Co-occurrence of t(8;21)(q22;q22) and t(9;22)(q34;q11) in a case with chronic myelogenous leukemia / 中华医学遗传学杂志

OBJECTIVE@#To delineate laboratory and clinical characteristics of a case with chronic myelogenous leukemia (CML) and co-occurrence of t(9;22)(q34;q11) and t(8;21)(q22;q22).@*METHODS@#The patient was subjected to cytogenetic, molecular, morphological and immunophenotypic analyses.@*RESULTS@#Cytogenetic analysis revealed presence of t(8;21)(q22;q22) in addition to t(9;22)(q34;q11) in the patient. Chimeric BCR/ABL and AML1/ETO genes were detected by fluorescence in situ hybridization (FISH). Transcripts of BCR/ABL210 and AML1/ETO fusion genes were detected by relative quantity PCR. Morphological study suggested that the patient was at the chronic phase of CML. No significant immunophenotypic abnormality was detected by flow cytometry.@*CONCLUSION@#Co-occurrence of t(8;21)(q22;q22) and t(9;22)(q34;q11) is rare in CML. Only 5 similar cases have been described previously. This case suggested that chromosomal alterations may precede morphological, flow cytometric and clinical changes and accelerate progression of the disease.

Clinical characteristics of high-grade B-cell lymphomas with rearrangement of MYC, bcl-6 and bcl-2 / 中华病理学杂志

Objective@#To investigate the clinicopathologic features of patients with high-grade B-cell lymphomas (HGBL) that have rearrangements of MYC, bcl-6 and bcl-2.@*Methods@#One hundred and fifty-eight B-cell lymphomas patients from Institute of Hematology and Blood Diseases Hospital from January 2016 to April 2017 were detected by fluorescence in situ hybridization (FISH) with double color split-apart probes.@*Results@#Among 158 B-cell lymphomas, 3 cases with MYC, bcl-2 and bcl-6 rearrangements were identified, 1 of which also had CCND1/IgH translocation. All three patients were of older age, with poor prognostic parameters, multiple organs involvements, elevated LDH and advanced-tumor stage. Two of the three patients were treated with high-intensity chemotherapy and had no remission with an overall survival of 9 months and 11 months respectively. One patient had follow-up with no treatment. Histologically, all three cases showed a spectrum of morphologic features. Although initially categorized as lymphoblastic lymphoma, diffuse large lymphoma and mantle cell lymphoma respectively, two cases were associated with germinal center B-cell (GCB) immunophenotype and 1 case with non-GCB immunophenotype. They had a high proliferation index as assessed by immunostaining for Ki-67 (60%-90%).@*Conclusions@#MYC+ bcl-2+ bcl-6+ HGBL is an aggressive disease with multiple organ involvement, high serum LDH levels, advanced stage disease, poor prognosis and shorter patient survival. The diagnosis should be made by histopathology combined with FISH analysis. Its separation from other types of B cell large cell lymphoma is of clinical importance.

Clinicopathologic characteristics of plasma cell myeloma with marrow fibrosis / 中华病理学杂志

Objective@#To study the clinicopathologic features of plasma cell myeloma(PCM) with bone marrow fibrosis (MF).@*Methods@#The clinicopathologic data of 175 cases of newly diagnosed PCM patients were retrospectively analyzed. Based on reticular fiber staining, these cases were divided into PCM-MF and non-PCM-MF groups.@*Results@#Sixty-three cases were PCM-MF(36%), 112 were non-PCM-MF (64%). No statistical difference in gender, age, hemoglobin level, platelet counts, the classification of immunoglobulin, ISS staging, immunohistochemical phenotypes and genetic features was found between PCM-MF and non-PCM-MF groups (P>0.05). Compared to non-PCM-MF group, lactate dehydrogenase (LDH)level and renal impairmentrate were higher in PCM-MF group (P<0.05). The degree of bone marrow hyperplasia, the percentage of myeloma cells and cells with plasmablastic morphology were significantly higher in PCM-MF group(P<0.05).@*Conclusion@#The higher LDH level, renal impairment rate, and more significant bone marrow hyperplasia, proliferation of plasma cells and plasmablastic myeloma cells infiltration indicate poor prognosis of PCM-MF patients.

Pathological diagnosis of pediatric Burkitt lymphoma involving bone marrow / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate pathologic and differential diagnostic features of pediatric Burkitt lymphoma (BL).</p><p><b>METHODS</b>A total of 20 cases of pediatric BL were retrospectively reviewed for their clinical and pathologic profiles. Bone marrow aspiration specimens were available in all cases and bone marrow biopsies were available for immunohistochemical study in 18 cases. Flow cytometry study was available in 16 cases. MYC translocation by FISH method was performed in 11 cases.</p><p><b>RESULTS</b>Atypical lymphocytes with cytoplasmic vacuoles were found in bone marrow smears in all 20 cases and peripheral blood films in all 19 available cases. The bone marrow biopsies showed infiltration by uniform medium-sized atypical lymphocytes with multiple small nucleoli but without the starry-sky pattern in all 18 cases. Immunohistochemistry showed the following results in all 18 cases: positive for CD20, PAX-5, CD10, CD34 and TdT, but negative for bcl-2 and CD3 with Ki-67 > 95%.Flow cytometry showed CD19+CD20+CD10+FMC7+CD22+TdT-CD3- in 16 cases, including κ+ in 8 cases, λ+ in 7 cases, and κ-λ- in 1 case. MYC gene rearrangement by FISH was observed in 10 of the 11 cases.</p><p><b>CONCLUSIONS</b>The histopathology of BL is distinct, including atypical lymphocytes with cytoplasmic vacuoles in bone marrow aspirate, lack of starry-sky patternin bone marrow biopsy. Generally, the diagnosis should be made with a combined immunophenotype and FISH approach. Pediatric BL must be distinguished from DLBCL and B-cell lymphoma, unclassifiable, which has intermediate features between DLBCL and Burkitt lymphoma.</p>

The clinic and pathologic significance of plasma cell myeloma with CCND1 / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the clinical and pathologic features of multiple myeloma(MM) with CCND1.</p><p><b>METHODS</b>Retrospectively analyzed the clinical and pathologic profiles of 158 patients with MM from 2010 to 2013. The clinical and morphologic features of bone marrow aspiration, biopsy and immunophenotypic analysis which was carried out by flow cytometry and immunohistochemistry were analyzed in all patients with MM respectively. CCND1 translocation was studied by FISH method in all cases. Classical cytogenetic studies of bone marrow were performed in 24 cases whose CCND1 was positive.</p><p><b>RESULTS</b>In the 158 patients with MM, CCND1 was detected in 31 patients (19.6%）. In 31 patients, type IgA, IgD, IgG, IgM, light-chain only and nonsecretory MM were 4 cases,4 cases,11 cases,1 case, 6 cases and 5 cases respectively. A high incidence of CCND1 was observed in IgD and nonsecretory MM comparied with IgA and IgG respectively (P<0.05). but no statistical significance was reached between κ and λ type patients (P=0.627). The morphology of plasma cell in bone marrow biopsies were small Lymphocyte- Like 24 cases,mature plasma cell 6 cases and immature plasma cell 1 case. Immunophenotype of all 31 cases was CD38⁺CD138⁺CD19⁻CD45⁻, (CD56⁺ in 11 cases, CD20⁺ in 9 cases, CD117⁺ in 3 cases. MM with CCND1 showed a strong association with CD20 expression, the lack of CD56 expression. Immunohistochemistry showed positive for cyclinD1 in 22 cases.</p><p><b>CONCLUSION</b>A high incidence of CCND1 was detected in the IgD and nonsecretory MM, and correlated with Small Lymphocyte- Like, higher positive rate of CD20, cyclinD1 and the lack of CD56 expression. MM with CCND1 must be distinguished from LPL and other mature B cell lymphomas which have plasmacytoid differentiation.</p>

Primary bone marrow diffuse large B cell lymphoma: three case reports and literature review / 中华血液学杂志

<p><b>OBJECTIVE</b>To report the diagnosis, differential diagnosis and treatment of three rare cases of primary bone marrow diffuse large B cell lymphoma (DLBCL), and to improve the recognition of this disease.</p><p><b>METHODS</b>The clinical characteristics, therapeutic course and the outcome of these patients were reviewed. Meanwhile, a series of examinations including morphology, flow cytometry, immunohistochemistry and molecular biology of bone marrow samples were also performed.</p><p><b>RESULTS</b>These three patients who were old at the onset age (56, 60 and 70 years old), primarily revealed as abnormal blood count and experienced an aggressive course of disease. Physical and imaging examination showed no enlargement of lymph node, liver and spleen, the patients were finally diagnosed as primary bone marrow DLBCL by bone marrow morphology, flow cytometry and immunohistochemistry analyses. They were treated with rituximab combined chemotherapy, which achieved a complete response, but still need longer follow-up to further evaluate their survival.</p><p><b>CONCLUSION</b>Primary bone marrow DLBCL was encountered rarely in clinical practice, and this is the first report in China. Further investigation of pathogenesis and therapeutic strategies of this rare disease was warranted.</p>

Bone marrow pathologic features and differentiation of Waldenstr(o)m macroglobulinemia / 白血病·淋巴瘤

Objective To explore the bone marrow pathology ,diagnosis and differential diagnosis of Waldenstrom macroglobulinemia(WM). Methods 19 WM patients was examined by bone marrow aspiration (BMA) and bone marrow biopsy (BMB) for morphology. Flow cytometry (FCM) and immunohistochemistry (IHC) for immunophenotyping. Results Plasmacytoid lymphocytes were identified in 11 BMA. All of 19 BMB were involved by lymphoma cells. 17 cases showed a predominance of small lymphocytes and 2 of plasmacytoid lymphocytes. Typically plasmacytoid lymphocytes were not seen in 4 cases. Patterns of bone marrow involvement were as follow: diffuse (12 cases), nodular (4 cases), interstitial (3 cases). Immunophenotypically, FCM showed all cases were CD_(19)~+, CD_(20)~+, CD_(22)~+, CD_5~- and CD_(10)~-. IHC revealed small lymphocytes and plasmacytoid lymphocytes were Pax5~+ CD_(20)~+ and plasma cells were CD_(38) CD_(138)~+ CD_(20)~- Pax5~-. Conclusion Small lymphocytes proliferation with plasmacytic differentiation is the typical bone marrow pathologic features of WM. IHC is benefit for identifying lymphocytes and plasma cells components. The Combination of morphology, FCM and IHC is contributive to the diagnosis and differentiation of WM.