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

Frequency of Janus associated kinase 2 [JAK2] mutation in patients of BCR-ABL negative myeloproliferative neoplasms

To determine the frequency of Janus associated kinase 2 mutation in the patients of BCR-ABL negative classical myeloproliferative neoplasms. Cross-sectional descriptive study. Molecular Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi from Jul 2011 to Jul 2012. Ninety three consecutive patients of Polycythaemia vera [PV], Essential thrombocythaemia [ET] and Idiopathic myelofibrosis [IMF] diagnosed by the conventional haematological criteria were included in the study. All patients were screened for G-T point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific PCR. Out of the 93 myeloproliferative neoplasm [MPN] patients, 33[35%] had polycythaemia vera, 36[39%] had essential thrombocythaemia and 24[26%] had idiopathic myelofibrosis. JAK2 mutation was seen in 64/93 [69%] patients including 33/33[100%] in PV, 19/36[52.6%] in ET and 12/24[50%] in IMF. Classical myeloproliferative neoplasms are an important group of heamatological disorder in our country. JAK2 gene mutation is seen in significant proportion of these disorders [69%]. JAK2 mutation analysis can be used to differentiate between polycythemia vera and secondary polycythemia in most cases with near certainty, where it was found in 100% of the cases

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.

Prevalence of hepatitis C virus ribonucleic acid in antibody screened blood in Northern Pakistan

Blood donors are currently screened for antibodies to hepatitis C virus [HCV] by enzyme immunoassay. This pilot study aimed to estimate the prevalence of viremic and potentially infectious donors by the HCV-RNA polymerase chain reaction [PCR] in donor population of Northern Pakistan and also to examine the prospects of adding nucleic acid testing [NAT] to serological screening protocols for donated blood with the purpose of reducing the risk of transfusion-transmission of HCV infection. Descriptive cross sectional study. The study was conducted at Armed Forces Institute of Transfusion, Rawalpindi in January 2010. Fifteen hundred samples negative for anti-HCV [EIA, third generation] were screened for HCV RNA using RT-PCR method for qualitative detection of HCV RNA, with a lower limit of detection of 200 Ill/ml. The prevalence of HCV RNA positivity in HCV antibody negative infectious blood could not be estimated as all blood donations were negative for HCV RNA. The prevalence of HCV transmission in anti-HCV screened blood has not yet been documented in Pakistan. The sample size [1500] of the pilot study was not large enough to predict prevalence of HCV RNA in anti-HCV tested blood donors. The introduction of NAT to screen donated blood has shown to improve blood -safety in developed world and is likely to have greater impact in Pakistan because of high prevalence of HCV in general population

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