Journal of hematology最新文献

Background: Chromosome 1q copy number alterations are common in newly diagnosed patients with multiple myeloma, and in most published studies, there is no distinction made between three copies or the addition of at least four copies. The impact of these copy number alterations on patient outcome and optimal treatment is not fully understood.

Methods: We retrospectively analyzed 136 transplant eligible patients with newly diagnosed multiple myeloma from our national registry, who were treated with first autologous stem cell transplantation (aHSCT) between January 1, 2018, and December 31, 2021. The primary endpoint was overall survival.

Results: Patients with at least four copies of chromosome 1q had the poorest prognosis, with an overall survival of only 28.3 months. In multivariate analysis, four copies of chromosome 1q were the only statistically significant factor for overall survival.

Conclusions: Despite the use of novel agents, transplantation, and maintenance therapy, patients with a gain of four copies of chromosome 1q have a very poor survival rate. Therefore, prospective studies using immunotherapy in this patient population are necessary.

Background: Crizanlizumab was approved by the United States Food and Drug Administration agency in 2019 for decreasing vaso-occlusive events (VOEs) in sickle cell disease (SCD). Data regarding the use of crizanlizumab in the real-world setting are limited. Our goal was to identify patterns of crizanlizumab prescriptions in our SCD program and evaluate the benefits and identify barriers to its use in our SCD clinic.

Methods: We conducted a retrospective analysis of patients who received crizanlizumab at our institution between July 2020 and January 2022. We compared acute care usage patterns before and after initiation of crizanlizumab, adherence to treatment, discontinuation and reasons for discontinuation. High utilizers of hospital-based services were defined as those with more than one visit to the emergency department (ED) per month or more than three visits to the day infusion program per month.

Results: Fifteen patients received at least one dose of crizanlizumab 5 mg/kg of actual body weight during the study period. The average number of acute care visits decreased following crizanlizumab initiation but was not statistically significant (20 visits vs. 10 visits, P = 0.07). Among high users of hospital-based services, the average number of acute care visits decreased after initiation of crizanlizumab (40 vs. 16, P = 0.005). Only five patients included in this study remained on crizanlizumab 6 months after initiation.

Conclusion: Our study suggests that crizanlizumab use may be helpful in decreasing acute care visits in SCD, particularly among high utilizers of hospital-based acute care services. However, the discontinuation rate in our cohort was extremely high, and further evaluation of efficacy and causes contributing to discontinuation in larger cohorts is warranted.

Aplastic anemia (AA) poses a significant threat to maternal and fetal health throughout the perinatal period. Diagnosis is based on complete blood count (CBC) and bone marrow biopsy with treatment varying based on severity of disease. This report highlights a case of AA incidentally identified by the third trimester CBC drawn in the outpatient office. Patient was referred for inpatient management to mobilize a multidisciplinary team of healthcare professionals including obstetricians, hematologists, and anesthesiologists to optimize maternal and fetal outcome. The patient received blood and platelet transfusions prior to delivering a healthy liveborn infant by cesarean section. This case highlights the importance for routine third trimester CBC screening to identify potential complications and decrease maternal and fetal morbidity and mortality.

Sickle cell disease is a well-known homozygous inherited hemoglobinopathy that causes vaso-occlusive phenomena and chronic hemolysis. Vaso-occlusion results in sickle cell crisis and can eventually lead to complications involving multiple organ systems. However, the heterozygous counterpart, sickle cell trait (SCT) has less clinical significance as these patients are generally asymptomatic. This case series examines three unrelated patients with SCT ranging from the age of 27 to 61 years, who presented with pain in multiple long bones. Hemoglobin electrophoresis confirmed a diagnosis of SCT. Radiographic images of the affected sites showed osteonecrosis (ON). Interventions included pain management and bilateral hip replacement in two of the patients. Historically, vaso-occlusive disease in patients with SCT with no evidence of hemolysis or other hallmark findings of sickle cell disease is rare. There are limited reported cases of ON in SCT patients. Clinicians should explore other hemoglobinopathies not tested on routine hemoglobin electrophoresis and alternative risk factors for ON in these patients.

Diffuse large B-cell lymphoma (DLCBL) is a heterogenous disease, with many phenotypic subtypes and occasional paraneoplastic syndromes being present. Herein, we describe a case of a 63-year-old woman, with relapsed/refractory DLBCL (RR-DLBCL) with artifactual hypoglycemia on laboratory testing, likely related to the mechanical effects of a new factor VIII inhibitor. We demonstrate our workup, consideration, treatment, and her clinical course. This patient did not present with a bleeding phenotype despite her aberrant laboratory results, and therefore determining her risk of bleeding to weigh against further diagnostic procedures presented a difficult decision. We utilized rotational thromboelastometry (ROTEM) to assist with clinical decision making regarding her paraneoplastic factor VIII inhibitor and the patient's bleeding risk. This led to a short course of dexamethasone. Her ROTEM improved, and an excisional biopsy was performed without any bleeding. To our knowledge, this is the only reported instance where this technology was utilized in this setting. We believe utilizing ROTEM to determine bleeding risk may be a beneficial tool for clinical practice in such additional rare cases.

Approximately 25,000 allogeneic transplants are performed annually worldwide; a figure that has steadily increased over the past three decades. The study of transplant recipient survivorship has become a cogent topic and post-transplant donor cell pathology warrants further study. Donor cell leukemia (DCL) is a rare but serious complication of allogeneic stem cell transplantation (SCT) where the recipient develops a form leukemia originating from the donor cells used for transplantation. Detection of abnormalities predicting donor cell pathology might inform donor selection, and the design of survivorship programs for early detection of these abnormalities might allow therapeutic intervention earlier in the disease course. We present four recipients of allogeneic hematopoietic stem cell transplant (HSCT) from our institution who developed donor cell abnormalities allogeneic SCT, highlighting their clinical characteristics and challenges.

B-cell prolymphocytic leukemia (B-PLL) is a rare B-cell neoplasm that typically presents with splenomegaly, a rising white blood cell count, and may or may not have B symptoms. The diagnosis usually requires a bone marrow biopsy and aspirate with flow cytometry and cytogenetic studies. At least 55% of the lymphocytes in the peripheral blood must be prolymphocytes to be defined as B-PLL. A thorough differential diagnosis would include mantle cell lymphoma, chronic lymphocytic leukemia (CLL) with prolymphocytes, hairy cell leukemia, and splenic marginal zone lymphoma. B-PLL is managed with regimens utilized for CLL, such as ibrutinib and rituximab but is tailored for each individual. The authors report a rare case of B-PLL in a patient with no known history of CLL. The authors discuss this entity in context of the 2017 and 2022 World Health Organization (WHO) classifications, the latter of which no longer recognizes B-PLL as a distinct entity. The authors hope that this article helps practitioners with the diagnosis and treatment of B-PLL. Perhaps with better recognition, and better documentation of histopathologic features of these rare cases going forward, it may prove to be a distinct entity again in future classifications.

Acute promyelocytic leukemia is a form of acute myeloid leukemia (AML) that is characterized by presence of a promyelocytic leukemia-retinoic acid receptor alpha fusion. In most patients, this fusion is detected on conventional karyotype as the t(15;17)(q24.1;q21.2) translocation, but some patients have cryptic translocations with a normal karyotype. Historically, AML is associated with a poor prognosis. Treatment with all-trans retinoic acid and arsenic trioxide assures long-term survival in the majority of patients. This treatment is generally well-tolerated but may cause hepatotoxicity. This is usually identified by transaminitis but resolves after temporary cessation of treatment. Our patient's hepatotoxicity did not resolve following all-trans retinoic acid and arsenic trioxide cessation which posed a diagnostic dilemma. This prompted exploration of other possible causes of hepatotoxicity. An eventual liver biopsy identified acid-fast bacilli, confirming a diagnosis of hepatic tuberculosis. A broad differential diagnosis is imperative when investigating abnormalities in liver function, especially in chemotherapy patients when treatment cessation may cause cancer progression.

Primary lymphoma of the bone (PLB) is a rare lymphoproliferative neoplasm that can present either as solitary or multiple bone lesions. We report four patients with PLB who were successfully treated with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) followed by consolidative radiotherapy. All patients achieved a complete remission and had excellent long-term outcomes. PLB has a favorable response to combined modality treatment with chemoimmunotherapy and radiation. Long-term outcomes of PLB tend to be better than those of non-osseous diffuse large B-cell lymphoma.

Li-Fraumeni syndrome (LFS) is a cancer predisposing syndrome caused by pathogenic germline TP53 gene mutations with important therapeutic and prognostic implications for many types of cancer. A small proportion of LFS patients develop B-cell lymphoblastic leukemia (B-ALL) in adult years. Standard treatment often proves inadequate, but immunotherapy has provided new treatment options. The current case report presents a pregnant woman with LFS and newly diagnosed B-ALL with hypodiploidy developed after treatment for early-onset breast cancer. We describe the treatment course, treatment-related complications and provide laboratory data crucial for evaluating and modifying treatment for this difficult clinical case. Our findings support the need for close collaboration between clinicians and experts on immunophenotyping. Through our report, we show that immunotherapy is feasible in patients with LFS and B-ALL, despite a poor initial response to induction therapy.