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Biomedical subjects

C H Dunphy

Publications and source records attributed to C H Dunphy.

At least 37 records · Page 2Linked to original sources

Biphenotypic hematological malignancy with T-lymphoid and myeloid differentiation: association with t(3;12)(p25;q24.3). Case report and review of the literature.

Biphenotypic hematological malignancies of T-lymphoid and myeloid differentiation are relatively rare and have most commonly been associated with t(8;13). However, this entity is invariably associated with eosinophilia and generally progresses to acute leukemia within a year of diagnosis. We describe a case of a biphenotypic hematological malignancy with T-lymphoid and myeloid differentiation without associated eosinophilia; however, there was an association with t(3;12)(p25;q24.3) as a sole abnormality and progression to acute leukemia within 10 months of presentation. This association with such a malignancy has not previously been described. Additional cases need to be accrued to determine the prognostic significance and clinical implications of such an association.

Biomarkers, Tumor↗

Jumping translocations of 3q in acute promyelocytic leukemia.

Jumping translocation is a rare phenomenon, seldom reported to occur in cancer. A complex four-way translocation involving chromosomes 3, 9, 15, and 17 was identified in the chromosome study on a patient with a history of an acute promyelocytic leukemia (APL). In the follow-up studies, the same complex rearrangement exhibited a jumping translocation between chromosomes 3 and 9 in one clone and 3 and 6 in another clone. This is the first reported case of jumping translocation in APL.

Chromosome Banding↗

Natural killer cell lymphoma of the small intestine: diagnosis by flow cytometric immunophenotyping of paracentesis fluid.

Natural killer (NK) cell lymphoma is a mass-forming neoplasm of putative NK cell lineage that typically appears in extranodal locations and has the following immunophenotype: CD2 positive, surface CD3 negative, cytoplasmic CD3 positive, and CD56 positive. We report a case of small-intestinal NK cell lymphoma that was originally diagnosed as an enteropathy-associated T-cell lymphoma based on paraffin immunohistochemistry. However, subsequent flow cytometric immunophenotyping of paracentesis fluid resulted in the correct diagnosis. We describe the case to illustrate the usefulness of this technique, which has not previously been described in such a case.

Adult↗

Comprehensive review of adult acute myelogenous leukemia: cytomorphological, enzyme cytochemical, flow cytometric immunophenotypic, and cytogenetic findings.

This study reports findings from a retrospective, comprehensive review of 80 cases of adult AML in regard to cytomorphology, enzyme cytochemistry (EC), flow cytometric immunophenotyping (FCI), and chromosomal analysis. From this review, we conclude that diagnostically challenging cases can only be subtyped by combining the cytomorphology with EC, FCI, and subsequent cytogenetic results. This is particularly true in recognizing the hypogranular variant of AML,M3 (AML, M3m) and distinguishing it from other subtypes. Nonlineage expression of markers (CD1, CD2, CD4, CD5, CD7, and CD56) was nonspecific as to AML subtype. Of interest, CD2 coexpression in acute myelomonocytic leukemia with eosinophilia (M4-Eo) was exclusively associated with inversion of chromosome 16 (inv 16) and was not observed in the other M4-Eo's without inv16. We also recognized a previously undescribed M3m with CD56 coexpression, heightening awareness of this entity which needs to be distinguished from the unique subtype of CD56+ AML with otherwise similar immunophenotypic and morphologic characteristics. In addition, nonlineage expression of CD19 alone was exclusively associated with the cytogenetic finding of t (8;21) (q22; q22) and thus may represent a favorable prognostic indicator by FCI.

Adult↗

Blastic mantle cell leukemia: a previously undescribed form.

The leukemic phase of mantle cell lymphoma (mantle cell leukemia) is defined as an absolute lymphocyte count of greater than 4,000/microliter and characterized by the presence of relatively small, slightly irregular lymphocytes in the peripheral blood. Although a variant of mantle cell lymphoma with blastic morphsology exists and has been previously well described, a blastic morphologic variant of mantle cell leukemia has not been described. We report such a case in a 74-year-old male who presented with splenic rupture and an elevated white blood cell (WBC) count. The diagnosis was based on flow cytometric immunophenotyping and the cytomorphology of the peripheral blood.

Acute Disease↗

Flow cytometric immunophenotyping of bone marrow core biopsies: report of 8 patients with previously undiagnosed hematologic malignancy and failed bone marrow aspiration.

OBJECTIVE: To report a method for flow cytometric immunophenotyping (FCI) bone marrow (BM) core biopsies in patients with hematologic malignancies of the BM who present with a failed BM aspiration ("dry tap"). DESIGN AND SETTING: Core biopsy specimens of BM were obtained from 8 patients who presented with previously undiagnosed hematologic malignancies arising in (7 cases) or secondarily involving (1 case) the BM and a dry tap. Suspensions of the BM core biopsy specimens were prepared and analyzed by FCI methods. DATA EXTRACTION AND DATA SYNTHESIS: The FCI data were analyzed in conjunction with cytomorphologic, histologic, immunohistochemical, and cytogenetic findings in all cases to determine a final diagnosis. CONCLUSIONS: The prepared BM core suspensions were viable and allowed for a complete immunophenotype profile by FCI in all cases, resulting in a clear definition of the cell of origin of the hematologic malignancy. Because of lack of preservation of architectural features and the potential for artifactual alterations of the relative frequency of abnormal cells, the FCI data must always be correlated with histologic sections of the BM biopsy.

Adult↗

Extramedullary tumor of monoblasts in the central nervous system: presenting feature of simultaneous bone marrow involvement by acute monocytic leukemia.

An extramedullary tumor of monoblasts in the central nervous system has been described in the literature as a single case report, preceding the development of acute monocytic leukemia by 1 year. We report a previously undescribed presentation of acute monocytic leukemia as a left temporal lobe extra-axial mass with concomitant bone marrow involvement. We describe our findings in order to heighten awareness of this entity, which may be encountered in morphologic evaluation of central nervous system masses.

Brain Neoplasms↗

Primary cutaneous T-cell-rich B-cell lymphomas with flow cytometric immunophenotypic findings. Report of 3 cases and review of the literature.

BACKGROUND: Primary cutaneous T-cell-rich B-cell lymphoma is a relatively rare entity that has been diagnosed most commonly using immunohistochemical and molecular techniques. Flow cytometric immunophenotyping (FCI) has not been described in this entity. We report the demonstration of B-cell monoclonality by FCI in 3 cases of primary cutaneous T-cell-rich B-cell lymphoma. METHODS: Clinical and pathologic data were recorded for 3 cases of primary cutaneous T-cell-rich B-cell lymphoma. Immunohistochemical and FCI data were available in all cases; DNA analysis was performed in 1 case. RESULTS: Flow cytometric immunophenotyping revealed a monoclonal B-cell population exclusively in the monocyte (large cell) region in all 3 cases. Immunohistochemistry confirmed the T-cell richness of the infiltrates within the cutaneous lymphomas; T cells accounted for 65% to greater than 90% of the cells within the infiltrates. DNA analysis by polymerase chain reaction in 1 case did not demonstrate a monoclonal rearrangement of the immunoglobulin heavy-chain gene. CONCLUSIONS: Flow cytometric immunophenotyping in primary cutaneous T-cell-rich B-cell lymphoma may be useful in demonstrating monoclonality in these cases, especially if there is selective gating on the relatively small population of cells in the large cell region. The FCI data should be correlated with histology and immunohistochemistry.

Adult↗

An otherwise typical case of non-Japanese hairy cell leukemia with CD10 and CDw75 expression: response to cladaribine phosphate therapy.

Hairy cell leukemia (HCL) in Western patients typically expresses CD19, CD20, CD11c, CD25, HLA-DR, and IgG/lambda and lacks expression of CD5 and CD10. The immunophenotype is in contrast to Japanese HCL which typically expresses CD5 and CD10. Western and Japanese HCL also differ in their clinical presentation and response to treatment with alpha-interferon. We report a case of non-Japanese HCL which presented typically with pancytopenia; however, the immunophenotype was atypical with expression of CD10 and CDw75. CDw75 expression has not previously been described in either Japanese or non-Japanese HCL. The patient achieved a marked partial pathologic response and complete clinical response to treatment with cladaribine phosphate.

Antigens, CD↗

A clinically aggressive, polymorphic, polyclonal posttransplantation lymphoproliferative disorder.

Posttransplantation lymphoproliferative disorders (PTLD) have been divided, based on morphology, into polymorphic and monomorphic types, since findings in the literature reveal that polymorphic PTLD more likely responds to reduced immunosuppression. We report a clinically aggressive, polymorphic (and polyclonal) PTLD despite reduced immunosuppression and discuss possible therapeutic options. In addition, our case suggests that cytogenetic studies may be useful in determining prognosis when DNA molecular techniques do not detect monoclonality.

Aneuploidy↗

Lymphocyte-depleted Hodgkin's disease: diagnostic challenges by fine-needle aspiration.

The diagnosis of Hodgkin's disease by fine-needle aspiration (FNA) can be problematic. A case of Hodgkin's disease, lymphocyte depleted subtype, sample by FNA biopsy is presented. We describe the cytomorphologic features present in this unusual subtype of Hodgkin's disease and discuss the differential diagnosis. Immunohistochemical and morphologic findings of a subsequent biopsy specimen supported the diagnosis. Although FNA is an increasingly used diagnostic modality to evaluate tumors including malignant lymphomas, Hodgkin's disease remains, as in this case, a difficult diagnosis by FNA.

Axilla↗

Secondary pleural involvement by an AIDS-related anaplastic large cell (CD30+) lymphoma simulating metastatic adenocarcinoma.

We report a patient with acquired immunodeficiency syndrome with secondary pleural and pulmonary involvement by a CD30+ anaplastic large cell lymphoma (ALCL) that morphologically simulated metastatic adenocarcinoma. We describe the morphologic findings in order to heighten awareness that CD30+ ALCL may mimic metastatic adenocarcinoma in a body fluid or bronchial brushing and should be considered in the differential diagnosis. Primary body cavity based (PCBC) AIDS-related lymphoma is a relatively newly described disease entity with morphologic features bridging ALCL and large cell immunoblastic lymphoma with a CD30+ null immunophenotype. A morphology mimicking adenocarcinoma has not been previously described in this entity but should be considered in a patient with AIDS presenting exclusively with a serous effusion. Appropriate immunoperoxidase staining should aid in these differential diagnoses.

Adenocarcinoma↗

Flow cytometric findings in the floral variant of follicular lymphoma.

The floral variant of follicular lymphoma (FL-F) is an unusual variant of follicular lymphoma. The malignant "follicles" have an unusual "floral" appearance due to the proliferation of surrounding and infiltrating small lymphocytes. This variant of malignant lymphoma has been supported by immunohistochemical immunophenotyping and gene-rearrangement studies; however, the flow cytometric findings have not previously been described. We report the flow cytometric findings in two cases of FL-F. The surrounding and infiltrating small lymphocytes represented mantle cells which, in one case, obscured monoclonality in the lymphocyte region. The monoclonal B-cells were CD10+, supporting a follicular center cell origin.

Aged↗

Identification of CD56 and CD57 by flow cytometry in Ewing's sarcoma or primitive neuroectodermal tumor.

CD56 and CD57 are commonly considered as natural killer and neuroectodermal markers, but their expression has been identified in a wide spectrum of neoplasms including some cases of Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET). We report two cases of small, round blue cell tumor (SRBCT), in which flow cytometry immunophenotyping (FCI) detected strong expression of CD56 and CD57 (one case). Immunohistochemical staining with Leu-19 and Leu-7 confirmed the FI results. Although CD56 and CD57 expression is consistent with ES/PNET, it can be potentially misleading if results of FCI are interpreted in the absence of other findings. These cases suggest the utility of FCI in undifferentiated SRBCT. The literature on CD56 and CD57 expression in ES/PNET is reviewed and discussed.

Adolescent↗

Combining morphology and flow cytometric immunophenotyping to evaluate bone marrow specimens for B-cell malignant neoplasms.

For this study, 188 bone marrow core biopsy specimens and aspirates analyzed morphologically and by flow cytometric immunophenotyping (FCI) in patients with a previous or new diagnosis of B-cell non-Hodgkin's lymphoma or mature B-cell leukemia were retrospectively reviewed to evaluate patterns of involvement and the usefulness of FCI. The morphologic and FCI results were categorized as follows: positive by morphologic examination and by FCI (39.9%); negative by morphologic examination and by FCI (41.5%); positive by morphologic examination and negative by FCI (11.7%); negative by morphologic examination and positive by FCI (2.6%); suggestive of malignant neoplasm by morphologic examination and positive by FCI (2.1%); and suggestive of malignant neoplasm by morphologic examination and negative by FCI (2.1%). Thus, in 81.4% of cases the morphologic and FCI findings were completely concordant. In 11.7% of cases, the morphologic examination alone detected involvement, and in 4.7% of cases, the FCI data detected involvement in a morphologically negative or "suggestive" bone marrow core. Combining these modalities is essential to evaluate bone marrow specimens for involvement by B-cell non-Hodgkin's lymphoma or B-cell leukemia.

Antibodies, Monoclonal↗

Incidental early detection of a splenic marginal zone lymphoma by polymerase chain reaction analysis of paraffin-embedded tissue.

Splenic marginal zone lymphoma (SMZL) most commonly presents with splenomegaly and stage IV disease. To our knowledge, there have been only two reported cases of SMZL without associated splenomegaly; one was detected incidentally after a bicycle accident. This previously reported case represented an early-stage SMZL with monoclonality confirmed by immunohistochemistry. We report a case of early-stage SMZL detected incidentally following a motor vehicle accident; monoclonality was confirmed by polymerase chain reaction analysis of paraffin-embedded tissue owing to the inability of confirmation by immunohistochemical techniques. We describe our findings and emphasize the importance of recognizing early stages of SMZL in incidental splenectomies by polymerase chain reaction analysis of paraffin-embedded tissue. Frozen tissue is not generally available in such cases.

Accidents, Traffic↗

Follicular center cell lymphoma with an extremely high content of T cells: case report with useful diagnostic techniques.

Follicular center cell lymphomas often contain a prominent population of T cells, most commonly in the interfollicular regions and with a helper immunophenotype. We report a case of follicular center cell lymphoma (follicular, mixed cell types) with a prominent population of T cells (normal CD4-CD8 ratio) in both the interfollicular and follicular regions. The prominent T-cell population resulted in misleading flow cytometric immunophenotypic findings. Immunoperoxidase stains (L-26, LN-2, and Bcl-2) confirmed the neoplastic follicular center cell origin and aided in subclassification.

Female↗

Leukemic phase of mantle cell lymphoma presenting as anemia: diagnosis by combining flow cytometry and cytomorphology.

We report a case of mantle cell lymphoma in leukemic phase, which was diagnosed by a bone marrow biopsy performed as part of a workup for chronic anemia in a patient without lymphadenopathy. The patient, a 79-year-old man with diabetes mellitus, hypertension, chronic renal failure, congestive heart failure, and atherosclerosis, presented with claudication. On admission, he also had an 8-month history of anemia, during which time he experienced a 18-kg weight loss. On presentation, the patient had normal vital signs, anemia, leukocytosis (as well as an absolute lymphocytosis), and splenomegaly; as mentioned, lymphadenopathy was absent. A bone marrow biopsy showed an increase in small to intermediate-sized, slightly irregular lymphocytes in interstitial nodules. Flow cytometric immunophenotyping of the bone marrow identified a monoclonal population of cells, representing 25% of cells within the bone marrow, with expression of CD19, CD20, immunoglobulin M/D, lambda light chain, HLA-DR, and CD5; reactions for CD10 and CD23 were absent. Based on morphologic and immunophenotypic analysis of the bone marrow, as well as morphologic review of the peripheral blood smear, a diagnosis of mantle cell lymphoma involving the bone marrow and in leukemic phase was made. Subsequent polymerase chain reaction analysis of DNA from peripheral blood identified a population of cells with the bcl-1 rearrangement. This case is unique in that the diagnosis of mantle cell lymphoma was made without lymph node or spleen analysis and the patient, although exhibiting bone marrow and peripheral blood involvement by mantle cell lymphoma at presentation, did not have lymphadenopathy.

Aged↗