Acute Pancreatitis in Children with Acute Lymphoblastic Leukemia Using L-Asparaginase: A Review of the Literature

L-asparaginase (L-Aspa) is utilized as a part of the therapy in children with acute lymphoblastic leukemia (ALL), achieving remission in 83–95% of the younger patients. Hypersensitivity reactions, as well as liver and pancreatic cytotoxicity, are severe documented side effects. L-Aspa-induced acute pancreatitis (AP) has been observed in 2.5–16% of treated patients. Patients with mild pancreatitis may be retreated with L-Aspa if they have no clinical symptoms within 48 hours, amylase and lipase levels are less than three times the normal’s upper limit, and there is no evidence of pseudocysts or necrosis on imaging. It is crucial to monitor patients under L-Aspa therapy, through careful observation of clinical signs and laboratory follow-up, as well as a continuous checkup for associated medications

Molecular study of the perforin gene in familial hematological malignancies

Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein

Quantitative analysis of human herpesvirus-6 genome in blood and bone marrow samples from Tunisian patients with acute leukemia: a follow-up study

Abstract Background Infectious etiology in lymphoproliferative diseases has always been suspected. The pathogenic roles of human herpesvirus-6 (HHV-6) in acute leukemia have been of great interest. Discordant results to establish a link between HHV-6 activation and the genesis of acute leukemia have been observed. The objective of this study was to evaluate a possible association between HHV-6 infection and acute leukemia in children and adults, with a longitudinal follow-up at diagnosis, aplasia, remission and relapse. Methods HHV-6 load was quantified by a quantitative real-time PCR in the blood and bone marrow samples from 37 children and 36 adults with acute leukemia: 33 B acute lymphoblastic leukemia (B-ALL), 6 T acute lymphoblastic leukemia (T-ALL), 34 acute myeloid leukemia (AML). Results HHV-6 was detected in 15%, 8%, 30% and 28% of the blood samples at diagnosis, aplasia, remission and relapse, respectively. The median viral loads were 138, 244, 112 and 78 copies/million cells at diagnosis, aplasia, remission and relapse, respectively. In the bone marrow samples, HHV-6 was detected in 5%, 20% and 23% of the samples at diagnosis, remission and relapse, respectively. The median viral loads were 34, 109 and 32 copies/million cells at diagnosis, remission and relapse, respectively. According to the type of leukemia at diagnosis, HHV-6 was detected in 19% of the blood samples and in 7% of the bone marrow samples (with median viral loads at 206 and 79 copies/million cells, respectively) from patients with B-ALL. For patients with AML, HHV-6 was present in 8% of the blood samples and in 4% of the bone marrow samples (with median viral loads at 68 and 12 copies/million cells, respectively). HHV-6 was more prevalent in the blood samples from children than from adults (25% and 9%, respectively) and for the bone marrow (11% and 0%, respectively). All typable HHV-6 were HHV-6B species. No link was shown between neither the clinical symptoms nor the abnormal karyotype and HHV-6 activation. A case of HHV-6 chromosomal integration was shown in one patient with AML. Conclusion This study confirms the absence of role of HHV-6 in the genesis of acute leukemia but the virus was reactivated after chemotherapy treatment.</p

A Rare Case of an Acquired Isolated Factor VII Deficiency was Discovered in a 23-Year-Old Female Patient

Introduction: Factor VII (FVII) deficiency, a rare bleeding disorder, can manifest as an autosomal recessive congenital or an acquired coagulopathy. Acquired FVII deficiency, although infrequently reported, presents unique challenges in understanding its mechanisms and identifying underlying causes.&nbsp;Case presentation: We present a case of acquired FVII deficiency discovered in a 23-year-old female patient with no apparent underlying disease. The patient exhibited spontaneous ecchymosis and gingival hemorrhage, along with low FVII activity and isolated prolongation of prothrombin time. Extensive laboratory investigations excluded liver dysfunction, familial deficiency, vitamin K deficiency, and inhibitory antibodies. Prompt treatment with Fresh Frozen Plasma (FFP) and bypassing agents resulted in a favorable response and resolution of hematomas.&nbsp;Conclusion: Acquired FVII deficiency was identified with bleeding symptoms in association with prolonged prothrombin time and a low level of FVII activity. In literature, this deficiency has been associated with various conditions such as sepsis, aplastic anemia, stem cell transplantation, and neoplasms, although approximately 14% of cases remain idiopathic. Clinical outcomes remain generally poor, with limited complete remissions reported