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Acute leukemia of megakaryocyte lineage with tumor formation. An autopsy case of patient with Down's syndrome.

In this report we present the autopsy findings of acute megakaryoblastic leukemia with tumor formation in a 2-year-old female infant with Down's syndrome. Chromosomal analysis of blast cells revealed constitutional anomaly of trisomy 21 and two other related types of abnormal clones. Flow cytometric examination revealed blast cells expressing Ia-like or HLA-DR antigens. Postmortem examination showed extensive infiltration of leukemic cells in most of the examined organs, including the bone marrow with myelofibrosis. Tumor masses in the maxillary, frontal and femoral bones and the atria of the heart had undergone massive infiltration of atypical blast cells with an increase in the reticulin network. The final diagnosis was confirmed by ultrastructural cytochemistry of the platelet peroxidase reaction as well as by immunological staining utilizing anti-platelet glycoprotein IIb/IIIa, antiplatelet factor 4 and anti-beta-thromboglobulin antibodies for the blast cells. It seems likely that platelet-derived growth factor, secondary to an increase in the reticulin network, plays a major role in myelofibrosis of acute megakaryoblastic leukemia with tumor formation.

Acute Disease↗

Large histiocytes in the choroid of leukemic patients.

We identified large histiocytes as a prominent feature in the choroid of eyes obtained at autopsy in seven of nine patients who died of leukemia. The eyes of four of the seven patients affected had leukemic choroidal infiltrates, and a majority had similar-appearing histiocytes identified in spleen or bone marrow. The significance of these cells is undetermined; we postulate that these macrophages are ingesting debris of degenerating leukemic cells.

Choroid↗

Acute renal failure associated with the retinoic acid syndrome in acute promyelocytic leukemia.

All-trans-retinoic acid is an effective agent to induce remission in patients with acute promyelocytic leukemia (APL). Unlike conventional chemotherapy, this drug exerts its effect by inducing differentiation of immature leukemic cells. A distinctive clinical syndrome characterized by fever, dyspnea, effusions, weight gain, and organ failure (the "retinoic acid syndrome") can occur during treatment with this drug. Postmortem studies have shown extensive organ infiltration by leukemic cells, and the early administration of corticosteroids can result in prompt resolution of symptoms. We describe a patient with APL in whom acute renal failure developed during treatment with all-trans-retinoic acid. Transient renal enlargement during a period of leukocytosis and a beneficial response to treatment with dexamethasone suggest that renal failure in this patient was probably related to the retinoic acid syndrome.

Acute Kidney Injury↗

[Recurrent spontaneous regression of aleukemic leukemia cutis in a girl with acute monocytic leukemia].

Aleukemic leukemia cutis is a rare form of leukemia manifestation, defined as a skin infiltration of leukemic cells with no evidence of leukemia in the bone marrow. A 4-month-old girl was referred to our hospital because of exanthema that appeared and regressed repeatedly. Histological examination revealed partial infiltration of histiocytic cells in the skin lesion. However, the diagnosis could not be made at that time. At 9 and at 13 months old, appearances of exanthema similar to the previous time were combined with systemic fever, abnormal coagulation tests, and the marked increases of atypical lymphocytes in peripheral blood: however, these symptoms resolved spontaneously. At 14 months old, deterioration of the exanthema and an increase in the peripheral leukocyte counts were observed. Bone marrow aspiration revealed the predominance of monocytic blasts (76.4%), and the patient was diagnosed as having acute monocytic leukemia (M5b) with leukemia cutis. Complete remission was obtained with standard chemotherapy. Six months after the therapy was completed, an extramedullary relapse occurred in the inguinal lymph nodes, which was successfully treated with allogeneic bone marrow transplantation from an HLA-matched unrelated donor, and the patient has been free of disease for two years after the transplantation.

Bone Marrow Transplantation↗

Chronic lymphocytic leukaemia skin infiltrates affecting prominent parts of the face and the scalp.

Chronic lymphocytic leukaemia (CLL) infiltrating the skin is uncommon and can present in different forms. We report a case of CLL infiltrating the prominent parts of the face and the scalp. A 63-year-old male with a 10-year history of CLL presented with plum-coloured swelling of the skin of the ears, eyebrows, tip of the nose and the scalp. Histopathology showed dense sheets of lymphoid infiltrate of the dermis which stained positive with B-cell markers CD20 and CD5 in keeping with the infiltrate of CLL.

Eyebrows↗

Unilateral testicular mass in man with chronic myelomonocytic leukemia: unusual presentation of chronic myelomonocytic leukemia sequela.

Extramedullary myeloid cell tumors are discrete tissue infiltrations by leukemic cells of myeloid lineage. They are more commonly associated with relapsing acute myelogenous leukemia but can occur in myeloproliferative/myelodysplastic leukemia, usually associated with disease acceleration. Although they can occur in any organ, reported testicular infiltration is rare. We describe the clinical presentation of an extramedullary myeloid cell tumor as a unilateral testicular mass in a man with known chronic myelomonocytic leukemia and its histologic diagnosis. To our knowledge, this manner of presentation is unique in this clinical context.

Aged↗

Prominent intrasinusoidal infiltration of the bone marrow by mantle cell lymphoma.

Intrasinusoidal infiltration of bone marrow (BM) may accompany several malignant lymphoproliferative disorders. In small B-cell lymphomas, this pattern is considered specific for splenic marginal zone lymphoma (SMZL) when exclusive or prominent, although it may occur in other subtypes of non-Hodgkin's lymphomas (NHLs) as a minor feature. Here we report 2 cases of mantle cell lymphoma (MCL) with a prominent intrasinusoidal BM infiltration pattern. Both patients presented with massive splenomegaly and peripheral blood involvement characterized by markedly atypical lymphocytes, but no lymphadenopathy. The cytological features and the phenotype of the lymphoma cells were diagnostic of MCL. The malignant B cells showed coexpression of B-cell markers (CD20+ and CD79a+), CD5 antigen, and cyclin D1 by immunohistochemistry. We discuss the specificity of an intrasinusoidal growth pattern in the bone marrow, emphasizing the importance of using a broader immunohistochemical panel in the differential diagnosis of intrasinusoidal BM infiltration by NHL.

Aged↗

Chronic lymphocytic leukaemia with cerebral infiltration.

Central nervous system (CNS) involvement is an extremely rare complication of chronic lymphocytic leukaemia (CLL). This report describes a case of stable, early stage CLL who developed histologically documented cerebral infiltration two years after the diagnosis and responded to cranial radiotherapy.

Central Nervous System↗

[Long survival of a patient presented with blastic crisis of chronic myelomonocytic leukemia].

A 77-year-old man was diagnosed as having acute myelomonocytic leukemia (M4) with increased ringed sideroblasts in the bone marrow (BM) in October, 1979. Complete remission was achieved and ringed sideroblasts disappeared after two courses of CMP (cytarabine, 6-mercaptopurine, prednisolone) therapy. Following remission, there was no increase of blasts during the course of the disease, but monocytosis and dysmyelopoiesis persisted for about seven years. The monocytosis was controlled by 6-mercaptopurine. In June, 1986, however, monocytosis in peripheral blood (PB) and BM developed again, and there was severe pancytopenia and reappearance of ringed sideroblasts without increase of blasts. The patient died of pneumonia on September, 1986. Postmortem examination revealed hypercellular marrow with a few blasts, leukemic cell infiltration into spleen, liver and lymph nodes, ad lung cancer. His clinical and hematological features after remission of acute leukemia accorded with those of CMMoL. The dysmyelopoiesis observed in this case in not induced by anti-leukemic agents, but originated from the same clone as the initial AMMoL, and his disease was thought to be CMMoL converted from blastic crisis to chronic phase.

Aged↗