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Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient  [PDF]
Tu??e Bulakba?? Balc?,Meltem Yüksel,Zerrin Y?lmaz,Feride ?ffet ?ahin
Turkish Journal of Hematology , 2010,
Abstract: Chronic idiopathic myelofibrosis is a myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Karyotype analysis of the bone marrow is an integral part of the diagnosis, especially as a discriminative tool in ruling out reactive conditions. The frequency of clonal cytogenetic anomalies in this disease is the highest among its group, varying between 30 and 75%. Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations. Here we report a 66-year-old male patient whose bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis. He was administered hydroxyurea treatment, splenic radiotherapy and multiple transfusions. The patient worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of this bone marrow sample revealed a complex karyotype reported to be 46,XY,del(9)(q22q34),t(8;17;21)(q22;q21;q22)[23]/46,XY[2], with a previously undefined three-way translocation and deletion in chromosome 9. The patient died shortly thereafter.
Hepatitis B virus infection and replication in human bone marrow mesenchymal stem cells
Ruiping Ma, Quantai Xing, Lihua Shao, Dakun Wang, Qingzhi Hao, Xia Li, Lintao Sai, Lixian Ma
Virology Journal , 2011, DOI: 10.1186/1743-422x-8-486
Abstract: Human BMSCs were confirmed using flow cytometry. Intracellular HBV DNA was detected at d 2 after infection and maintained at relatively high levels from d 6 to d 12. The maximal level of intracellular HBV DNA was 9.37 × 105 copies/mL. The extracellular HBV DNA was observed from d 3 to d 15, and the levels ranged from 3.792 × 102 copies/mL to 4.067 × 105 copies/mL. HBsAg in the culture medium was detected from d 2 to d 16. HBeAg secretion was positive from d 5 to d 13. HBcAg constantly showed positive signals in approximately 7%-20% of BMSCs from 2 days after exposure. Intracellular HBV covalently closed circular DNA (cccDNA) could be detected as early as 2 days postinfection, and strong signals were obtained with increasing time.HBV can infect and replicate in human BMSCs. Human BMSCs may be a useful tool for investigating HBV life-cycle and the mechanism of initial virus-cell interactions.Hepatitis B is one of the most common infectious diseases worldwide. It has been estimated that 2 billion people have been infected with hepatitis B virus (HBV). In addition, 360 million people have chronic HBV infection, and 0.6 million people die each year from HBV-related liver disease or hepatocellular carcinoma [1]. Despite the existence of a preventative vaccine, HBV represents a substantial threat to public health [1]. A convenient in vitro assay for HBV natural infectivity is currently unavailable, and the early steps of the viral life cycle are not well understood. Primary human hepatocytes are susceptible to HBV [2,3]. However, the use of this model is hampered by limited resources and the technical difficulties that are associated with primary hepatocyte cultures. In recent years, liver-related stem cells have attracted intense attention due to their proliferative capabilities and inherent characteristics. Previous studies have shown that human bone marrow mesenchymal stem cells (BMSCs) can differentiate into functional hepatocyte-like cells in vitro [4,5], and restore
The Presence of Precursors of Benign Pre-B Lymphoblasts (Hematogones) in the Bone Marrow of a Paediatric Patient with Cytomegalovirus Infection
Moreno-Madrid F,Uberos J,Díaz-Molina M,Ramírez-Arredondo A
Clinical Medicine : Oncology , 2008,
Abstract: Hematogones are normal B-lymphoid precursors that multiply in the bone marrow of small children and of adults with ferropenic anaemia, neuroblastoma or idiopathic thrombocytopenic purpura. They are not normally found in peripheral blood, and the immunophenotype is virtually indistinguishable from that of B lymphoblasts. We discuss the case of a 3-month infant with an active cytomegalovirus infection, with hepatitis and pancytopenia associated with 13% hematogones in the bone marrow.
Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia
Paradisi,Irene; González,Neida; Hernández,Alba; Arias,Sergio;
Investigación Clínica , 2010,
Abstract: hemoglobin city of hope (hb ch) (hbb: c.208g>a, beta 69 (e13)gly>ser) is a rare, anomalous change. seven independent carriers reported so far, had not displayed any hematological manifestations. the ethnic origin of the known instances is presumably heterogeneous, although they are mainly mediterraneans or equatorial west africans. we describe the case of a compound heterozygote in trans for hb s (glu6val) and hb city of hope (gly69ser) in an anemic two year-old boy with a severe immune-deficient phenotype and fatal chronic parvovirus b19 infection. haplotype with the hb s was bantu; while it was a mixed atypical benin/cameroon for hb ch. remote ancestral origin of the city of hope mutation in this family seems to be subsaharan african. the compound heterozygosis in trans for hemoglobins s and city of hope, jointly with an unfavorable hbb control region background and a viral chronic infection, seemed the cause of the fatal outcome in the patient. when accompanied by other hb deleterious mutations in trans, hb ch should not be considered any longer as an innocuous or functionally silent variant.
Evaluation of MicroRNA Expression in Patient Bone Marrow Aspirate Slides  [PDF]
Leah Morenos, Richard Saffery, Francoise Mechinaud, David Ashley, Ngaire Elwood, Jeffrey M. Craig, Nicholas C. Wong
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0042951
Abstract: Like formalin fixed paraffin embedded (FFPE) tissues, archived bone marrow aspirate slides are an abundant and untapped resource of biospecimens that could enable retrospective molecular studies of disease. Historically, RNA obtained from slides is limited in utility because of their low quality and highly fragmented nature. MicroRNAs are small (≈22 nt) non-coding RNA that regulate gene expression, and are speculated to preserve well in FFPE tissue. Here we investigate the use of archived bone marrow aspirate slides for miRNA expression analysis in paediatric leukaemia. After determining the optimal method of miRNA extraction, we used TaqMan qRT-PCR to identify reference miRNA for normalisation of other miRNA species. We found hsa-miR-16 and hsa-miR-26b to be the most stably expressed between lymphoblastoid cell lines, primary bone marrow aspirates and archived samples. We found the average fold change in expression of hsa-miR-26b and two miRNA reportedly dysregulated in leukaemia (hsa-miR-128a, hsa-miR-223) was <0.5 between matching archived slide and bone marrow aspirates. Differential expression of hsa-miR-128a and hsa-miR-223 was observed between leukaemic and non-leukaemic bone marrow from archived slides or flash frozen bone marrow. The demonstration that archived bone marrow aspirate slides can be utilized for miRNA expression studies offers tremendous potential for future investigations into the role miRNA play in the development and long term outcome of hematologic, as well as non-hematologic, diseases.
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger T?nnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn, Detlev Schindler
Orphanet Journal of Rare Diseases , 2007, DOI: 10.1186/1750-1172-2-5
Abstract: We describe a patient with pre- and postnatal growth retardation and dysmorphic facial features in whom the diagnoses of Seckel-, Dubowitz-, and Nijmegen breakage syndrome were variably considered. Cellular radiosensitivity in the absence of clinical manifestations of Ataxia telangiectasia lead to the diagnosis of DNA ligase IV (LIG4) deficiency syndrome, confirmed by compound heterozygous mutations in the LIG4 gene. At age 11, after a six year history of progressive bone marrow failure and increasing transfusion dependency the patient was treated with matched sibling donor hematopoetic stem cell transplantation (HSCT) using a fludarabine-based conditioning regimen without irradiation.The post-transplantation course was uneventful with rapid engraftment leading to complete and stable chimerism. Now at age 16, the patient has gained weight and is in good clinical condition.HSCT using mild conditioning without irradiation qualifies as treatment of choice in LIG4-deficient patients who have a matched sibling donor.DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4) [1]. The gene product of the LIG4 gene functions in nonhomologous end-joining (NHEJ), a major repair pathway for DNA double-strandbreaks in mammalian cells that is activated following DNA damage, but also during class switch [2] and during V(DJ) recombination [3]. The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia. As a result, the clinical diagnosis is often delayed and established by exclusion. LIG4-deficient patients are characterized by microcephaly, growth retardation starting in utero, distinctive facial appearance ("bird-like face"), developmental delay, immunodeficiency, pancytopenia, and pronounced clinical and cellular radiosensitivity [1,4,5]. According to their radiosensitive cellular phenotype, LIG4-deficient pati
Multiple myeloma presenting with coexisting severe marrow hypoplasia  [cached]
Medhi K,Kalita Dipti,Chopra Anita,Anand Mona
Indian Journal of Pathology and Microbiology , 2008,
Abstract: A 68-year-old man was referred to us with clinical and bone marrow (BM) features compatible with aplastic anemia. The correct diagnosis, hypoplasia of the BM coexisting with multiple myeloma, became apparent after noting rouleaux in the peripheral blood (PB) and approximately 50% plasma cells in the touch imprint of one of the two BM biopsies done. As standard therapy was precluded, the patient was put on dexamethasone but died within 4 days. This first case of the coexistence of untreated myeloma with aplastic BM shows that even apparently straightforward hypoplasia seen on the BM biopsy should be interpreted in conjunction with the PB smear and the BM touch imprint findings. Among other things, the BM biopsy and imprint should be repeated if the PB has findings such as rouleaux that do not fit with straightforward aplastic anemia. The combination of myeloma and BM aplasia precludes standard therapy and is rapidly fatal.
Squamous cell carcinoma of the tongue after bone marrow transplantation in a patient with Fanconi anemia
Salum, Fernanda Gon?alves;Martins, Gabriela Botelho;Figueiredo, Maria Antonia Zancanaro de;Cherubini, Karen;Yurgel, Liliane Soares;Torres-Pereira, Cassius;
Brazilian Dental Journal , 2006, DOI: 10.1590/S0103-64402006000200015
Abstract: fanconi anemia (fa) is an autosomal recessive disorder that might cause a variety of congenital and developmental abnormalities. the most important features of fa are progressive bone marrow failure and development of malignancies, particularly acute myeloid leukemia and solid tumors. this paper reports the case of a 12-year-old patient with fa assisted at the stomatology and bucomaxillofacial cancer prevention service of s?o lucas hospital, brazil, who had been submitted to bone marrow transplantation (bmt) at the age of 5 and exhibited oral lesions characteristic of chronic graft versus host disease (gvhd). the patient was treated and followed-up for the oral lesions. eleven years after the bmt, he developed squamous cell carcinoma of the tongue with an aggressive behavior, which was considered an untreatable condition. the patient died few months later from asphyxia at the age of 16. the reasons for development of these malignant conditions are unknown. however, chromosomal instability typically observed in fa cases, bmt factors and gvhd have been considered. systematic follow-up of these patients allows early and less invasive therapeutic approaches.
Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister
Hakan Gurkan,Faruk Kucukdurmaz,Tolga Akman,Filiz Ayd n,Ates Kadioglu
Case Reports in Medicine , 2010, DOI: 10.1155/2010/541061
Abstract: Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells.
A typical bilateral Toxoplasma retinochoroiditis in a bone marrow transplant patient with negative serum titers
Albert Hazan, Rakesh M Patel, David Levinson, Umar Mian, David C Gritz
Journal of Ophthalmic Inflammation and Infection , 2013, DOI: 10.1186/1869-5760-3-23
Abstract: A 27-year-old male with chronic myelogenous leukemia with history of bone marrow transplantation presented with floaters in his right eye. Fundus exam showed bilateral, multifocal retinochoroiditis with subsequent development of a mild vitritis. Serum cytomegalovirus and toxoplasmosis antibody titers and syphilis screen were negative. Aqueous polymerase chain reaction (PCR) analysis revealed the presence of Toxoplasma gondii DNA OU. Clindamycin (1.0 mg/0.1 mL) was injected bilateral intravitreal OU twice at 4 days apart with subsequent resolution of retinochoroiditis.When evaluating retinochoroiditis in an immunocompromised patient, one must keep a high index of suspicion for atypical presentations of well-known disease entities. Aqueous and vitreous samples for PCR can be useful in obtaining an accurate diagnosis and therefore provide appropriate management for the patient. Intravitreal clindamycin is an option for treatment in these patients.An immunocompromised patient presented with floaters and fundus lesions suspicious for infectious retinochoroiditis vs. chronic myelogenous leukemia (CML) relapse. Despite negative serum toxoplasmosis titers, an aqueous polymerase chain reaction (PCR) analysis revealed ocular toxoplasmosis bilaterally and the patient responded to therapy. We discuss clinical presentation, diagnostic workup, and various treatment options in the management of Toxoplasma retinochoroiditis. All research for this brief report was done with appropriate ethical approval from the Albert Einstein College of Medicine Institutional Review Board and informed consent was obtained from the subject.A 27-year-old male with history of CML on remission since treatment with imatinib, chemoradiation, and allogenic bone marrow transplantation 1 year prior to consultation and with active and recurrent acyclovir-resistant herpes simplex stomatosis presented with a 2-day history of floaters in his right eye. Patient’s medications included several immunosuppressive ag
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