How I investigate dysgranulopoiesis.

Dysgranulopoiesis is a condition in which granulocytic production is defective and is most often described in neoplastic conditions. However, it can also be frequently seen in non-neoplastic conditions. Early suspicion and detection of these non-neoplastic causes may prevent further invasive and expensive interventions. In this review, we take a look at the various causes of dysgranulopoiesis with an emphasis on non-neoplastic etiologies, followed by a detailed outline of the laboratory approach for determining its many causes.

Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression.

BACKGROUND: Chronic lymphocytic leukemia (CLL) is a heterogeneous disease, which is attributed to differences in the genetic characteristics of the leukemic clone. We studied the genomic profile of 52 treatment-naïve CLL patients. METHODS: Genetic analysis was performed by multiplex ligation-dependent probe amplification (MLPA) using the SALSA P038 Probemix (MRC Holland, Amsterdam), which contains probes for 2p (MYCN,ALK,REL), 6q, 8p (TNFRSF10A/B), 8q (EIF3H,MYC), 9p21 (CDKN2A/B), 10q (PTEN), 11q (ATM, RDX, PPP2R1B, CADM1), chromosome 12, 13q14 (RB1, DLEU1/2/7, KCNRG, MIR15A), 14q, 17p (TP53) and chromosome 19, and for NOTCH1 7541-7542delCT, SF3B1 K700E, and MYD88 L265P mutations. RESULTS: The median age was 65 years (male:female=2:1). The median hemoglobin, total leukocyte, and platelet counts were 12.4 g/dL, 57.7×109/L, and 176.5×109/L, respectively. At least one genetic abnormality was observed in 34 (65%) patients. The most common abnormality was del(13q14) (deleted DLEU2 and DLEU1/RB1 genes), which was observed in 22 (42%) cases, followed by trisomy 12 [7 (13%) cases]. Del(11q) (deleted ATM, RDX11/PPP2R1B-4) and del(17p) (deleted TP53) were present in 5 (10%) and 2 (4%) cases, respectively. 19p13.2 (CDKN2D-2) amplification and NOTCH1 mutation were found in one case each. CONCLUSION: Genetic abnormalities are commonly (65%) observed in CLL patients. Del(13q), which is associated with DLEU2 and DLEU1/RB1 gene deletion, was the most common. Compared with other abnormalities, del(11q) and del(17p) patients presented with cytopenia and higher Binet stage, while those with del(13q14) had a longer time to first treatment.

Synchronous Plasma Cell Myeloma and Acute Myeloid Leukemia in a Therapy-Naïve Patient: A Rare Occurrence.

Plasma cell proliferations in patients with acute myeloid leukemia (AML) are rare, whether at presentation or during or after therapy. Interpretation requires correlation with the clinical background, drug history as well as inputs from tests for monoclonal gammopathy and end-organ damage. The major diagnostic issues stem from excluding myeloma alone with a plasmablastic morphology that mimics AML as well as reactive or polyclonal plasmacytosis occurring in a bonafide case of AML alone before rendering a rare diagnosis of true dual pathologies. We report a rare case of concurrent AML and plasma cell myeloma in a 55-year-old lady that posed a significant diagnostic challenge. The patient had significant co-morbidities complicating the clinical picture and was treatment-naïve at the time of diagnosis. Our approach to confirming the diagnosis, as well the challenges faced in flow cytometric analyses are highlighted. The pathogenesis of such dual pathologies remains unresolved, although various conjectures and theories have been propounded in literature.

Occurrence of Double Monoclonal Bands on Protein Electrophoresis: An Unusual Finding.

Various techniques of protein electrophoresis are used for detection of monoclonal proteins/paraproteins in serum and/or urine of patients with monoclonal gammopathies. These are detected as the so-called 'M' bands (monoclonal bands) on serum protein electrophoresis and/or immunofixation electrophoresis. In most cases, a single M-band is detected. However, more than one M-band can be detected in the samples of a minor proportion of patients. This condition is termed as 'double gammopathy' or 'biclonal gammopathy'. A knowledge of such an unusual occurrence is essential for recognition and appropriate interpretation of this entity.