Trisomy X and myelodysplastic syndrome (MDS) with eosinophilia

We reported a young patient with myelodysplastic syndrome (MDS) with eosinophilia, in which her chromosomal analysis revealed the presence of trisomy X and a marker chromosome at chromosome 11. The technique used to detect the chromosomal abnormalities is a multicoloured –fluorescent in situ hybridization technique (M-FISH). Our observation suggested that these underlying chromosomal abnormalities were probably responsible for her development of MDS with eosinophilia. Myelodysplastic syndrome (MDS) is a condition whereby there is ineffective production of haematopoietic stem cells and poor quality of cells produced. The cause can either be a primary bone marrow problem, de novo or therapy related. Most MDS cases are secondary rather than primary. Many chromosomal abnormalities have been found in cases of myelodysplastic syndrome. We described a case of MDS with eosinophilia in association with presence of trisomy X and a marker chromosome in chromosome 11

Immature reticulocyte fraction in guiding stem cell harvest in autologous peripheral blood stem cell transplant

Peripheral blood (PB) CD34+ cells enumeration is currently the most reliable method to guide the timing of stem cell harvest. However, its usage is restricted by being technically challenging, costly, and time-consuming. Immature reticulocyte fraction (IRF) determination, which is simpler and cheaper and has a faster turn-around time, has been proposed for a similar purpose. The purpose of this study is to evaluate the value of IRF in guiding stem cell harvest and examine the correlation between IRF and PB CD34+ cells count. Daily pre-harvest tests, i.e. PB CD34+ cells and IRF from 21patients scheduled for autologous PBSC transplant were assessed. Stem cells harvests were commenced when the PB CD34+ cell count were more than 10 cell/ul. A total of 205 pre-harvest tests were analysed. Following stem cell mobilisations, both the IRF and PB CD 34+ cell counts rose with a variable pattern. In this study, we observed that the IRF peaks preceded the PB CD34+ count by 2 days. On the day of stem cell harvest, all the peak IRF values were >0.3. The PB CD34+ cell counts correlated with the harvested stem cell yield, whereby r2 = 0.77, p 0.3 may be used as a cut-off value for the initiation of PB CD34+ quantification prior to stem cell harvest

Aggressive variant large granular lymphocytic leukaemia: a case report

Clonal disorders of LGL may either be CD3+ CD56- or CD3- CD56+ phenotype and these have been designated as T-cell leukaemia (T-LGL) or natural killer cell (NK)-LGL leukaemia respectively. Clonality is usually demonstrated by clonal rearrangement of T-cell receptor gene rearrangement or identified by flowcytometry analysis. Most patients with T-LGL will have an indolent course. In this report we described an aggressiveness of disease in a patient with clonal CD3+ LGL leukaemia whose cells also co-expressed CD56 diagnosed by flowcytometry. The patient responded well to interrupt all standard risk protocol however succumbed to her disease while waiting for upfront stem cell transplant. This case highlights on both the classical laboratory findings of rare entity of disease as well as a review of the literature pertaining particularly on its management

Hemolytic disease of the fetus and newborn caused by anti-D and anti-S alloantibodies: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hemolytic disease of the fetus and newborn is most commonly caused by anti-D alloantibody. It is usually seen in Rhesus D (RhD)-negative mothers that have been previously sensitized. We report here a case of hemolytic disease of the fetus and newborn in a newborn baby caused by anti-D and anti-S alloantibodies, born to a mother who was RhD negative, but with no previous serological evidence of RhD alloimmunization.</p> <p>Case presentation</p> <p>A one-day-old Chinese baby boy was born to a mother who was group A RhD negative. The baby was jaundiced with hyperbilirubinemia, but with no evidence of infection. His blood group was group A RhD positive, his direct Coombs' test result was positive and red cell elution studies demonstrated the presence of anti-D and anti-S alloantibodies. Investigations performed on the maternal blood during the 22 weeks of gestation showed the presence of anti-S antibodies only. Repeat investigations performed post-natally showed the presence of similar antibodies as in the newborn and an anti-D titer of 1:32 (0.25 IU/mL), which was significant. A diagnosis of hemolytic disease of the fetus and newborn secondary to anti-D and anti-S was made. The baby was treated with phototherapy and close monitoring. He was discharged well after five days of phototherapy.</p> <p>Conclusions</p> <p>This case illustrates the possibility of an anamnestic response of allo-anti-D from previous sensitization in a RhD-negative mother, or the development of anti-D in mid-trimester. Thus, it highlights the importance of thorough antenatal ABO, RhD blood grouping and antibody screening, and if necessary, antibody identification and regular monitoring of antibody screening and antibody levels for prevention or early detection of hemolytic disease of the fetus and newborn, especially in cases of mothers with clinically significant red cell alloantibody.</p

Donor chimerism and bcr-abl gene status following non-myeloablative peripheral blood stem cell transplantation in chronic myeloid leukaemia patients in HUKM

Objective: This study was done to determine the relationship between donor chimerism and the presence of bcr-abl gene in chronic myeloid leukaemia (CML) patients post-transplantation. Methods: The study population consisted of all CML patients who had undergone non-myeloablative peripheral blood stem cell transplant in Hospital Universiti Kebangsaan Malaysia (HUKM) during the study period. All patients had their bone marrow aspiration done at diagnosis and day 30, 60, 100, 130, 160 and 190 post-transplantation. The samples were analysed for bcr-abl transcript as well as chimerism status. Results: A total of nine cases underwent non-myeloablative peripheral blood stem cell transplant. All patients were transplanted during the chronic phase. One patient was found to show mixed chimerism at day 30 post-transplant coinciding with bcr-abl transcript disappearance. Six patients showed that full donor chimerism correlated with bcr-abl transcript disappearance. In one patient, chronic myeloid leukaemia transformed into acute myeloid leukaemia. Another patient had a graft failure. Conclusion: This observational cohort study showed that full chimerism is required for disappearance of bcr-abl transcript but one case showed disappearance of bcr-abl transcript at day 30 while full chimerism was not achieved

Pegylated granulocyte colony stimulating factor versus nonpegylated granulocyte colony stimulating factor for patients after hematopoietic stem cell transplantation (Protocol)

This is the protocol for a review and there is no abstract. The objectives are as follows: To compare the efficacy and safety of pegylated G-CSF versus non-pegylated G-CSF for patients after HSCT

Molecular responses during chemotherapy in acute myeloid leukemias in predicting poor-response to standard chemotherapy.

Signal transduction pathways are constitutively expressed in leukaemic cells resulting in aberrant survival of the cells. It is postulated that in cells of chemo-sensitive patients, chemotherapy induces apoptotic signals leading to cell death while survival signals are maintained in cells of chemoresistant patients. There is very little information currently, on the expression of these mediators in patients immediately after chemotherapy initiation. We examined the expression pattern of proinfl ammatory cytokines, signaling molecules of the PI3K and MAPK pathways molecules and death receptor, DR5 on paired samples at diagnosis and during chemotherapy in acute myeloid leukaemia patients treated with cytosine arabinoside and daunorubicin. The results were correlated with remission status one month after chemotherapy. We found that in chemo-sensitive patients, chemotherapy signifi cantly increased the percentage of cases expressing TNF-α (p=0.025, n=9) and IL-6 (p=0.002, n=11) compared to chemo-resistant cases. We also observed an increased percentage of chemo-sensitive cases expressing DR5 and phosphorylated p38, and Jnk. Thus, expression of TNF-α, IL-6, DR5, phospho-p38 and phospho-Jnk may regulate cell death in chemo-sensitive cases. In contrast, a signifi cantly higher percentage of chemo-resistant cases expressed phospho-Bad (p=0.027, n=9). IL-1β and IL-18 were also found to be higher in chemo-resistant cases at diagnosis and during chemotherapy. Thus, expression of various cellular molecules in leukaemic blasts during chemotherapy may be useful in predicting treatment outcome. These cellular molecules may also be potential targets for alternative therapy

Childhood idiopathic myelofibrosis : a case report and review of literature.

Idiopathic myelofibrosis occurs predominantly in older adults. It is very rarely seen in children. We describe a 3-year-old girl with Down's syndrome who presented with recurrent chest infections associated with anaemia and easy bruising. There was mild hepatosplenomegaly. Full blood picture revealed pancytopaenia with leucoerythroblastosis with absence of circulating blast cells. Repeated attempts at bone marrow aspiration and trephine biopsy were unsuccessful. A trephine biopsy from the tibia showed depressed myelopoiesis and erythropoiesis, megakaryocytes with atypical morphology and increased bone marrow reticulin fibres, findings compatible with idiopathic myelofibrosis. She was treated symptomatically as she was clinically stable. Review of the English literature online yielded 46 reported cases of childhood idiopathic myelofibrosis with variable outcome from spontaneous remission to an indolent course with shortened survival. 6 cases evolved to another malignancy. 5 cases were associated with Down's syndrome

Systematic review of pre-clinical chronic myeloid leukaemia

The author would like to correct the error in the publication of the original article. The corrected detail is given below for your reading: The first sentence in the last paragraph on page 481 in ‘‘Discussion’’ section under the subheading “Overall completeness and applicability of evidence” should read as “Clonal haematopoiesis of indeterminate potential (CHIP) was first named in 2015 [27].