalías Múltiples/genética , Síndrome Branquio Oto Renal/genética , Branquioma/genética , Sordera/genética , Adulto , Síndrome Branquio Oto Renal/complicaciones , Branquioma/complicaciones , Sordera/complicaciones , Sordera/diagnóstico , Sordera/terapia , Diagnóstico Diferencial , Oído/anomalías , Humanos , Riñón/anomalías , MasculinoRESUMEN
OBJECTIVE: Frequently, the distinction between branchial cleft cyst and cystic metastases from squamous cell carcinoma is difficult by cytomorphology. In a prospective study, we investigated the need for, and the value of, image cytometry DNA-analysis as a complement to cytologic evaluation of cystic lesions in the neck. STUDY DESIGN: Image cytometry DNA-analysis was performed on the fine needle aspiration cytology smears from 50 patients, referred to our department, with a solitary cystic lesion in the lateral region of the neck. METHODS: Smears from aspirates were Giemsa stained and cytologically evaluated. Ahrens image analysis was used for DNA analysis on smears stained with Schiff reagent, and lymphocytes were used as control cells. Epithelial cells with DNA values exceeding 5c were regarded as aneuploid, indicating malignancy. RESULTS: Nine lesions were diagnosed as squamous cell cancer metastases cytologically. DNA analysis showed aneuploidy in all of them except one. Three of these lesions had earlier been diagnosed as branchial cleft cyst at the referring hospital. Eight lesions were cytologically inconclusive and four of them were revealed as cystic metastasis at histopathologic analysis, and DNA analysis showed aneuploidy in all but one, which could not be analyzed. Two of these lesions were also diagnosed as branchial cleft cysts at the referring hospital. All benign lesions were diploid. Nine lesions were thyroid and salivary gland lesions. CONCLUSION: Image cytometry DNA-analysis was shown to help in the distinction between benign and malignant cystic lesions. Thus, when conventional cytomorphology does not suffice, DNA-analysis is clearly a valuable supplement.
Asunto(s)
Branquioma/patología , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/secundario , ADN de Neoplasias/análisis , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/secundario , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja , Branquioma/genética , Diagnóstico Diferencial , Femenino , Neoplasias de Cabeza y Cuello/genética , Humanos , Citometría de Imagen , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
Presentamos un caso clínico de displasia oculoauriculovertebral o síndrome de Goldenhar en una paciente femenina de 26 años con múltiples anomalías congénitas y la presencia de quiste branquial y glaucoma primario de ángulo abierto. Mediante un estudio multidisciplinario, clínico, genético, imagenológico y con pruebas psicofísicas, se ponen en evidencia diversas anomalías craneofaciales, óseas y de vísceras toracoabdominales presentes en una misma paciente. Se señalan las diferentes deformidades que conforman actualmente un amplio espectro de anomalías, según la literatura revisada, así como las características clínicas, tratamiento y su evolución. El quiste branquial resulta un hallazgo novedoso que bien puede explicarse en este tipo de alteraciones morfogenéticas, sin embargo, el glaucoma parece ser una entidad casual. Se descartan otras anomalías oculares propias del Goldenhar que pueden ocasionar glaucoma. Se comenta la importancia del diagnóstico y tratamiento multidisciplinario, así como el riesgo quirúrgico de estos enfermos
Asunto(s)
INFORME DE CASO , Humanos , Femenino , Adulto , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/genética , Glaucoma de Ángulo Abierto , Branquioma/genética , Anomalías Múltiples , Manifestaciones OcularesRESUMEN
The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.
Asunto(s)
Anomalías Múltiples/genética , Atresia Biliar/genética , Branquioma/genética , Síndrome de Goldenhar/genética , Neoplasias de Cabeza y Cuello/genética , Cardiopatías Congénitas/genética , Anomalías Múltiples/diagnóstico , Atresia Biliar/diagnóstico , Branquioma/diagnóstico , Diagnóstico Diferencial , Femenino , Asesoramiento Genético , Síndrome de Goldenhar/diagnóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Cardiopatías Congénitas/diagnóstico , Humanos , LactanteRESUMEN
Duplication of distal 15q results in a recognizable clinical phenotype. We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomalies, velopharyngeal insufficiency, branchial cleft cyst, and hydronephrosis. Fluorescence in situ hybridization (FISH) using a chromosome 15 painting probe confirmed that the extra material is of chromosome 15 origin. Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/Angelman syndrome critical region. This case delineates a broader spectrum for patients with duplication 15q syndrome.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 15 , Duplicación de Gen , Branquioma/genética , Bandeo Cromosómico , Facies , Humanos , Hidronefrosis/genética , Hibridación Fluorescente in Situ , Recién Nacido , Masculino , Fenotipo , Síndrome , Insuficiencia Velofaríngea/genéticaRESUMEN
Branchio-oto-renal syndrome is an inborn disease of autosomal dominant transmission and variable expression. The syndrome associates ear pits, branchial cleft fistulas or cysts, deafness and renal anomalies heavily compromising prognosis. We report four adults (2 males, 2 females) in three different families with branchio-oto-renal syndrome. All 4 probands were seen for renal failure, with hematuria in 2 and proteinuria in the 2 others. Among the 62 family members examined 19 had at least one sign of branchio-oto-renal syndrome. Four pregnancies were followed during the course of the study, only one reached term. The frequency of branchio-oto-renal syndrome is probably underestimated. Prevalence has been estimated at 1/40,000 births. It accounts for 2% of the cases of severe deafness in children. Neck and ear morphology should therefore be carefully examined in patients with renal or urinary tract dysplasia. Women with a mild form of the disease with moderate renal failure may give birth to an infant with very severe renal failure leading to death either in infancy or in utero due to severe renal agenesia or hypoplasia.
Asunto(s)
Branquioma/complicaciones , Sordera/complicaciones , Neoplasias de Cabeza y Cuello/complicaciones , Riñón/anomalías , Insuficiencia Renal/complicaciones , Adulto , Branquioma/genética , Sordera/genética , Femenino , Neoplasias de Cabeza y Cuello/genética , Humanos , Enfermedades Renales/complicaciones , Enfermedades Renales/genética , Masculino , Pronóstico , Insuficiencia Renal/genética , SíndromeRESUMEN
It is well known that the persistence of alterations in the normal embryological development of branchial arches can lead to preauricular and cervical fistulas within a family. However, until 1970, there were no reports of dysplasia affecting the branchial, otic, and renal systems (BOR syndrome) with dominant autosomic inheritance. The authors report on a family with BOR syndrome of different expressivity in three generations, and describe an unusual case of bilateral fistulas of the first and second branchial arches in a newborn.
Asunto(s)
Anomalías Múltiples/genética , Branquioma/genética , Oído/anomalías , Genes Dominantes , Neoplasias de Cabeza y Cuello/genética , Riñón/anomalías , Branquioma/epidemiología , Sordera/genética , Femenino , Neoplasias de Cabeza y Cuello/epidemiología , Humanos , Incidencia , Recién Nacido , Masculino , Linaje , SíndromeRESUMEN
A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene.
Asunto(s)
Branquioma/genética , Neoplasias de Cabeza y Cuello/genética , Adulto , Preescolar , Fisura del Paladar/genética , Conjuntivitis/genética , Oído Externo/anomalías , Genes Dominantes , Trastornos de la Audición/genética , Humanos , Inteligencia , Obstrucción del Conducto Lagrimal/genética , Masculino , Microftalmía/genética , SíndromeRESUMEN
The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia. We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.
Asunto(s)
Branquioma/genética , Oído Externo/anomalías , Riñón/anomalías , Anomalías Múltiples/genética , Adulto , Anciano , Niño , Femenino , Trastornos de la Audición/genética , Humanos , Lactante , Masculino , Persona de Mediana Edad , SíndromeRESUMEN
Heterotopic cervical salivary gland tissue was found in a 4-yr-old girl with branchial and otologic abnormalities. Her mother and sister also had heterotopic cervical salivary tissue in association with anomalies that suggest the branchio-otorenal (BOR) syndrome. Heterotopic cervical salivary gland tissue may result from abnormal branchial development.
Asunto(s)
Branquioma/genética , Coristoma/genética , Oído Externo/anomalías , Neoplasias de Cabeza y Cuello/genética , Riñón/anomalías , Glándulas Salivales , Adulto , Branquioma/patología , Niño , Preescolar , Coristoma/patología , Femenino , Neoplasias de Cabeza y Cuello/patología , Humanos , Glándulas Salivales/patología , SíndromeRESUMEN
The earpits-deafness syndrome is a rare autosomal dominant condition. This report documents 4 families and describes the characteristic radiological features of both the inner and the middle-ear lesions. Prospects for surgical intervention are discussed.
Asunto(s)
Branquioma/genética , Neoplasias de Cabeza y Cuello/genética , Pérdida Auditiva Bilateral/genética , Pérdida Auditiva/genética , Anomalías Múltiples/genética , Adulto , Oído/anomalías , Oído/diagnóstico por imagen , Oído/cirugía , Femenino , Pérdida Auditiva Bilateral/diagnóstico por imagen , Pérdida Auditiva Bilateral/cirugía , Humanos , Lactante , Masculino , Linaje , Radiografía , SíndromeRESUMEN
Branchio-oto-renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, branchial cleft cysts, deafness and renal anomalies, which is inherited as an autosomal dominant trait. This report describes a father and 2 children with BOR syndrome in which gustatory lacrimation (GL) was also present in 2 of them. GL is considered to be a rare, non-hereditary type of anomalous, cranial nerve-end organ innervation. Since lacrimal stenosis, which can clinically mimic GL, is also a feature of the BOR syndrome, future reports require lacrimal reflex testing and duct patency evaluation to define this variation in the BOR phenotype.
Asunto(s)
Branquioma/genética , Sordera/genética , Neoplasias de Cabeza y Cuello/genética , Riñón/anomalías , Gusto , Lágrimas/metabolismo , Adulto , Preescolar , Ingestión de Alimentos , Femenino , Genes Dominantes , Humanos , Masculino , Fenotipo , SíndromeRESUMEN
Intravenous urography and measurements of renal function were performed in 16 patients suffering from branchio-oto-renal syndrome. Malformations were visible by intravenous urography in all patients. Four out of 16 patients had a diminished glomerular filtration rate. Renal histology available in two patients revealed oligomeganephronic renal hypoplasia and multicystic dysplasia, respectively. Without renal agenesis or severe renal hypoplasia or dysplasia present in early infancy, renal abnormality does not seem to be a progressive disorder.
Asunto(s)
Anomalías Múltiples/genética , Oído Externo/anomalías , Riñón/anomalías , Adolescente , Adulto , Branquioma/complicaciones , Branquioma/genética , Creatinina/sangre , Femenino , Tasa de Filtración Glomerular , Trastornos de la Audición/complicaciones , Trastornos de la Audición/genética , Humanos , Riñón/diagnóstico por imagen , Riñón/fisiopatología , Masculino , Persona de Mediana Edad , RadiografíaRESUMEN
A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.
Asunto(s)
Branquioma/genética , Aberraciones Cromosómicas/genética , Oído/anomalías , Trastornos de la Audición/genética , Riñón/anomalías , Adulto , Niño , Trastornos de los Cromosomas , Femenino , Genes Dominantes , Humanos , Recién Nacido , Masculino , Persona de Mediana Edad , Linaje , SíndromeRESUMEN
A family with multiple tumors is presented. Four cases were childhood neoplasms derived from the neuroectoderm, as was a malignant melanoma in a young female and a branchiogenic cyst in her brother. He also had an early onset of an adenocarcinoma of the transverse colon. Four further cases of gastrointestinal tumors and one case of acute myelogenous leukemia had occurred in the family. One of the childhood tumors was a bilateral retinoblastoma. It is discussed as to whether the tumors in the studied family were due to a genetic factor resulting in a neuroectodermal embryopathy, or were caused by a retinoblastoma gene with a pleiotropic effect.
Asunto(s)
Ectodermo , Enfermedades Fetales/genética , Neoplasias Gastrointestinales/genética , Adulto , Anciano , Branquioma/genética , Niño , Dinamarca , Femenino , Asesoramiento Genético , Neoplasias de Cabeza y Cuello/genética , Humanos , Lactante , Masculino , Melanoma/genética , Persona de Mediana Edad , Cresta Neural , Neuroblastoma/genética , Linaje , Embarazo , Retinoblastoma/genéticaRESUMEN
We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.