Pre-analytical parameters associated with unsuccessful karyotyping in myeloid neoplasm: a study of 421 samples

Cytogenetics is essential in myeloid neoplasms (MN) and pre-analytical variables are important for karyotyping. We assessed the relationship between pre-analytical variables (time from collection to sample processing, material type, sample cellularity, and diagnosis) and failures of karyotyping. Bone marrow (BM, n=352) and peripheral blood (PB, n=69) samples were analyzed from acute myeloid leukemia (n=113), myelodysplastic syndromes (n=73), myelodysplastic syndromes/myeloproliferative neoplasms (n=17), myeloproliferative neoplasms (n=137), and other with conclusive diagnosis (n=6), and reactive disorders/no conclusive diagnosis (n=75). The rate of unsuccessful karyotyping was 18.5% and was associated with the use of PB and a low number of nucleated cells (≤7×103/µL) in the sample. High and low cellularity in BM and high and low cellularity in PB samples showed no metaphases in 3.9, 39.7, 41.9, and 84.6% of cases, respectively. Collecting a good BM sample is the key for the success of karyotyping in MN and avoids the use of expensive molecular techniques.

Allogeneic hematopoietic stem cell transplantation for myeloproliferative disorders: caution-review of indications and outcome / 白血病·淋巴瘤

The clinical features were reviewed for polycythemia vera, primary throbocythemia and primary myelofibrosis. Their indications and rational for allogeneic hematopoietic stem sell transplantation (allo-HCT) were recommended. The outcome after allo-HCT was described briefly. The significance of JAK2 mutation, especially V617F, detected for the minimal residual disease was introduced.

Usefulness of Real-time Semi-quantitative PCR, JAK2 MutaScreen (TM) Kit for JAK2 V617F Screening / 대한진단검사의학회지

BACKGROUND: Real-time PCR for quantification of JAK2 V617F has recently been introduced and used to evaluate the importance of mutant allele burden in both diagnosis and disease progression in myeloproliferative diseases (MPDs). We evaluated the usefulness of JAK2 MutaScreen(TM) kit that uses a real-time semiquantitative PCR method and has been designed to screen JAK2 V617F mutant allele burden. METHODS: Forty MPD patients were included in this study. We screened JAK2 V617F and determined the mutant allele burden using JAK2 MutaScreen(TM) kit. The mutant allele burden was estimated by six-scaled standards of JAK2 V617F mutant allele (2%, 5%, 12.5%, 31%, 50%, and 78%). For evaluation of test performance, an allele-specific PCR (AS-PCR) was carried out in all samples by using Seeplex JAK2 Genotyping kit. We assessed the clinical differences in distinct disease entities of MPDs according to JAK2 V617F mutant allele burden. RESULTS: JAK2 V617F mutation was detected in 30 cases, including 10 of 11 cases (91%) of polycythemia vera (PV), 13 of 20 cases (65%) of essential thrombocythemia (ET), and 2 of 3 cases (67%) of chronic idiopathic myelofibrosis (CIMF). The concordance rate between the two tests was 95% (38/40). JAK2 V617F mutant allele burden was greater than 50% in 17 cases, and 10 of them (59%) were PV. In contrast, mutant allele burden was less than 50% in 13 cases and 11 of them (85%) were ET. CONCLUSIONS: JAK2 MutaScreen(TM) kit that utilizes a real-time semi-quantitative PCR method is a useful tool for diagnosing MPDs precisely. It can be used to assess the grade of mutant allele burden as well as to screen JAK2 V617F simultaneously.

Analysis of domestic literature of 135 cases of chronic neutrophilic leukemia / 白血病·淋巴瘤

Objective To summarize clinical data of chronic neutrophilic leukemia(CNL) in China.Methods Chronic neutrophilic leukemia was searched as key words in full text database of Chinese periodical(www. cnki. net)(from 1994 to 2008). Results 136 cases of CNL were found, including male 77 cases and female 59 cases. Male: female ratio was 1.305:1. The mean age was 57.8 (8 ～87) years old. The common symptoms was fatigue,granulocytosis and upper abdominal discomfort or tumour. The splenomegaly was found in the majority of cases. The mature neutrophilic granulocyte in peripheral blood was high and cast longer time with raised segmented and band staged of neutrophils. Serum assay showed a raised level of VitB12 and uric acid. Bone marrow aspirate showed a hypercellular marrow with marked granulocytic proliferation, consisting mainly of stab forms and segmented neutrophils. The NAP score was high. Both Ph chromosome and bcr-abl fusion gene was negtive. Conclusion CNL was a scarce chronic leukemia. It should be discriminated with leukemoid reaction and chronic granulocytic leukemia. The course of CNL patients was long or short. It could transform into acute leukemia and palliative therapy was mainly applied at present.

Juvenile myelomonocytic leukaemia: a case series

Juvenile myelomonocytic leukaemia (JMML), previously known as juvenile chronic myeloid leukaemia (JCML) is a rare, myelodysplastic – myeloproliferative disease typically presenting in early childhood. This disorder is diffi cult to distinguish from other myeloproliferative syndrome such as chronic myeloid leukaemia (CML) because of the similarities in their clinical and bone marrow fi ndings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinaemia and raised fetal haemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukaemia (CMML) group, as seen in adult patients. We describe a series of three patients with JMML, who had almost similar clinical and laboratory fi ndings, and discuss the diffi culty in the classifi cation and treatment of the disease.

Clinical Features of Chronic Myeloproliferative Disease / 대한혈액학회지

BACKGROUND: Philadephia chromosome negative chronic myeloproliferative disease (CMPD) is a clonal disorder which includes polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). CMPD has chronic course and different clinical features with low rate of conversion to leukemia. We evaluated the clinical features of CMPD. METHODS: Since 1990, 57 cases of CMPD (18 PV, 35 ET and 4 IMF) were analysed and their clinical characteristics, survival and manner of evolution were evaluated retrospectively. RESULTS: Median age of 57 CMPD patients was 61 (range, 14~90) years and male to female ratio was 1:0.8. Most common clinical manifestations were dizziness/weakness (38.6%), headache (21.2%), cardiovascular events (19.3%) and other symptoms. Treatment with hydroxyurea was most frequent during clinical course of CMPD. Anagrelide was introduced in 12 patients recently. Complication of disease itself and treatment was not frequent except bleeding (3 cases) and thrombotic event (10 cases). Conversion to acute lekemia was none. Ten year overall survival was 83.3% in PV, 60.1% in ET and 4 cases of IMF were all alive at the 6 year follow up. CONCLUSION: CMPD is a chronic disease and long term control is much improved but definitive treatment without complication should be further investigated.