EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas.

Primary mediastinal (thymic) large B-cell lymphoma (PMBL) is described as almost always negative for Epstein-Barr virus (EBV). In the context of a mediastinal lymphoma, the distinction between PMBL, classical Hodgkin lymphoma, diffuse large B-cell lymphoma, and mediastinal gray-zone lymphoma can be very difficult; hence, EBV positivity often argues against PMBL. We present a 19-year-old man with mediastinal mass morphologically consistent with PMBL. The tumor expressed classic immunophenotype, including positivity for CD20, CD19, MAL, OCT2, BOB1, BCL6, CD79a, and subset positivity for CD30. However, the tumor was EBV-positive by in situ hybridization. Next-generation sequencing detected somatic mutations in XPO1 (E571K), SMARCB1 (L356fs), and MYCC (T73A). Although the immunophenotype and XPO1 mutation are characteristic of PMBL, EBV expression is uncommon. Since EBV positivity can occur in rare PMBLs, it should not be the deciding factor in the diagnosis. This is the first EBV-positive PMBL in which mutational profiling has been reported. Aside from providing diagnostic support, the finding of the XPO1 E571K mutation may suggest a targeted therapeutic option.

Current therapies in primary immune thrombocytopenia.

Immune thrombocytopenia (ITP) has long been characterized as an autoimmune disease that exhibits antibody-mediated destruction of platelets. Many of the therapies have targeted reducing the antibody production and/or the platelet destruction process within the reticuloendothelial system, including steroids, immunoglobulin, anti-RhD immunoglobulin, splenectomy, and rituximab. Relatively new insights into the pathophysiology of this disorder have led to the introduction of new therapies, such as the use of thrombopoietic agents to enhance platelet production. This review outlines many of the most commonly used therapeutic agents for the treatment of severe thrombocytopenia associated with both newly diagnosed and chronic ITP.

Microangiopathic disorders in pregnancy.

Microangiopathic disorders present with thrombocytopenia, hemolytic anemia, and multiorgan damage. In pregnancy, these disorders present a challenge both diagnostically and therapeutically, with widely overlapping clinical scenarios and disparate treatments. Although rare, a clear understanding of these diseases is important because devastating maternal and fetal outcomes may ensue if there is misdiagnosis and improper treatment. Microangiopathic disorders presenting in pregnancy are thus best assessed and treated by both obstetric and hematology teams. As a better understanding of the pathophysiology underlying each of the disease processes is gained, new diagnostic testing and therapies will be available, which will lead to improved outcomes.

Assisted reproduction in a patient with Klippel-Trenaunay syndrome: management of thrombophilia and consumptive coagulopathy.

Klippel-Trenaunay Syndrome (KTS) is a rare, sporadic triad of congenital malformations involving an extensive port wine stain, soft tissue or bone hypertrophy and underlying venous and/or lymphatic malformation involving an extremity. Pregnancy is known to exacerbate KTS complications and can put women at increased obstetrical risk due to deep venous thrombosis and other thromboembolic events. Here we report a case of a patient with KTS who achieved a pregnancy through in vitro fertilization (IVF) using her own eggs and a gestational surrogate in the setting of hypercoagulability and chronic consumptive coagulopathy.