The importance of adequate recognition of normal and dysplastic myelopoiesis for the diagnosis of myelodysplastic syndromes.

The diagnosis of myelodysplastic syndromes is based on the presence of cytopenias, dysplastic morphological features on peripheral blood (PB) and bone marrow (BM), cytogenetic abnormalities and requires to rule out other diseases resembling these conditions. Optical cytomorphology is the cornerstone of diagnosis of MDS. The recognition of cytological myelodysplasia has a crucial value in diagnosis and prognosis of MDS.

[Persistent polyclonal B-cell lymphocytosis: study of 35 cases].

Background And Objectives: Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare entity, presenting especially in adult smoker women. It is characterized by an increase of serum IgM, DR7-HLA haplotype, cytogenetic abnormalities and multiple IgH/BCL-2 rearrangements. To date, it has not been elucidated whether this is a benign or premalignant disorder.

A European consensus report on blood cell identification: terminology utilized and morphological diagnosis concordance among 28 experts from 17 countries within the European LeukemiaNet network WP10, on behalf of the ELN Morphology Faculty.

This paper describes the methodology used to develop a consensual glossary for haematopoietic cells within Diagnostics-WP10 of European-LeukemiaNet EU-project. This highly interactive work was made possible through the use of the net, requiring only a single two-day meeting of actual confrontation and debate. It resulted in the production of a freely accessible tool that could be useful for training as well as harmonization of morphological reports in onco-haematology especially, without geographic limitation, not limited to European countries.

Blast cells with nuclear extrusions in the form of micronuclei are associated with MYC amplification in acute myeloid leukemia.

We report three cases of acute myeloid leukemia without maturation [AML-M1 subtype according to the French-American-British classification (FAB)] with the presence of MYC oncogene amplification in form of double minutes (dmin) or homogeneously staining region (hsr). Blasts cells showed a particular morphology with extrusion of chromatin material. We observed by FISH the phenomenon of MYC aggregation in interphase cells and the formation of micronuclei excluded from the nucleus.

Transmission electron microscopy in hematological diagnosis.

Transmission electron microscopy (TEM) is still a very useful adjunct for hematological diagnosis in the era of molecular techniques. In this article, the main applications of TEM to the cellular identification of normal myeloid cells, the study of dyserythropoietic conditions, myelodysplastic syndromes, congenital dyserythropoietic anemias, acute myeloid leukemias, and lymphoproliferative disorders, as well as the application of ultrastructural cytochemical reactions in hematological diagnosis, are reviewed.

Is fluorescence in situ hybridization a useful method in diagnosis of polycythemia vera patients?

Polycythemia vera (PV) is a clonal stem cell disease with trilineage myeloid involvement, characterized by a growth factor-independent erythroid proliferation. At the time of diagnosis, the percentage of cytogenetic abnormalities using conventional cytogenetic techniques is less than 20% of all PV patients. In the present study, we compare the results between conventional cytogenetic methods and fluorescence in situ hybridization (FISH) probes in 31 untreated PV patients.

Genetic characterization of Sézary's syndrome by conventional cytogenetics and cross-species color banding fluorescent in situhybridization.

Background And Objectives: Sezary's syndrome is a peripheral T-cell neoplasm characterized by a pruritic exfoliative or infiltrated erythroderma, lymphadenopathies, and atypical T lymphocytes in the peripheral blood. Cytogenetic studies are scarce. This study was designed to increase cytogenetic information on this disorder.

Cytogenetic and fluorescence in situ hybridization studies in 60 patients with multiple myeloma and plasma cell leukemia.

We report cytogenetic results in a series of 60 patients affected with multiple myeloma (MM) and plasma cell leukemia (PCL) and compare the results with those previously reported. In our series, a total of 41% of MM patients and 71% of PCL patients displayed chromosome abnormalities. To evaluate the clinical value of monosomy 18, we obtained fluorescence in situ hybridization results (using centromeric probe for chromosome 18) of 22 MM patients who displayed a normal karyotype.

Genetic characterization of the paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia: A case report and review of the literature.

Paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) is characterized by a diffuse proliferation of cells, called paraimmunoblasts, normally located on the pseudoproliferation centers. Patients usually present with multiple lymphadenopathies and a rapid and aggressive progression of the disease. We report a case with paraimmunoblastic variant of SLL/CLL genetically well-characterized by conventional cytogenetics, comparative genomic hybridization (CGH), IgH/BCL-1, IgH/BCL-2, and p53 fluorescent in situ hybridization (FISH) probes and polymerase chain reaction (PCR) for detection of IgH/BCL-2 translocation.

Monosomy 15 in chronic myelomonocytic leukemia. description of a case and review of the literature.

We report a 89-year-old female diagnosed with chronic myelomonocytic leukemia (CMMoL) presenting with a monosomy 15. To our knowledge, this is the second reported case of CMMoL with monosomy 15. On the other hand, monosomy 15 in complex karyotypes is a frequent chromosome aberration in myelodysplastic syndromes, particularly in refractory anemia with excess of blasts.

A new case of acute nonlymphocytic leukemia (French-American-British subtype M1) with double minutes and c-MYC amplification.

Herein, we present a new case of acute nonlymphocytic leukemia (ANLL) French-American-British M1 subtype with presence of multiple double minutes (dmin) derived from the amplification of the c-MYC oncogene. A review of dmins in ANLL is presented.

Acute erythroid neoplastic proliferations. A biological study based on 62 patients.

Background And Objectives: The terms acute erythroleukemia and AML-M6 are defined in the FAB classification as proliferations of dysplastic erythroid elements mixed with blasts of myeloid origin, but pure erythroid leukemias are not included. The recent WHO classification has a category of acute myeloid leukemia not otherwise categorized, which includes acute erythroid leukemia (M6) of two subtypes: M6a-erythroleukemia (erythroid/myeloid) and M6b-pure erythroid leukemia. The aims of this co-operative study were to discover the incidences of these different subtypes, and pay special attention to the morphology of these entities.

Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation.

Here, we report a 72-year-old male patient with acute myeloid leukemia (AML) without maturation. Cytogenetic study of a bone marrow culture revealed the following karyotype: 47,XX,+21,+i(21)(q10)x2. Fluorescence in situ hybridization study with a locus specific probe for 21q22 verified a pentasomy of 21q as a sole clonal cytogenetic abnormality.

Contribution of cytogenetics and in situ hybridization to the study of monoclonal gammopathies of undetermined significance.

Monoclonal gammopathies of undetermined significance (MGUS) are characterized by the presence of a monoclonal protein in serum in quite asymptomatic patients. Ten to 33% of MGUS patients eventually will develop overt multiple myeloma, but no single laboratory test exists that can predict changes toward a malignant evolution. The aim of the present study was to apply conventional cytogenetics, the MAC (morphology, antibody, chromosome) method and fluorescence in situ hybridization (FISH) techniques in a series of 50 MGUS patients and 4 "smoldering" multiple myeloma patients to test the usefulness of their approaches as predictive methodologies.