J Investig Med High Impact Case Rep
May 2024
Plasmablastic lymphoma (PBL) is a rare clinicopathological entity that still raises many diagnostic and management difficulties, particularly due to the overlap between plasmablastic lymphomas and myeloma features. We report a clinical presentation of PBL affecting bone marrow in a 43-year-old patient who was admitted for B symptoms, hepatosplenomegaly, and bicytopenia investigation. Based on these findings, acute leukemia was suspected.
View Article and Find Full Text PDFIntroduction: An important but rare adverse effect of vaccines is their association with autoimmune events, including hepatitis and aplastic anemia (AA). In this paper, we report a case of hepatitis followed by AA that occurred after the COVID-19 vaccine was administered.
Case Report: This paper focuses on a 30-year-old female who presented with acute hepatitis three weeks after receiving the second dose of the coronavirus Pfizer/BioNTech vaccine.
The t (8; 21) (q22; q22) with the resulting RUNX1- RUNX1T1 rearrangement is one of the most common cytogenetic abnormalities in acute myeloid leukemia (AML). It is associated with favorable prognosis. The t (5; 17) (q35; q21) is an uncommon translocation, fuses the gene for the nucleophosmin (NPM) to the retinoic acid receptor α(RARA) and was described essentially in acute promyelocytic leukemia (APL) variant.
View Article and Find Full Text PDFBackground: In the literature, reported cases of Acquired hemophilia A (AHA) induced by COVID-19 vaccination occurred after Adenoviral Vector Deoxyribonucleic Acid (DNA)- and SARS-CoV-2 Messenger Ribonucleic acid (mRNA)-Based vaccines. Here, and to the best of our knowledge, we report the first case of AHA occurring after an inactivated Sinovac-coronavac COVID-19 vaccine.
Case Presentation: A 69-year-old Tunisian male patient consulted for severe left leg pain limiting physical mobility due to a 5*6 cm large ecchymosis located at the left inner thigh, having spontaneously appeared 5 days prior consultation and without notion of trauma.
Introduction: Apoptosis deregulation have been associated to tumorigenesis process and was highlighted as a prominent hallmark of cancer. Several mutations have been reported in several forms of Blood cancer. However, it has never been investigated in familial aggregations of hematological malignancies.
View Article and Find Full Text PDFBackground: bcr-abl fusion gene is the hallmark of chronic myeloid leukemia (CML). RQ-PCR provides an accurate measure of the total leukemia cell mass and the degree to which bcr-abl transcripts are reduced by therapy correlates with progression free survival.
Aim: We report molecular assessment of residual disease in CML Tunisian patients.
Data are limited in developing countries regarding the clinicopathologic features and response to therapy of chronic myeloid leukemia (CML) in the era of imatinib (IM). The objective of this study is to report on the clinicoepidemiologic features of CML in Tunisia, to evaluate the long-term outcome of patients in chronic (CP) or accelerated phase (AP) treated with IM 400 mg daily as frontline therapy, and to determine imatinib's efficacy and safety. From October 2002 to December 2014, 410 CML patients were treated with IM in six Tunisian departments of hematology.
View Article and Find Full Text PDFThe Tunisian adult's Hodgkin lymphoma (HL) Study Group was created in 1999. It aimed to improve the management of this curable hematologic malignancy by standardizing the diagnosis, assessment of disease, treatment management and therapeutic evaluation in different Tunisian centers (Hematology, oncology and radiotherapy).Since 1998, four versions of the prospective national protocol for treating adult Hodgkin lymphoma have succeeded (MDH99, MDH2002, MDH2008, MDH2015).
View Article and Find Full Text PDFPurpose: The introduction and success of imatinib mesylate have become a paradigm shift in chronic myeloid leukemia (CML) treatment. However, despite its high efficiency, resistance to imatinib has emerged as a significant problem, which may in part be caused by pharmacogenetic variability. Three single-nucleotide polymorphisms (C1236T, G2677T/A, C3435T) and/or mRNA expression changes of ABCB1 gene were demonstrated to be associated with inter-individual variability of imatinib response in CML patients.
View Article and Find Full Text PDFThe genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations.
View Article and Find Full Text PDFHypercalcemia and severe osteolytic lesions are rare complications of acute lymphoblastic leukemia (ALL) in childhood. We report a case of a 3 years old boy who presented with prolonged fever, nausea, vomiting and increasing lower limbs pain. Skeletal X-rays and CT scan showed severe osteolytic lesions of the skull and extremities.
View Article and Find Full Text PDFPrimary non-Hodgkin's lymphoma's of the tongue is very rare and accounts for 1% of all malignant tumor of the oral cavity. Clinical features are non-specific ulcerative lesions that do not heal. In the literature, the majority of cases are diffuse large B cell type however, T cell phenotype also may occur.
View Article and Find Full Text PDFAuto-immun events are rare in multiple myeloma (MM). Here, we report one MM case complicated by Evans syndrome (Autoimmun hemolytic anemia (AIHA) associated with thrombocytopenia). A 52-year-old man was admitted in nephrology department with severe anemia, renal insufficiency and hypergamma globulinemia.
View Article and Find Full Text PDFIntroduction: Genetic predisposition to familial hematological malignancies was previously described through several epidemiological analyses, but the genetic basis remains unclear. The tumor-suppressor ARLTS1 gene was previously described in sporadic hematological malignancies and familial cancer context.
Methods: In this study, we sequence the ARLTS1 gene in 100 patients belonging to 88 independent Tunisian and French families.
Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.
View Article and Find Full Text PDFIntroduction: The monitoring of minimal residual disease (MRD) approach in patients diagnosed with B-acute lymphoblastic leukemia (B-ALL) allows an early detection of residual clones inducing relapses and therefore appropriate therapy strategy. The molecular markers may identify and quantify the residual blasts in B-ALL with normal cytology. In this study, we aimed to use combined IKZF1, IGH and IGK immunoglobulin genes for diagnosis and MRD monitoring in B-ALL sample using MLPA, multiplex PCR and real-time quantitative PCR.
View Article and Find Full Text PDFMutations are responsible for familial cancer syndromes which account for approximately 5-10 % of all types of cancers. Familial cancers are often caused by genetic alterations occurring either in tumor suppressor or genomic stability genes such as TP53. In this study, we have analyzed the TP53 gene by direct sequencing approach, in a panel of 18 Tunisian familial hematological malignancies cases including several forms of leukemia, lymphoma and myeloid syndrome and 22 cases of sporadic acute leukemia.
View Article and Find Full Text PDFHospital environment is considered the main source of invasive aspergillosis (IA) in leukemic patients. This study aimed to describe Aspergillus colonisation in leukemic patients and their hospital environment and to test whether Aspergillus environmental contamination was associated with IA. For a 2-year period including 14-month renovation work, 91 acute leukaemia inpatients at the hematology department of University hospital in Sousse (Tunisia) were prospectively included.
View Article and Find Full Text PDFAlthough scarce, available data suggest that the epidemiology of invasive aspergillosis (IA) in North Africa differs from northern countries, where more than 80 % is caused by Aspergillus fumigatus. This study aimed at describing the epidemiology of IA in the region of Sousse, Tunisia, and at assessing the usefulness of the available diagnostic tools. For 2 years, clinical and mycological data were prospectively collected from 175 neutropenia episodes of 91 patients hospitalised in the haematology department at the Farhat Hached hospital in Sousse (Tunisia).
View Article and Find Full Text PDFThe resistance of Aspergillus species to antifungal is increasingly reported and the knowledge of the local epidemiology and antifungal susceptibility pattern is pivotal to define adequate treatment policies. Our study aimed to: 1) describe the in vitro antifungal susceptibility profile of the Aspergillus species isolated from patients with haematological malignancies in Tunisia; 2) compare the E-test and Sensititre Yeast-One assays for the detection of paradoxical growth and trailing effect, both phenotypes commonly exhibited by Aspergillus spp. upon exposure to caspofungin and 3) to evaluate the mortality rate in patients according to the causative Aspergillus species and the antifungal treatment.
View Article and Find Full Text PDFWorld J Gastrointest Pathophysiol
August 2013
Dasatinib is a second-line tyrosine kinase inhibitor used in patients with imatinib resistant or intolerant chronic myeloid leukemia (CML) and Philadelphia chromosome-positive acute leukemia. Gastrointestinal bleeding may occur in up to 7% of patients using dasatinib, although, severe dasatinib-related acute colitis had rarely been reported. Here, we present the case of a 36-year-old female who progressed to acute myeloid leukemia after fourteen months of receiving imatinib for CML in the chronic phase and was treated with a dasatinib-containing chemotherapy regimen.
View Article and Find Full Text PDFThe association of essential thrombocythemia and multiple myeloma is extremely rare, with only three patients previously treated with hydroxyurea reported in the literature until now. In this paper, we report the case of a 66 year old male who developed IgG-kappa M six years after the diagnosis of essential thrombocythemia, for which he had received hydroyurea. The possible etiological and pathogenic link between both these entities is here discussed.
View Article and Find Full Text PDFThe acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis.
View Article and Find Full Text PDFFanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test.
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