Clinical Medicine Insights-Blood Disorders最新文献

Primary plasma cell leukemia (PCL) is a rare and aggressive variant of multiple myeloma (MM). PCL is characterized by peripheral blood involvement by malignant plasma cells and an aggressive clinical course leading to poor survival. There is considerable overlap between MM and PCL with respect to clinical, immunophenotypic, and cytogenetic features, but circulating plasma cell count exceeding 20% of peripheral blood leukocytes or an absolute plasma cell count of >2000/mm³ distinguishes it from MM. After initial stabilization and diagnosis confirmation, treatment of PCL in a fit patient typically includes induction combination chemotherapy containing novel agents typically, with proteasome inhibitors (such as bortezomib) and immunomodulatory drugs (eg, lenalidomide), followed by autologous hematopoietic stem cell transplant (HSCT) and multidrug maintenance therapy using novel agents post-HSCT. Long-term outcomes have improved employing this strategy but the prognosis for non-HSCT candidates remains poor and new approaches are needed for such PCL patients not eligible for HSCT. Here, we report a case of primary PCL, and a comprehensive and up to date review of the literature for diagnosis and management of PCL. We also present the findings of Positron Emission Tomography (PET) scan. Since PCL is often associated with extra-medulary disease, including PET scan at the time of staging and restaging may be a novel approach particularly to evaluate the extra-medullary disease sites.

Despite representing 30% to 40% of newly diagnosed cases of adult non-Hodgkin lymphoma, diffuse large B-cell lymphoma (DLBCL) rarely presents (1) in the leukemic phase (2) with dysregulation of the TP53 tumor suppressor gene and (3) an elevated serum lactic acid level. In this case report and literature review, we highlight this unfortunate triad of poor prognostic features associated with an aggressive and fatal clinical course in a 53-year-old man with recrudescent DLBCL. A leukemic presentation of de novo or relapsed DLBCL is rare and may be related to differential expressions of adhesion molecules on cell surfaces. In addition, TP53 gene mutations are present in approximately 20% to 25% of DLBCL cases and foreshadow worse clinical outcomes. Finally, an elevated serum lactic acid level in DLBCL that is not clearly associated with sepsis syndrome is a poor prognostic factor for survival and manifests as type B lactic acidosis through the Warburg effect.

Chronic myelo-monocytic leukemia (CMML) is an aggressive myeloid neoplasm with some features of a myelodysplastic syndrome (MDS) and others of a myeloproliferative neoplasm (MPN). Rarely, patients with CMML have a co-existing lympho-proliferative disorder (LPD). In most cases, the lymphoid neoplasm is diagnosed first, and the CMML is considered to be a secondary therapy-induced form of leukemia. We report herein a unique case of de-novo CMML, with an underlying clonal T-cell population and describe its clinical presentation and laboratory findings. A 70-year old male presented with a 3-month history of cough, dsypnea, abdominal distension, and low-grade fever. Physical and radiological examination revealed hepatosplenomegaly but no lymphadenopathy. Peripheral blood had absolute monocytosis with marrow showing CMML with 10% blasts along with dysplasia in myeloid and erythroid lineages. Flow cytometry indicated possibility of chronic myelo-monocytic leukemia with 13% monocytic cells along with an additional clonal population of gamma/delta T cells (15%) with aberrant immunophenotype. Polymerase chain reaction (PCR) analysis was positive for clonal T-cell rearrangement. A diagnosis of CMML with an underlying clonal T-CLPD was made. The synchronous occurrence of CMML and T-cell neoplasm may be attributed to a genetic mutation common to both. Currently, there are no treatment guidelines for group of patients; hence individualized therapeutic strategies should be implemented to enable symptomatic improvement and provide optimum care.

Background: The appearance of inhibitory antibodies against antihemophilic factors is one of the most serious complications related to hemophilia.

Objective: The objective of this study was to identify variables and factors related to the development of inhibitory antibodies in a group of patients undergoing antihemophilic therapy in Colombia.

Methods: A case-control study in patients with hemophilia treated in Specialized Healthcare Provider Institutions (IPS-E) in 21 cities of Colombia of any age and with a diagnosis of inhibitory antibodies against factor VIII or IX during 2016. Four controls per case paired by age and type of hemophilia were used. Sociodemographic, clinical, and pharmacological variables were identified and analyzed.

Results: Seventeen patients with inhibitory antibodies and 68 controls with hemophilia were identified. The mean age was 28.3 ± 17.8 years. A total of 94.1% had hemophilia A, and 88.2% of the cases and 50.0% of the controls had severe hemophilia; 47.1% of the cases and 54.4% of the controls were receiving prophylaxis with coagulation factors. Multivariate analysis showed that having severe hemophilia (OR:17.0, 95%CI:1.32-219.60) and lack of knowledge of the coagulation factor with which the patient was treated before entering the care program in the IPS-E (OR:8.9, 95%CI:1.82-43.75) were significantly associated with a higher probability of developing inhibitory antibodies.

Conclusion and relevance: Coagulation factors associated with the development of inhibitory antibodies were severe hemophilia and lack of knowledge of the type of factor used prior to entering the follow-up cohort.

The spleen is among the most common extranodal sites for Hodgkin and non-Hodgkin lymphomas (NHLs); however, among lymphomas arising from the spleen, primary splenic lymphomas (PSLs) are rare. The group of PSLs includes primary splenic diffuse large B-cell lymphoma (PS-DLBCL), splenic red pulp small B-cell lymphoma, splenic marginal zone lymphoma (SMZL), and a splenic hairy cell leukemia variant. Delineating between the PSL variants can be challenging, especially as fine-needle aspirate and core needle biopsy of the spleen are not routinely offered at most medical centers. Herein, we describe the clinical course of 2 representative patients who presented with non-specific gastrointestinal symptoms, the first who was diagnosed with PS-DLBCL and the second who was diagnosed with SMZL. We review and contrast the clinical presentations, imaging techniques, and laboratory findings of these discrete lymphoma variants and offer strategies on how to delineate between these varied splenic processes. We also examine the use of splenectomy and splenic needle biopsy as diagnostics and, in the case of splenectomy, a therapeutic tool. Finally, we also briefly review treatment options for these varied lymphoma sub-types while acknowledging that randomized trials to guide best practices for PSLs are lacking.

[This corrects the article DOI: 10.1177/1179545X19875105.].

The Essential Thrombocythemia is a Chronic Philadelphia-negative Myeloproliferative Neoplasm characterized by a survival curve that is only slightly worse than that of age- and sex-adjusted healthy population. The criteria for diagnosis were reviewed in 2016 by WHO. The incidence varies from 0.2 to 2.5:100 000 people per year, with a prevalence of 38 to 57 cases per 100 000 people. The main characteristics of ET are the marked thrombocytosis and the high frequency of thrombosis. The spectrum of symptoms is quite wide, but fatigue results to be the most frequent. Thrombosis is frequently observed, often occurring before or at the time of diagnosis. The classification of thrombotic risk has undergone several revisions. Recently, the revised-IPSET-t has distinguished 4 risk classes, from very low risk to high risk. Driver mutations seem to influence thrombotic risk and prognosis, while the role of sub-driver mutations still remains uncertain. Antiplatelet therapy is recommended in all patients aged ⩾ 60 years and in those with a positive history of thrombosis or with cardiovascular risk factors, while cytoreductive therapy with hydroxyurea or interferon is reserved for high-risk patients.