RESUMEN
Immune thrombocytopenic purpura (ITP) is a rare hematologic condition through to affect 3.3 in 100,000 adults per year in the United States. Many cases of immune thrombocytopenia are diagnosed incidentally with laboratory tests that reveal low platelet count, without a clear cause. However, when platelet counts are very low, patients may show signs of bleeding. Here we present the case of a 24-year-old female with mucocutaneous bleeding ten days after receiving her first dose of SARS-CoV-2 vaccine, who was subsequently found to have severe thrombocytopenia. Extensive work up for new thrombocytopenia was unremarkable suggesting a diagnosis of ITP, potentially secondary to vaccination. Empiric treatment with glucocorticoids was initiated without response prompting the use of intravenous immunoglobulin G. The patient was discharged on hospital day five with a platelet count over 20,000 platelets per microliter. In summary, ITP is a potential sequela of the SARS-CoV-2 vaccine, and otherwise healthy young individuals may be at risk for hematologic side effects.
RESUMEN
The eighth edition of American Joint Committee on Cancer (AJCC) advocates a 3-tier grading system for appendiceal mucinous tumors. The mutational profile for each tumor grade and the impact of TP53 mutation on survival are unknown. We classified appendiceal mucinous tumors into 3 grades based on the eighth edition of American Joint Committee on Cancer: 21 G1 low-grade mucinous neoplasms, 21 G2 appendiceal adenocarcinomas, and 26 G3 signet ring cell carcinomas. Mutation profiles were obtained using next-generation sequencing. The impact of TP53 on prognosis was investigated by multivariable analysis. Most G1 tumors harbor KRAS/GNAS mutations with TP53 and SMAD4 in a small subset of cases. G2 and G3 tumors show a more complex mutation pattern carrying PIK3CA, BRAF, or TP53 mutations in addition to KRAS/GNAS. PTEN mutations were detected exclusively in G2 tumors. The prevalence of KRAS and GNAS mutations is significantly lower in G3 tumors relative to G1/G2, whereas TP53, PIK3CA, or BRAF mutations are common. Mutations in NRAS, IDH2, CDH1, RB1, CTNNB1, CDKN2A, PTPN11, and KIT genes were observed in single cases. Patients with TP53-mutated disseminated G2 and G3 tumors had worse progression-free survival than did those with wild-type TP53 tumors (P = .0315). A trend toward worse overall survival was observed in TP53-mutated G3 tumors (P = .102). p53 expression correlated with mutation status. We demonstrate a distinct but overlapping pattern of gene mutations in each grade of appendiceal mucinous tumors and the independent impact of TP53 mutation on progression-free survival but not overall survival.
Asunto(s)
Adenocarcinoma Mucinoso/genética , Neoplasias del Apéndice/genética , Mutación , Proteína p53 Supresora de Tumor/genética , Adenocarcinoma Mucinoso/mortalidad , Adenocarcinoma Mucinoso/patología , Adulto , Anciano , Neoplasias del Apéndice/mortalidad , Neoplasias del Apéndice/patología , Biomarcadores de Tumor , Fosfatidilinositol 3-Quinasa Clase I/genética , Análisis Mutacional de ADN , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Pronóstico , Proteínas Proto-Oncogénicas p21(ras)/genética , Tasa de Supervivencia , beta Catenina/genéticaRESUMEN
Microangipathic hemolytic anemia (MAHA) is a serious diagnosis and difficult to manage in pregnant patients as multiple life threatening conditions could present with MAHA. ADAMTS13 enzyme activity can be affected during pregnancy with multiple factors. A persistent extremely low ADAMTS13 enzyme activity levels, without an inhibitor, after the delivery was an important factor to establish the diagnosis. We present a case of likely congenital ADAMST13 deficiency that manifested for the first time in a pregnant woman at week 37 of pregnancy.
Asunto(s)
Anemia Hemolítica/diagnóstico , Púrpura Trombocitopénica Trombótica/complicaciones , Adulto , Anemia Hemolítica/patología , Femenino , Humanos , Embarazo , Púrpura Trombocitopénica Trombótica/patologíaRESUMEN
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening clinical syndrome characterized by dysregulation of the immune system. Impaired function of cytotoxic T cells and natural killer cells is often seen, and T-cell malignancies represent most cases of lymphoma-associated HLH. HLH associated with B-cell lymphoma is rare. We describe a case of a 30-year-old man who presented with fever, splenomegaly, and hyperferritinemia. Bone marrow biopsy revealed T-cell/histiocyte-rich large B-cell lymphoma, a rare, aggressive B-cell malignancy. This case highlights the interplay between a pro-inflammatory cytokine microenvironment and tumor-mediated immune suppression, and addresses the importance of accurately diagnosing these entities for appropriate clinical management.
