Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series-Spanning 52 years of experience in a single center.

Ring chromosomes (RCs) are a structural aberration that can be tolerated better in acrocentric or gonosomal chromosomes. Complete RCs arise from telomere-telomere fusions. Alternatively, genomic imbalances corresponding to the ends of the chromosomal arms can be seen with RC formation. RCs are unstable in mitosis, result in mosaicism, and are associated with a "ring syndrome," which presents with growth and development phenotypes and differs from those features more frequently observed with pure terminal copy number changes. Due to variability in mosaicism, size, and genomic content, clear genotype-phenotype correlations may not always be possible. Given the rarity of RCs, this historical data is invaluable. We performed a retrospective review of individuals bearing RCs to investigate the incidence in our laboratory. This work details the methods and features seen in association with twenty-three autosomal RCs. In decreasing order, the most frequently seen autosomal RCs were 18, 22, 4, 13, 17, and 9. The additional cases detail clinical and cytogenomic events similar to those reported in RCs. As methodologies advance, insights may be gleaned from following up on these cases to improve genotype-phenotype correlations and understand the cryptic differences or other predisposing factors that lead to ring formation and development.

Lupus erythematosus cells in bone marrow: the only clue to a previously unsuspected diagnosis of systemic lupus erythematosus.

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune multisystem disease characterized by the development of antinuclear antibodies. Nowadays considered outdated, lupus erythematosus (LE) cell preparation served as a screening test for SLE for decades. However, the importance of discovering LE cells on routine cytology cannot be overemphasized. CASE: We report the case of a 30-year-old female in whom bone marrow aspiration (BMA) was performed during an investigative workup for pyrexia of unknown origin. The observation of LE cells in direct bone marrow smears (without the use of an anticoagulant) raised the suspicion of SLE, which was later confirmed by antinuclear antibody testing. CONCLUSION: In the present case, LE cells were observed on BMA performed for the investigation of fever of unknown origin. The unexpected observation of LE cells in BMA smears emphasizes the fact that good morphological observation of marrow aspirates can provide crucial clues to a previously unsuspected diagnosis.

Abnormal WBC scattergram: a clue to the diagnosis of malaria.

OBJECTIVE: Malaria is highly prevalent and endemic in tropical countries and carries a significant health burden. The detection of malaria by light microscopy of Giemsa-stained smears is the gold standard. There are many hematological abnormalities associated with malaria like anemia, thrombocytopenia, and leucopenia; however, none of these abnormalities are specific. The present study was undertaken to assess the utility of WBC scattergram in predicting the diagnosis of malaria. METHODS: In this study all cases diagnosed as Plasmodium vivax/Plasmodium falciparum infection on peripheral smear examination were included. Their complete blood counts and WBC scattergrams obtained from XT2000i were critically evaluated. Accordingly, sensitivity, specificity, positive predictive value (PPV), and negative predictive value of detection of malaria by abnormal WBC scattergram with and without abnormal blood counts were also calculated. RESULTS: A total of 2251 ethylendiaminetetraacetic acid samples were run on XT2000i hematology autoanalyzer. Out of these 148 cases of malaria were diagnosed on peripheral smear (128 P. vivax and 20 P. falciparum). While analyzing the WBC scattergrams, 233 cases including 124 (83.8%) malaria cases showed different abnormalities. Sensitivity and PPV for the diagnosis of malaria by abnormal WBC scattergram were 83.78 and 53.20%, respectively. This had increased to 98.60 and 57.25%, respectively, when cytopenias were included. DISCUSSION: Sysmex XT-2000i is capable of detecting specific abnormalities in WBC scattergram in patients with malaria. Therefore, the presence of an abnormal WBC scattergram with thrombocytopenia in a febrile patient helps the pathologist to clinch the diagnosis of malaria.

Juvenile myelomonocytic leukemia.

Juvenile myelomonocytic leukemia (JMML) is a rare fatal hematopoietic disorder of early childhood. We are presenting a case of 9-month-old female child who was admitted with abdominal distension, irritability, and hepatosplenomegaly. Peripheral blood film examination showed leukoerythroblastosis with leukocytosis, absolute monocytosis, microcytic hypo chromic anemia, and thrombocytopenia. Bone marrow examination showed myeloid hyperplasia, Hb HPLC revealed normal HbF (1.3 %) and HbA2 (2.9 %). There was absolute gamma globulinemia and DCT positivity. Cytogenetic studies revealed a normal karyotype with absence of Philadelphia (Ph) chromosome, monosomy 7 or any other chromosomal abnormality. Diagnosis of JMML was rendered according to the diagnostic criteria laid down by WHO classification 2008 with presence of peripheral blood monocytosis >1 × 10(9)/L, blasts <20 % of leucocytes in blood or nucleated cells in bone marrow, absence of Ph chromosome, presence of immature granulocytes in the blood and WBC count >10 × 10(9)/L. The patient was then started on a regimen of chemotherapy to which she gave a promising response.

Screening of blood donors for erythrocyte alloantibodies.

OBJECTIVE: To assess the prevalence of the anti-red blood cell antibodies in the donor population of Delhi. METHODS: This prospective study was conducted in Regional Blood Transfusion Centre (RBTC), Lady Hardinge Medical College (LHMC) and associated hospitals from March 2010 to March 2011. Antibody screening of all donor serum/plasma was performed as routine immunohaematological procedure. Any positive sera were further investigated to identify the specificity of irregular erythrocyte antibody by commercially available red cell panel (ID-Dia Panel, Diamed-ID Microtyping System). The titres and thermal amplitude of the identified antibodies were evaluated. RESULTS: A total of 7756 donors were screened, of which 7648 donors were males (98.6%) and 108 were females (1.4%). The maximum number of donors belonged to age group of 26-30 years. A total of four donors showed presence of alloantibodies in their serum (0.05%). On antibody identification, two of them were anti-C, one was anti-Lewis(a) antibody and one was autoantibody. DISCUSSION: This study was conducted to highlight the significance of detecting irregular erythrocyte antibodies in healthy donors.

Concurrent audit of fresh frozen plasma: experience of a tertiary care hospital.

UNLABELLED: Fresh frozen plasma (FFP) transfusion is among the highest risk of all blood component transfusions and also the most inappropriately used blood component. All these factors have impact on safety, economy, and work burden. OBJECTIVE: To assess the utilization of FFP in a tertiary care hospital. METHODS: Concurrent audit was conducted manually over the period of 4 months from April 2010 to July 2010. Patient's age, sex, clinical diagnosis, indication for FFP transfusion, and coagulation profile were noted. Data were analysed and episodes of transfusion were divided into appropriate and inappropriate. Requests were further classified according to the requesting department, clinical diagnosis, and coagulation profile. RESULTS: A total of 1763 units of FFP were transfused to 560 patients in 877 episodes of requisition. Out of 877 episodes, about 686 (78.2%) requests were found to be inappropriate. Highest number of FFP requisitions was received from department of paediatrics and paediatric surgery (580 episodes). Most inappropriate requests were received from the department of orthopaedics (88.9%) and paediatrics (80.17%). The most common indication for FFP transfusion was surgical/traumatic bleeding/massive transfusion (40.9%) in which 68.5% requests were inappropriate. Out of 686 inappropriate episodes, the most common cause was in setting of normal or mildly altered coagulation profile irrespective of bleeding status of patient. DISCUSSION: Inadvertent use of FFP is a major problem and guidelines are not strictly adhered to. Concurrent audit of FFP use needs to be done to make appropriate interventions to prevent misuse of this valuable commodity.