RESUMEN
This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay.
Asunto(s)
Trastornos de los Cromosomas , Labio Leporino , Fisura del Paladar , Cromosomas en Anillo , Masculino , Humanos , Preescolar , Labio Leporino/genética , Labio Leporino/cirugía , Fisura del Paladar/genética , Fisura del Paladar/cirugía , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 7RESUMEN
Ring chromosomes are uncommon in hematological diseases. Here we present the case of a 13-year-old girl with leukocytosis, anemia, and lymphadenopathy. Flow cytometry analysis revealed a predominant precursor T lymphoid population expressing CD7, CD5, CD2, and cytoplasmic CD3 with partial expression of CD33, CD34, CD117, and CD11c; TdT was positive, and myeloperoxidase was negative. The bone marrow aspirate showed markedly increased blasts that were positive for CD3, CD7, CD34, TdT, and myeloperoxidase (rare positivity) by immunohistochemistry stain, consistent with T-cell acute lymphoblastic leukemia (T-ALL) extensively involving a hypercellular marrow for age. The karyotype showed a ring 7 in 12 of the 21 metaphase cells examined and deletions of the subtelomeric regions on chromosome 7. Deletions in the short arm of chromosome 7 and the long arm of chromosome 7 are present in 2% to 4% of pediatric T-ALL cases. Ring chromosome 7 is typically seen in myeloid malignancies, including acute myeloid leukemia.
RESUMEN
Patients with non-supernumerary ring chromosome 7 syndrome have an increased incidence of hemangiomas, café-au-lait spots, and melanocytic nevi. The mechanism for the increased incidence of these benign neoplasms is unknown. We present the case of a 22-year-old man with ring chromosome 7 and multiple melanocytic nevi. Two nevi, one on the right ear and the other on the right knee, were biopsied and diagnosed as desmoplastic Spitz nevi. Upon targeted next-generation DNA sequencing, both harbored BRAF fusions. Copy number alterations and fluorescence in situ hybridization (FISH) for BRAF suggested that the fusions arose on the ring chromosome 7. Hence, one reason for increased numbers of nevi in patients with non-supernumerary ring chromosome 7 syndrome may be increased likelihood of BRAF fusions, due to the instability of the ring chromosome.
Asunto(s)
Trastornos de los Cromosomas , Neoplasias del Oído , Nevo de Células Epitelioides y Fusiformes , Proteínas de Fusión Oncogénica , Proteínas Proto-Oncogénicas B-raf , Cromosomas en Anillo , Neoplasias Cutáneas , Adulto , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/metabolismo , Cromosomas Humanos Par 7/genética , Cromosomas Humanos Par 7/metabolismo , Cromosomas Humanos Par 7/fisiología , Neoplasias del Oído/genética , Neoplasias del Oído/metabolismo , Neoplasias del Oído/patología , Humanos , Masculino , Nevo de Células Epitelioides y Fusiformes/genética , Nevo de Células Epitelioides y Fusiformes/metabolismo , Nevo de Células Epitelioides y Fusiformes/patología , Proteínas de Fusión Oncogénica/genética , Proteínas de Fusión Oncogénica/metabolismo , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas B-raf/metabolismo , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patologíaAsunto(s)
Transformación Celular Neoplásica/genética , Deleción Cromosómica , Cromosomas Humanos Par 7/ultraestructura , Eliminación de Gen , Leucemia Mieloide Aguda/etiología , Linfoma Folicular/terapia , Linfoma de Células del Manto/terapia , Síndromes Mielodisplásicos/etiología , Neoplasias Primarias Secundarias/etiología , Trasplante de Células Madre de Sangre Periférica , Cromosomas en Anillo , Aloinjertos , Anticuerpos Monoclonales/administración & dosificación , Anticuerpos Monoclonales de Origen Murino/administración & dosificación , Biomarcadores de Tumor , Médula Ósea/patología , Cromosomas Humanos Par 7/genética , Ciclofosfamida/administración & dosificación , Progresión de la Enfermedad , Femenino , Humanos , Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , Donadores Vivos , Linfoma Folicular/tratamiento farmacológico , Linfoma de Células del Manto/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/patología , Neoplasias Primarias Secundarias/patología , Proteínas Proto-Oncogénicas c-ets/deficiencia , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas Represoras/deficiencia , Proteínas Represoras/genética , Rituximab , Quimera por Trasplante/genética , Vidarabina/administración & dosificación , Vidarabina/análogos & derivados , Proteína ETS de Variante de Translocación 6RESUMEN
We present the literature review of ring chromosome 7 and clinical, cytogenetic and fine molecular mapping of the first postnatal report of a male child with a non-supernumerary ring chromosome 7, r(7). The patient had dysmorphic features, developmental delay, dermatologic lesions with variable pigmentation, hypogenitalism, lumbar dextroscoliosis, cerebellar and ophthalmological abnormalities, and melanocytic congenital nevi. Cytogenetic analysis of peripheral blood and the nevus sample showed the presence of three different cell lines r(7), monosomy 7, and duplicated r(7) (idic r(7)), while findings on fibroblasts from both light and dark skin showed only mosaicism with r(7) and monosomy 7 cell lines in various proportions. FISH assay of the ring chromosome showed subtelomeric loss in both chromosome arms in all tissues studied. Analysis by genome-wide single-nucleotide polymorphism array showed a 0.8 Mb deletion in 7p22.3 (involving eight genes) and a 7.5 Mb deletion in 7q36 (involving 29 genes including some involved in genital and central nervous system development). The combination of results from our karyotypic and array analyses enabled us to establish an accurate genotype-phenotype relationship.