IgM multiple myeloma: pathologic evaluation of a rare entity.

Objectives: To delineate the pathology of immunoglobulin M-producing multiple myeloma (IgM MM).

Methods: Clinicopathologic data were reviewed for 15 cases meeting World Health Organization criteria for MM and having a serum IgM paraprotein. Immunohistochemistry was performed on diagnostic bone marrow specimens for common B-cell and plasma cell markers.

Evaluation of revised IPSS cytogenetic risk stratification and prognostic impact of monosomal karyotype in 783 patients with primary myelodysplastic syndromes.

Cytogenetic classification by the revised international prognostic scoring system (IPSS-R) and the prognostic value of monosomal karyotype (MK) were assessed in 783 patients with primary myelodysplastic syndromes (MDS). At 22 months median follow-up, 562 (72%) deaths were recorded. Percentages of patients with IPSS-R "very good," "good," "intermediate," "poor," and "very poor" cytogenetic categories was 5, 63, 18, 4, and 10%, respectively.

Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance.

SRSF2, SF3B1, and U2AF35 (U2AF1) are the three most frequent genes involved with spliceosome mutations in myeloid malignancies. SF3B1 mutations are most frequent (~80%) in myelodysplastic syndromes (MDS) with ring sideroblasts (RS) but lack prognostic relevance. SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis.

Prognostic irrelevance of ring sideroblast percentage in World Health Organization-defined myelodysplastic syndromes without excess blasts.

The presence of ≥ 15% bone marrow (BM) ring sideroblasts (RS) and < 5% blasts is required for a diagnosis of refractory anemia with ring sideroblasts. We examined the phenotypic and prognostic relevance of this "15%" RS threshold in 200 patients with myelodysplastic syndromes (MDS) without excess blasts and with ≥ 1% RS. The impact of RS% was assessed both as a continuous and categorical variable: < 5% (n = 56), 5%-14% (n = 32), 15%-50% (n = 79), and > 50% (n = 33).

SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value.

SF3B1 mutations were recently reported in myelodysplastic syndromes (MDSs), especially in the presence of ring sideroblasts (RSs). We sought to define the interaction between SF3B1 mutations, morphology, karyotype, and prognosis in MDS with more than or equal to 15% RS (MDS-RS). We studied 107 patients with MDS-RS, including 48 with refractory anemia with RS (RARS), 43 with refractory cytopenia with multilineage dysplasia (RCMD)-RS, 11 with refractory anemia with excess blasts-1 (RAEB1)-RS, and 5 with RAEB2-RS.

The significance of isolated Y chromosome loss in bone marrow metaphase cells from males over age 50 years.

To further investigate the potential clinical significance of Y chromosome loss as the sole bone marrow karyotype change, we studied 161 Mayo Clinic male patients with 75% or more metaphase cells with Y loss, and correlated the percent Y loss with age and hematopathologic review. In patients with a lymphoproliferative or plasma cell disorder, the negligible proportion of bone marrow involvement cannot account for the observed high proportion of -Y cells. In males with myeloid disease, Y loss appears to often represent the abnormal myeloid clone, which may also harbor acquired genetic changes that are not observed by conventional cytogenetic analysis.

Predictive value of blood and bone marrow flow cytometry in B-cell lymphoma classification: comparative analysis of flow cytometry and tissue biopsy in 252 patients.

Objective: To study the effectiveness of peripheral blood (PB) and bone marrow flow cytometric immunophenotyping (FCIP) in predicting the histologic B-cell lymphoma type.

Patients And Methods: We studied the FCIP results and tissue histopathology from 252 patients with B-cell lymphoma seen at Mayo Clinic's site in Rochester, MN, between January 1, 1997, and January 1, 2004, who had positive results on PB, bone marrow, or body fluid FCIP and a corresponding diagnostic tissue biopsy specimen.

Results: Most of the B-cell lymphomas studied were low grade, with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma being most common.

Isolated trisomy 15: a clonal chromosome abnormality in bone marrow with doubtful hematologic significance.

We identified 18 patients with an isolated bone marrow clonal chromosomal abnormality, trisomy 15 (with or without -Y), who did not have any morphologic or clinical features of hematologic disease at initial examination. All but 1 patient was older than 65 years. Fourteen patients had underlying nonhematologic, chronic diseases.

Clinical course and prognosis of smoldering (asymptomatic) multiple myeloma.

Background: Smoldering (asymptomatic) multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Prognostic factors for the progression and outcome of this disease are unclear.

Methods: We searched a computerized database and reviewed the medical records of all patients at Mayo Clinic who fulfilled the criteria of the International Myeloma Working Group for the diagnosis of smoldering multiple myeloma between 1970 and 1995.

An unusual case of leukemic mantle cell lymphoma with a blastoid component showing loss of CD5 and aberrant expression of CD10.

Characteristically, mantle cell lymphoma (MCL) expresses surface immunoglobulin (sIg), CD19, CD20, and CD5 and lacks CD10 and CD23. Rare CD5-MCL variants have been described. This report describes a case of leukemic MCL with morphologically and immunophenotypically distinct classic MCL and blastoid-variant MCL (BV-MCL) components.

Despite apparent morphologic and immunophenotypic heterogeneity, Waldenstrom's macroglobulinemia is consistently composed of cells along a morphologic continuum of small lymphocytes, plasmacytoid lymphocytes, and plasma cells.

We studied the clinical, morphologic, and immunophenotypic features of 26 Waldenstrom's macroglobulinemia (WM) cases, each with an IgM spike of >or=3.0 g/dL. The neoplastic cells were consistently composed of a spectrum of small lymphocytes, plasmacytoid lymphocytes, and plasma cells.

Clonal cytogenetic abnormalities in bone marrow specimens without clear morphologic evidence of dysplasia: a form fruste of myelodysplasia?

Cytogenetic abnormalities suggestive of a myeloid disorder are occasionally observed in the bone marrow (BM) cells of patients with morphologically and immunohistochemically unremarkable marrow aspirates and biopsies. Between 1994 and 2000, 55 such patients were seen at our institution (34 men; median age of 66 years). The indications for BM sampling included unexplained cytopenias (31 patients), staging or follow-up of a lymphoproliferative disorder or a plasma cell dyscrasia (18 patients), or another miscellaneous reason (6 patients).

Primary myelodysplastic syndrome with normal cytogenetics: utility of 'FISH panel testing' and M-FISH.

The myelodysplastic syndromes (MDS) are a clinically heterogeneous group of hematologic disorders. Cytogenetic analysis is crucial as it can provide both diagnostic and prognostic information. Herein, 32 cytogenetically normal patients with primary MDS were analyzed both by multiple FISH probes on interphase nuclei (FISH panel testing) and by M-FISH (metaphase nuclei).