Log in to search using one of your social media accounts:

 

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2017 Dec 08;2017(1):79-87 Authors: West AH, Churpek JE Abstract Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs. This review presents a practical approach for the clinical hematologist that outlines when to suspect an IBMFS and how to use various diagnostic tools, from physical examination to screening laboratory tests and genomics, for the diagnosis of the most frequent IBMFSs: Fanconi anemia, telomere biology disorders, Diamond-Blackfan anemia, GATA2 deficiency syndrome, Shwachman-Diamond syndrome, and severe congenital n...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research

Related Links:

Condition:   Sickle Cell Disease Intervention:   Drug: IMR-687 Sponsor:   Imara, Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Anaemia Interventions:   Drug: Daprodustat tablets;   Drug: Matching placebo tablets;   Drug: Epoetin alfa vials;   Drug: Saline vials or bags Sponsor:   GlaxoSmithKline Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Purpose of review Immunotherapy for the treatment of cancer has advanced at a tremendous pace over the last decade. In this review, we provide an overview of recent progress in immunotherapy for the treatment of leukemia, focusing on antibody–drug conjugates (ADC), bi-specific T-cell engagers (BiTE), and chimeric antigen receptor (CAR) T cells. Recent findings Ongoing clinical trials of CAR T cells directed against CD19 have produced complete remission rates as high as 93%, prompting global multicenter phase 2 trials and the first FDA approval of a CAR T-cell therapy. Insights into cytokine release syndrome, a t...
Source: Current Opinion in Pediatrics - Category: Pediatrics Tags: HEMATOLOGY AND ONCOLOGY: Edited by Susan M. Blaney Source Type: research
Langerhans cell histiocytosis (LCH) has a mostly favorable outcome, whereas Langerhans cell sarcoma (LCS) is an aggressive tumor. It is still unclear whether any specific molecular alterations could underlie the aggressive behavior of Langerhans cell proliferations. We used targeted next-generation sequencing and array-comparative genomic hybridization to profile 22 LCH samples from different patients together with 3 LCS samples corresponding to different relapses from the same patient. The third LCS relapse was a composite tumor including both B-cell chronic lymphocytic leukemia and LCS components. The 22 LCH samples were...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
We report 3 adult cases with lymphoblasts showing a precursor B cell immunophenotype, and isolated MYC/IGH translocation. All 3 cases occurred in male patients with initial presentation of diffuse lymphadenopathy. Cases 1 and 2 had B-ALL with significantly increased lymphoblasts in peripheral blood and bone marrow. Case 3, a patient with human immunodeficiency virus infection, had the diagnosis of B-LBL made on a retroperitoneal lymph node biopsy and had no peripheral blood or bone marrow involvement. The leukemic and lymphoma cells in all 3 cases demonstrated Burkitt lymphoma-like morphology with deeply basophilic cytopla...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Purpose of review To provide an overview of the principles, safety and efficacy of adoptive cell therapy (ACT) in solid tumors particularly in gynecological cancers. Recent findings Efforts to target solid tumors using tumor-infiltrating lymphocytes and genetically modified T cells have shown promising efficacy in some patients. Two food and drug administration approvals for the treatment of leukemia are the first gene therapies available for cancer treatment in the United States. Summary Genetic engineering of antitumor immunity using T cells has the potential to target specific tumor-associated antigens and overc...
Source: Current Opinion in Obstetrics and Gynecology - Category: OBGYN Tags: GYNECOLOGIC ONCOLOGY: Edited by Gottfried E. Konecny Source Type: research
Conclusion: In children with AML, adenovirus infection was rare and typically not associated with severe disease, even without specific treatment. However, disseminated and fatal disease can occur in this population. Further investigations are needed to identify pediatric AML patients at particular risk for severe adenovirus infection and to determine optimal treatment approaches in these patients.
Source: The Pediatric Infectious Disease Journal - Category: Infectious Diseases Tags: Original Studies Source Type: research
Spontaneous rupture of hepatocellular carcinoma (HCC) is a potentially life-threatening complication. Diagnosis may be difficult, particularly in the absence of known liver cirrhosis or tumor. A 20-year-old male patient presented with progressive abdominal pain and shock. His past medical history was uneventful. Anemia, acute renal failure, and abnormal liver function test were demonstrated. Mild hepatomegaly, perihepatic and flank fluid, and multiple hypodense liver lesions suggestive of intrahepatic metastases or multifocal HCC were revealed by computed tomography. Two actively bleeding liver tumors and multiple tumors i...
Source: Case Reports in Gastroenterology - Category: Gastroenterology Source Type: research
Background: The aim of this study was to investigate the correlation between 7-hydroxymethotrexate (7-OHMTX) and creatinine and to evaluate the predictive value of 7-OHMTX levels on delayed elimination at 24 and 48 hours. In addition, differences in methotrexate (MTX), 7-OHMTX levels, and MTX metabolism using the ratio MTX/7-OHMTX were determined according to age. Methods: The authors included a total of 106 cycles, corresponding to 33 patients (mean age: 9.8 years, range: 2–18 years) suffering from acute lymphoblastic leukemia, non-Hodgkin lymphoma and osteosarcoma and receiving high-dose MTX (HD-MTX). Plasma M...
Source: Therapeutic Drug Monitoring - Category: Drugs & Pharmacology Tags: Original Article Source Type: research
Background: Therapeutic drug monitoring (TDM) of posaconazole is usually performed 1 week after starting the drug because of its long half-life. However, previous studies showed that measuring the posaconazole plasma concentration (PPC) on day 3 is effective for predicting steady-state levels. The purpose of this study was to evaluate the relevance of early TDM (day 3) of posaconazole for achieving an optimal PPC. Methods: This prospective study was conducted from September 2014 to August 2016. A total of 148 patients with acute myeloid leukemia or myelodysplastic syndromes received a 200 mg posaconazole oral suspensi...
Source: Therapeutic Drug Monitoring - Category: Drugs & Pharmacology Tags: Original Article Source Type: research
More News: Acute Leukemia | Acute Myeloid Leukemia | Anemia | Aplastic Anemia | Biology | Bone Marrow Failure Syndrome (BMFS) | Education | Faconi Anemia | Hematology | Laboratory Medicine | Leukemia | Myelodysplastic Syndrome | Pediatrics | Universities & Medical Training