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1.
Am J Clin Pathol ; 156(2): 313-319, 2021 07 06.
Artículo en Inglés | MEDLINE | ID: mdl-33609098

RESUMEN

OBJECTIVES: Mucinous adenocarcinoma arising in unresected congenital pulmonary airway malformation (CPAM) is rare. Underlying driver mutations in addition to KRAS gain-of-function mutations in this setting and the long-term outcomes of these patients are unknown. METHODS: We report a case of metastatic mucinous adenocarcinoma harboring both KRAS and GNAS mutations arising in a type 1 CPAM of a 14-year-old male. A literature review was performed. RESULTS: Next-generation sequencing revealed identical KRAS (G12V) mutations in both the CPAM and metastatic adenocarcinoma and a missense mutation in the GNAS (R201C) gene in the metastatic adenocarcinoma only. Median survival was 23 and 4 years for patients with localized (no or limited spread within the same lobe of CPAM) and distant involvement (spread to any different lobe of CPAM) of mucinous cells, respectively (95% confidence interval, 23-23 and 1.5-22 years, respectively; P = .017). CONCLUSIONS: Mucinous cell proliferation associated with type 1 CPAM has exceptionally good long-term outcomes if confined within the same lobe of CPAM. A second oncogenic mutation in the GNAS gene may be necessary for progression to malignancy and distant spread.


Asunto(s)
Adenocarcinoma Mucinoso/patología , Cromograninas/genética , Malformación Adenomatoide Quística Congénita del Pulmón/patología , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Neoplasias Pulmonares/patología , Proteínas Proto-Oncogénicas p21(ras)/genética , Adenocarcinoma del Pulmón/genética , Adenocarcinoma del Pulmón/patología , Adenocarcinoma Mucinoso/genética , Adolescente , Malformación Adenomatoide Quística Congénita del Pulmón/genética , Humanos , Neoplasias Pulmonares/genética , Masculino , Mutación
2.
J Pediatr ; 176: 69-78.e1, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27373756

RESUMEN

OBJECTIVE: To compare the differences of immunological characteristics between newborn and adults, we performed high-throughput sequencing to reveal the diversity of umbilical cord blood and adult peripheral blood at both T-cell receptor beta chain (TRB) and immunoglobulin heavy chain (IGH) levels. STUDY DESIGN: High-throughput sequencing was performed to analyze the expression of TRB-CDR3 and IGH-CDR3 in circulating T and B cells isolated from 20 healthy adults, 56 pregnant women, and 40 newborns. RESULTS: Our results revealed different immunological characteristics between newborn and adults, such as distinctive complementarity determining region 3 (CDR3) lengths, usage bias of variable and joining segments, random nucleotide addition, a large number of unique CDR3 peptides, and a greater repertoire diversity. Moreover, each newborn had a distinctive TRB-/IGH-CDR3 repertoire that was independent of the maternal immune status. CONCLUSIONS: This study presents comprehensive, unrestricted profiles of the TRB/IGH-CDR3 repertoire of newborns, pregnant women, and healthy adults at a sequence-level resolution. Our data may contribute to a better understanding of the immune system of newborns and benefit the efficient application of umbilical cord blood transplantation in future.


Asunto(s)
Regiones Determinantes de Complementariedad/genética , Regiones Determinantes de Complementariedad/inmunología , Sangre Fetal , Secuenciación de Nucleótidos de Alto Rendimiento , Cadenas Pesadas de Inmunoglobulina/genética , Cadenas Pesadas de Inmunoglobulina/inmunología , Receptores de Antígenos de Linfocitos T alfa-beta/genética , Receptores de Antígenos de Linfocitos T alfa-beta/inmunología , Análisis de Secuencia de ADN , Adulto , Regiones Determinantes de Complementariedad/sangre , Femenino , Humanos , Cadenas Pesadas de Inmunoglobulina/sangre , Recién Nacido , Embarazo , Receptores de Antígenos de Linfocitos T alfa-beta/sangre
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