Philadelphia chromosome in human multiple myeloma.

Four patients with multiple myeloma in whom a Ph1 chromosome was found were described; 1 patient had a (9;22) translocation, 2 had no evidence of a translocation, and 1 had a complex translocation (3;8;22). Ph1 chromosomes with standard (9;22) or with unusual translocations were recently found in various myeloproliferative disorders (other than chronic myelogenous leukemia) and in acute lymphoblastic leukemia. These findings point to the genesis of a Ph1 chromosome in diseases other than chronic myelogenous leukemia and other myeloproliferative disorders.

Adult T-cell leukemia: a report on two white patients.

Two white European males are reported with adult T-cell leukemia (ATL), a disease first described in Japan, but recently also in the U.K. and U.S.A. Both patients presented with lymphadenopathy, but without a mediastinal mass. In addition, one patient had skin infiltrates and the other had hepatosplenomegaly. Morphologic and ultrastructural examination of the blasts in bone marrow and lymph node biopsy revealed a predominance of polymorphic lymphoid cells with pronounced nuclear irregularities and a semi-mature chromatine pattern. Histopathology of the lymph nodes showed a diffuse infiltration with medium-sized lymphoblasts with irregular nuclei. The blasts in the bone marrow formed E rosettes with sheep erythrocytes, lacked terminal deoxynucleotidyl transferase (Tdt) activity but expressed the Ia-like antigen; although the majority of the cells reacted with a polyclonal anti-T-cell serum, they were negative for OKT3. In one patient a helper/inducer phenotype (OKT4+) was found in the lymphoblasts of bone marrow and lymph node, while in the other only in the lymph node. The difference between bone marrow and lymph node phenotype is discussed. To our knowledge, these are the first two European patients reported with ATL, a disease clearly different from convoluted T-cell acute lymphocytic leukemia.

Acute nonlymphoblastic leukemia with bone marrow eosinophilia and structural anomaly of chromosome 16.

A patient with acute myelocytic leukemia in relapse presented with t(16;21) (p12;q22). Hematologic studies revealed a large number of abnormal eosinophils in the bone marrow. The complexity of chromosome #16 rearrangements associated with acute nonlymphocytic leukemia and the possible significance of chromosomes #16 and #21 in relation to the concomitant eosinophilia are briefly discussed.

Pentasomy 21 characterizing spontaneously regressing congenital acute leukemia.

Pentasomy 21 was found to characterize the proliferating cells in a case of transient congenital acute leukemia (or congenital acute leukemia) with spontaneous remission. The patient was phenotypically normal, and cytogenetically no evidence could be found for the existence of a mosaic with a normal cell line and one with more than two No 21 chromosomes. The importance of these findings is discussed.

5q- anomaly in a patient with disseminated teratoma.

A 5q- anomaly associated with other chromosome anomalies was found in the infiltrated bone marrow of a patient with a highly malignant teratoma originally located in the mediastinum. There was no evidence of a second malignancy, and it is likely that the 5q- anomaly was, indeed, associated with the malignant teratoma cells.

Translocation t(3;17)(q26;q22): a marker of acute disease in myeloproliferative disorders?

A new reciprocal translocation, t(3;17)(q26;q22), has been observed in three patients with myeloproliferative disease. The t(3;17) seems to be associated with acceleration of the disorder, thus adding further evidence to a relationship between 17q22 rearrangements and acute myeloproliferation .

8;21 Translocation in acute myeloid leukemia. An ultrastructural study.

An ultrastructural study was performed in four patients with acute myeloid leukemia (AML) and 8;21 translocation. The most prominent pathologic features of the leukemic cells were: (1) a high frequency of nuclear blebs, which have been associated with an aneuploid karyotype; (2) nucleocytoplasmic asynchrony in early myeloid precursors, mature polymorphonuclear leucocytes (PMN) and in megakaryocytes; (3) abnormal granule formation with the presence of Auer rods, giant granules (pseudoChediak-Higashy) containing small vesicles, primary granules, and rod-like structures; absence of secondary granules in the more mature myeloid cells and the presence of hypogranular forms; (4) the presence of "labyrinths" consisting of myeloperoxidase (MPO) negative circular tubuli, interwoven with MPO positive endoplasmic reticulum; (5) the lack of hiatus leukemicus. Although none of these features separately is pathognomonic for 8;21 AML, we can conclude that the combination of these ultrastructural findings characterizes the leukemic myeloid cells of patients with 8;21 translocation in AML.

Sudan Black B positivity in acute lymphoblastic leukaemia.

An adult patient with Sudan Black B (SB B) positive leukaemic lymphoblasts is described. Peroxidase and naphtol AS D chloroacetate esterase stains were negative. The diagnosis of acute lymphoblastic leukaemia (ALL) was based on morphology (FAB classification: L1), on immunological marker studies (cALL+, Tdt+, Ia+) and on electron microscopy, revealed blasts, compatible with lymphoblasts. Additional proof of the diagnosis of ALL were the diffuse lymphadenopathy and the rapid response to ALL chemotherapy. Scattered azurophilic granules were present in some lymphoblasts; ultrastructurally multiple lysosomal inclusions were detected, containing small vesicles, sometimes in association with entrapped cytoplasmic organelles. The large amounts of phospholipids in these inclusions explain the Sudan Black B positivity. This type of ALL can easily be misdiagnosed as acute myeloid leukaemia.

T-cell chronic lymphocytic leukemia in a patient with invasive thymoma in remission with chemotherapy.

This is a case report of a patient with invasive thymoma. Subsequently to radiotherapy and steroids, a combination chemotherapy of cis-platinum (CDDP) and doxorubicin was tested with good results. The patient later developed a chronic lymphocytic leukemia (CLL); morphologically and cytochemically a T-CLL with skin localizations, hepatomegaly, and a high leukocyte count.

Chromosome analysis in two unusual malignant blood disorders presumably induced by benzene.

Two patients with presumably benzene-induced malignant blood disorders with preleukemic phases were cytogenetically monitored through the courses of their diseases. Patient 1, in addition to a familial chromosome translocation [t(3;16)], developed karyotypic abnormalities in 100% of the marrow cells, including two translocation: t(9;16)] and t(4;15). Monosomy of chromosome 7 characterized the cells of patient 2. Cytogenetic monitoring of the patients at various phases of their diseases served as an important indicator of the transformation or progression of the preleukemia into frank leukemia and of the unusual behavior of such leukemic cells.

Dyserythropoiesis and annulate lamellae.

Cytoplasmic and intranuclear annulate lamellae in the erythroblasts from patients with dyserythropoietic anaemia (megaloblastic anaemia, dysplastic anaemia and erythroleukaemia) are described. Annulate lamellae have mainly been observed in oocytes, in embryonic tissues and in malignant cells. Their occurrence in dyserythropoietic anaemia may be related to the reappearance of fetal characteristics in the erythroblasts and erythrocytes.

8/21 translocation in acute myeloid leukaemia.

8;21 translocation was found in 10 AML patients. These patients exhibited a distinct clinical and haematological picture, characterized by M2 bone marrow, with rather good maturation, a high count of mature granulocytes, splenomegaly, and the absence of DIC. Complete remission as easily obtained. It was reported that the median survival is better than for other AML patients with abnormal karyotypes, but this could not be substantiated in our small series. The loss of a sex chromosome was found to be frequent and of poor prognostic significance.

Hypercalcemia and diffuse osteolytic lesions in the acute phase of chronic myelogenous leukemia. A possible relation between lymphoid transformation and hypercalcemia.

A patient with blastic crisis of chronic myelogenous leukemia (CML) is presented. The acute phase was localized in the lymph nodes and bones, causing severe osteolytic lesions and hypercalcemia. The blast cells were undifferentiated in light microscopy and by histochemical stains. As viewed under electron microscopy, a considerable proportion of the blast cells were of myeloid origin, while immunologic markers and cytogenetics indicated a lymphoid origin. It seems plausible that the patient had a mixed myeloid-lymphoid blast crisis, but that the lymphoid blasts were responsible for the severe osteolytic lesions and the hypercalcemia.

Chromosome abnormalities in acute promyelocytic leukemia (APL).

Sixteen patients, 15 adults and one child, with APL have been studied cytogenetically; 14 of these had an abnormal karyotype (87%). Eleven of these consistently showed a t(15;17)(q26;q22) structural anomaly, one patient showed a 47,+8 karyotype, one a rearrangement of chromosomes No. 15 and No. 17, apparently different from that in the other patients, and one a No. 17 deletion without a demonstrable translocation. as an additional chromosome change trisomy No. 8 was found in 5 cases and monosomy No. 7 in two. The t)15;17)(q26;q22) structural anomaly is highly characteristic of APL, is found in APL of children and adults, but it is apparently not associated with a clinically different form of APL.

A new chromosome anomaly in acute lymphoblastic leukemia (ALL).

A new chromosome anomaly in acute lymphoblastic leukemia (ALL) is reported. Three, possibly four, patients showed an identical karyotype anomaly, characterized by a (4;11)(q13;q22) reciprocal translocation. This anomaly has not so far been found in lymphoproliferative disorders other than ALL. Two of the patients had congenital leukemia, but the anomaly described appears to be more characteristic of ALL than of congenital leukemia, and may help the clinician in establishing the diagnosis of ALL.