Haematological manifestations and frequency of FAB subtypes in patients of acute meyoloid leukaemia: a single center study

To determine the clinical/haematological manifestations and frequency of different subtypes of Acute Myeloid Leukaemia [AML] according to the French-American-British [FAB] classification. Descriptive study. The study was carried out at haematology department of Armed Forces Institute of Pathology [AFIP], Rawalpindi from January 2011 to September 2012. Retrospective review of documents of patient diagnosed to have acute myeloid leukaemia on bone marrow aspiration was done. Patient's age, gender, major signs and symptoms at time of presentation and haematological parameters of peripheral blood and bone marrow were noted. The subtype of AML according to FAB classification was also documented. Data was entered and analyzed in SPSS 16.0. During the selected study duration acute myeloid leukaemia was diagnosed in 173 patients on bone marrow examination. Out of these 123 [71.1%] were males and 50 [28.9%] were females. Thirty [17.3%] of the patients fell in paediatric age group [< 15 years] while the remaining 143 [82.7%] were in adult age category [> 15 years]. The mean age of presentation was 9 years among paediatric patients and 44.5 years among adults. The overall mean age of both these two groups was 38.4 years [3-84 years]. Fever [71.6%], generalized weakness [34.1%] and pallor [23.7%] were the three main complaints of the patients, followed by splenomegaly and lymphadenopathy. The mean total leukocyte count, haemoglobin and platelet count were 57.4 x 10[9]/L, 7.9 g/dL and 54 x 10[9]/L respectively. AML-M[2] was found to be the most frequent FAB AML subtype among 72 [41.6%] paediatric and adult patients. The main signs and symptoms of the patients of AML presenting to our centre were fever, generalized weakness and pallor. AML-M[2] was found to be the most common FAB subtype among AML in children and adults

Comparison of real time polymerase chain reaction with microscopy and antigen detection assay for the diagnosis of malaria

To determine the sensitivity of a real time polymerase chain reaction [PCR] for malaria diagnosis and to compare its accuracy with microscopy and an antigen based rapid diagnostic test [OptiMal]. Cross-sectional analytical study. Military Hospital, Armed Forces Institute of Transfusion and Armed Forces Institute of Pathology, Rawalpindi, from July to December 2011. Venous blood samples of 300 clinically suspected patients of malaria were tested for malaria parasite by microscopy and OptiMal; and malaria parasite index was calculated for the positive samples. Plasmodium genus specific real time PCR was performed on all specimens, targeting small subunit rRNA gene. Diagnostic accuracy of three tests was compared and cost analysis was done. Out of 300 patients, malaria parasite was detected in 110, 106 and 123 patients by microscopy, OptiMAL and PCR respectively. Real time PCR was 100% sensitive while microscopy and OptiMal had sensitivity of 89.4% and 86.2% respectively. All methods were 100% specific. The cost per test was calculated to be 0.2, 2.75 and 3.30 US$ by microscopy, OptiMal and PCR respectively, excluding the once capital cost on PCR equipment. Genus specific real time PCR for the diagnosis of malaria was successfully established as a highly sensitive and affordable technology that should be incorporated in the diagnostic algorithm in this country.

Philadelphia chromosome in a patient of T cell acute lymphoblastic leukaemia

T-cell acute lymphoblastic leukemia [ALL] arises from blasts committed to T cell lineage at varying stages of maturation. It mostly occurs in later part of childhood, adolescent and in young adults. Patient usually presents to clinician with cytopenias, lymphadenopathy and organomegaly. Common symptoms and signs include, fatigue, generalized weakness, recurrent infections, bruising, bleeding complaints, pleural effusion, mediastinal mass, central nervous system, testicular, skin and bone involvement. The incidence of Philadelphia chromosome in T lineage ALL is less than 1%. We present a case of T cell ALL in which Philadelphia chromosome was detected. Morphology and immunophenotyping were also consistent with T cell ALL.

Mixed donor chimerism in non-malignant haematological diseases after allogeneic bone marrow transplantation

To determine the frequency of mixed donor chimerism in patients of non-malignant haematological diseases after allogeneic bone marrow transplant. A cross-sectional, observational study. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from July 2010 to June 2011. Methodology: Donor chimerism was assessed in patients of aplastic anaemia and beta-thalassaemia major who underwent allogeneic bone marrow transplantation [BMT]. Peripheral blood samples were used to assess chimerism status by analysis of short tandem repeats [STR]. In patients where pre-transplant blood sample was not available, swab of buccal mucosa was used for pre-transplant STR profile. A standard set of primers for STR markers were used and the amplified DNA was resolved by gel electrophoresis and stained with silver nitrate. The percentage of donor origin DNA was estimated by densitometer. Out of 84 patients, 52 [62%] were males, while 32 [38%] were females. In patients of beta-thalassaemia major, 31 [62%] developed mixed donor chimerism [MC], 13 [26%] developed complete donor chimerism [CC] and 6 [12%] had graft failure. In aplastic anaemia, 17 patients [50%] achieved MC, 13 [38.2%] had CC and 4 [11.8%] developed graft failure. The combined frequency of mixed donor chimerism for both the diseases was 58.3%. D3S1358 was the most informative STR marker in these patients. Majority of the studied patients developed mixed donor chimerism following bone marrow transplantation, whereas only a minor percentage of the patients had graft failure. Analysis of D3S1358 was the most informative in assessing donor chimerism in patients who underwent BMT

BRAFV600E mutation in a case of hairy cell leukaemia

Hairy cell leukaemia is a clonal B cell lymphoproliferative disorder. Patient usually presents to clinician with cytopenias and splenomegaly. Common symptoms include abdominal discomfort, fatigue, generalized weakness, recurrent infections, bruising and bleeding complaints. We present a case of Hairy cell leukaemia with only 25% neoplastic cells in which BRAFV600E mutation was detected. Cytochemical stain, trephine biopsy and immunophenotyping were also consistent with Hairy cell leukaemia