RESUMO
We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and IGH::MYC rearrangement by FISH. Next generation sequencing revealed deleterious TP53 and MYC mutations. We concluded that both could be diagnosed as "DLBCL-NOS with MYC rearrangement" using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World Health Organization Classifications of Haematolymphoid Tumors (WHO-HAEM5). This report illustrates diagnostic challenges and treatment dilemmas that may be encountered, particularly for adolescent and young adults (AYA).
Assuntos
Linfoma de Burkitt , Linfoma Difuso de Grandes Células B , Proteínas Proto-Oncogênicas c-bcl-2 , Translocação Genética , Humanos , Linfoma de Burkitt/genética , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/patologia , Linfoma de Burkitt/metabolismo , Linfoma de Burkitt/terapia , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/terapia , Linfoma Difuso de Grandes Células B/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Adolescente , Masculino , Criança , Feminino , Diagnóstico Diferencial , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Cromossomos Humanos Par 14/genética , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/genética , Cromossomos Humanos Par 8/genéticaRESUMO
Primary gastric Burkitt's lymphoma (BL) is rare in the pediatric population. Furthermore, the association of Burkitt's lymphoma with Helicobacter pylori is not well defined. We report a case of primary gastric Burkitt's lymphoma associated with Helicobacter pylori diagnosed in a pediatric patient. This diagnosis was made with the aid of endoscopic ultrasound (EUS)-guided fine-needle biopsy (FNB). This is one of the first pediatric cases of EUS-guided FNB for the diagnosis of H. pylori-associated gastric BL.
Assuntos
Linfoma de Burkitt , Infecções por Helicobacter , Helicobacter pylori , Neoplasias Gástricas , Adolescente , Linfoma de Burkitt/diagnóstico por imagem , Linfoma de Burkitt/microbiologia , Feminino , Infecções por Helicobacter/complicações , Humanos , Neoplasias Gástricas/diagnóstico por imagem , Neoplasias Gástricas/microbiologia , Ultrassonografia de IntervençãoRESUMO
Cerebral cavernous malformation 3 (CCM3) is a vascular malformation disorder causing brain slow-flow vascular parenchymal lesions. These lesions are the result of variants in the Programmed Cell Death Protein 10 (PDCD10) gene, located on 3q26.1. We report an 8-month-old patient who was presented with seizures and intracranial abscesses and was found to have a variant of PDCD10 on whole exome sequencing, representing, to our knowledge, the youngest case of CCM3 described in the literature. Her clinical course was complicated by the development of neutropenia, requiring granulocyte colony-stimulating factor, and thrombocytopenia, requiring intermittent platelet transfusions, with later development of B acute lymphoblastic leukemia 2 years after initial presentation. This case represents the first description in the literature of hematologic complications in the setting of CCM3. We hypothesize that these hematological manifestations are the result of alterations in the actin and microtubule cytoskeleton, affecting the process of hematopoiesis in a similar fashion to the documented effect of the PDCD10 variant on neuronal migration.