[Symptomatologic study of a case of complete transposition of the great vessels (atrial and right ventricular kinetocardiography)].
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Biomedical subjects
Publications and source records attributed to R Spanedda.
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A case of acute myelomonocytic leukema is described, which was characterized cytogenetically by the presence of centromeric elongations, somatic crossovers, selective endoreduplication figures, and multiple chromosomal clusters. The demonstration of these phenomena by selective staining techniques for the chromosome bands (Q, C, G and S) and the nucleolar areas (acridine-orange, amido black B 10) raises some biological aspects involved in the proliferation of leukemic cells, such as nucleolar persistance during the metaphase and the non-separation of chromatids in the clusters during the anaphase. These structural abnormalities may represent the background for the explanation of the appearance of subclones in neoplastic disorders.
Chromosomal studies have been performed in 2 patients with angio-immunoblastic lymphadenopathy. In both the cases the presence of abnormal cell lines characterized by marker chromosomes has been detected. Application of banding techniques allowed to detect the structural composition of the marker chromosome in 1 of the cases and to show a clonal evolutive pattern of the rearranged chromosomal set; In the same patient a consistent Y loss observed in the major fraction of the investigated metaphases did not appear to be related to any defined rearrangement of the karyotype. Longitudinal chromosomal studies are stressed in order to better correlate th cytogenetic abnormalities and the immunoreactive picture of the lymph nodes along the course of the disease.
Skeletal radiography, bone and bone marrow scintigraphy have been performed in 130 patients with plasma cell dyscrasias (119 multiple myeloma, 9 MGUS and 2 Waldenström disease). Our results confirm: 1) that radiography is much more sensitive than scintigraphy in the identification of the lesions typical of myeloma, but in the first stage bone scintigraphy and especially bone marrow scintigraphy are more sensitive than x-ray for the detection of regions affected by focal lesions; 2) that bone scintigraphy is of particular value in detecting some abnormalities in specific sites not fully visualized by x-ray; 3) that bone marrow scintigraphy is a valuable diagnostic tool in the early stage of myeloma, especially for evaluating the progression of the disease, because it is able to demonstrate not only focal lesions, but also bone marrow expansion. We believe that bone marrow scintigraphy may be a useful technique in the early diagnosis and follow-up of multiple myeloma, particularly in the detection of unusual forms (i.e., "smouldering" myeloma), but it remains only an "additional" technique for bone imaging.
Philadelphia chromosome-positive acute leukemias (Ph+ AL) show variable cytologic features, possibly reflecting heterogeneous stem cell involvement. Morphologic, immunologic and cytogenetic studies were performed in two cases of Ph+ acute lymphoblastic leukemia (ALL) in order to better delineate the clinicobiological features of this cytogenetic subset of AL. Sequential cytoimmunologic studies in patient 1 documented a lineage switch from pro-B ALL with a minor myeloid component at diagnosis to minimally differentiated acute myeloid leukemia (AML) at relapse. In this patient the major breakpoint cluster region (M-bcr) was in a rearranged configuration and all metaphase cells showed t(9;22)(q34;q11), both at diagnosis and at relapse. In patient 2 a diagnosis of Ph+ early T-cell ALL with minor myeloid component was made. In this patient the M-bcr was in a germline configuration. Cytogenetic studies documented the presence of the Ph chromosome in all metaphases from a lymphoid cell population obtained by fine-needle aspiration of an enlarged lymph node, and from a bone marrow cell fraction enriched in granulocyte precursors. This finding suggests multilineage involvement in this patient. Lineage switch and multilineage involvement in two patients suggest that a pluripotent stem cell may be affected rather frequently in patients with Ph+ AL. These findings show that biologically Ph+ AL may resemble chronic myelogenous leukemia blast crisis, since it may originate from an undifferentiated stem cell carrying the t(9;22) translocation.
Three patients affected by T helper chronic lymphocytic leukemia were treated with low dose interferon alpha-2b (3 MU/m2 3 times weekly). The disease presented different pathologic expressions with diffuse skin lesions in one patient, a mild clinical course and a prolymphocytic variant with aggressive features, respectively, in the other two cases. A consistent response was observed within 3-6 weeks; by that time a reduction of blood and marrow lymphocytosis in the three patients and a regression of the cutaneous lesions were documented. Therefore, it should be emphasized that the use of alpha IFN, whose effectiveness on cutaneous T cell lymphomas has been already demonstrated, may represent an active agent in the treatment of leukemic T helper phenotype chronic lymphocytic proliferations.
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The small bowel double contrast enema was performed in 44 patients with diffuse non-Hodgkin lymphoma. "Secondary" involvement of small bowel is detected in 14 subjects (31.8%), but radiographic features are not specific for the disease. Really, lymphoma and regional enteritis may demonstrate strikingly similar patterns. The signs we have considered are: intraluminal involvement, with narrowing or dilated segments; diffuse or localized polypoid lesions; large extraluminal masses. The roentgenographic pattern of the mucosal folds consists of thick, straight or tortuous folds, with "cogwheel" appearance and moderate dilatation of the lumen.
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