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Biomedical subjects

J D Rowley

Publications and source records attributed to J D Rowley.

At least 271 records · Page 15Linked to original sources
PubMed1981

Cytogenetic analysis of bone marrow and peripheral blood samples stored in fixative for several years.

We have developed a method which improves the spreading of chromosomes and permits banding analysis of cytogenetic samples of bone marrow and unstimulated peripheral blood which have been stored in fixative for up to 15 years. Metaphase cells had been harvested as usual and stored in fixative (acetic acid:methanol 1:3) at -15 C. The procedure includes 4-5 changes of fixative (acetic acid:ethanol 1:1). Next, cells are dropped onto a chilled, wet slide. The back of the slide is then rinsed with 70% ethanol and dried by ignition. C-, G-, Q-, or R-banding patterns can new be obtained with these specimens. The procedure is useful for reinvestigation of cytogenetic sample that were obtained prior to the development of banding techniques.

Acetates↗
PubMed1981

Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia.

An interstitial deletion of the short arm of a chromosome 11 was found in Wilms' tumor cells of a patient without aniridia. The chromosomes in her peripheral blood lymphocytes were normal. The karyotype of the tumor cells is similar to that reported for the somatic cells of patients with aniridia-Wilms' tumor association. We showed that the same cytogenetic change as that seen in patients with this condition, namely, an interstitial deletion of 11p13, can occur in patients without aniridia as a mutation that is confined to tumor cells.

Child, Preschool↗
PubMed1981

Human T-cell lymphoma with suppressor effects on the mixed lymphocyte reaction (MLR). I. Morphological and cytogenetic analysis.

The aggressive clinical course and the distinctive histologic, cytochemical, and cytogenetic features of an adult non-Sézary T-cell lymphoma with suppressor activity have been investigated. Morphological and ultrastructural analysis of neoplastic cells from peripheral blood and involved lymph nodes revealed cells with convoluted nuclei, prominent cytoplasmic azurophilic granules, well developed Golgi apparatus, short strands of endoplasmic reticulum, and moderate numbers of ribosomes and mitochondria. Cytochemical reactions showed acid phosphatase (ACP) positivity in virtually all of the neoplastic cells; and a substantial percentage of the cells, the tartrate-resistant acid phosphatase (T-ACP) isoenzyme was observed. Granular naphthyl acetate esterase (A-EST) reactivity was not present. The histological and cytochemical features of these neoplastic suppressor cells were compared with those recently described for the suppressor T-cell fraction isolated from normal peripheral blood T-cell by Fc gamma-rosette formation. The aneuploid clone had 47 chromosomes with multiple complex abnormalities, including a 14q + chromosome formed by the tandem translocation of two no. 14 chromosomes and translocations involving the long arms of no. 2 and no. 9 at band 9q34. These latter changes are particularly common in T-cell disorders. The extensive analysis of this histologic, cytochemical, and cytogenetic features of this adult T-cell suppressor lymphoma should help to clarify the criteria for distinguishing among the subsets of T-cell neoplasms with definable immunologic function.

Cytogenetics↗
PubMed1981

Chromosome abnormalities in Down's syndrome patients with acute leukemia.

Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50, XX, +6, +19, +21, +22, +8, XX, +21, and 47,XY, +8, - 21 +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentiation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no.22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and /or G chromosomes, and that the abnormalities of +8 and of +19, +22 in DS children may be associated with acute leukemia (AL) in an early stage of myeloid differentiation.

Acid Phosphatase↗
PubMed1981

Association of specific chromosome abnormalities with type of acute leukemia and with patient age.

Complete data regarding age, sex, karyotype, and French-American-British Cooperative Group classification were available for 239 unselected patients with acute nonlymphocytic leukemia. Of these, 128 were classified as having acute myeloblastic leukemia (M1 or M2); within the acute myeloblastic leukemia group, 83 (65%) of the patients were chromosomally abnormal. Except for 16 patients with a t(8;21), the percentage of patients with an abnormal karyotype increased with age, particularly above the age of 50 years. Besides the patients with t(8;21), there were 29 patients with loss of part or all of chromosomes 5 and/or 7, 11 patients with +8, and 27 patients with other abnormalities. Of 70 patients with acute myelomonocytic leukemia (M4), on the other hand, 28 (40%) were chromosomally abnormal, only three had loss of chromosomes 5 or 7, one was -7, +8, and our were +8, whereas 20 had other abnormalities. This difference may reflect different etiological factors in these two types of leukemia.

Adolescent↗
PubMed1981

Nonrandom chromosome abnormalities in acute leukemia and dysmyelopoietic syndromes in patients with previously treated malignant disease.

Cytogenetic studies were performed on 26 patients who developed acute nonlymphocytic leukemia (ANLL) or a dysmyelopoietic syndrome after treatment of a primary malignancy. Fifteen patients had radiotherapy and chemotherapy, seven had only chemotherapy, and four had only radiotherapy. The median times from diagnosis of the initial disease to the development of bone marrow dysfunction for these treatment groups were 50, 46, and 49 mo, respectively. Twenty-five patients had an abnormal karyotype in myeloid cells. Loss of part or all of no. 5 and/or no. 7 was noted in 23 of 25 patients with aneuploidy. Loss of no. 5 was noted only in patients who previously had malignant lymphoma, whereas loss of no. 7 was seen in these patients as well as in those who had other malignancies. Abnormalities of both nos. 5 and 7 occurred in 53% of the patients treated with combined therapy and in only 27% of patients treated with either modality alone. Although these changes are distinctly different from those noted in lymphomas, they are similar to those seen in 25% of aneuploid patients with ANLL de novo.

Acute Disease↗
PubMed1980

General report on the Second International Workshop on Chromosomes in Leukemia.

The workshop participants were able to establish that the t(8;21) and t(15;17) are each definitely associated with a particular type of ANLL, namely, AML-M2 and APL-M3 and M3 variant, respectively. Both translocations, particularly the t(15;17), have an uneven geographical distribution which cannot presently be explained. The data also show that patients with preleukemia and an abnormal karyotype have a very poor prognosis with a fatal outcome in 60%, compared with only 30% for patients with a normal karyotype.

Chromosome Aberrations↗
PubMed1980

Chromosomes and causation of human cancer and leukemia. XXXV. The missing Y in acute non-lymphocytic leukemia (ANLL).

The bone marrow chromosomes in six ANLL patients with a missing Y were examined. In all of six cases, the missing Y was the only chromosomal abnormality at diagnosis, and it persisted through their clinical courses. One patient had a shift from the 45,X to a 47,XX, +5, 13q + karyotype in the terminal phase of the disease. The findings indicate that the 45,X cells were not involved in further karyotypic progression, and that the leukemic process usually seemed to involve the 46,XY cell rather than the 45,X cells. Based on the data of the current study and that in the literature, it appears that the presence of missing Y in ANLL may afford a rather benign clinical course to such patients when compared to that of the ANLL patients with a missing Y. It is suggested that the age of the patients, karyotypic differences and degree of a missing Y in the marrow cells may affect the clinical course of ANLL.

Adult↗
PubMed1980

"Microgranular" acute promyelocytic leukemia: a distinct clinical, ultrastructural, and cytogenetic entity.

Three patients with acute leukemia, disseminated intravascular coagulation, and a specific acquired chromosome abnormality [t (15;17)] were found by transmission electron microscopy to have the typical distribution of granules seen in promyelocytes. However, the average granule sizes were 120, 170, and 180 nm, respectively, for the three patients, significantly less than the 250-nm resolution of light microscopy. We regard the leukemia in these three patients as comprising a distinct clinical, ultrastructural, and cytogenetic entity that we have chosen to call "microgranular" acute promyelocytic leukemia.

Adult↗
PubMed1980

Dysmyelopoietic syndrome: sequential clinical and cytogenetic studies.

Clinical and cytogenetic studies were done on 8 patients with dysmyelopoietic syndrome: 6 of these patients had refractory anemia with an excess of blasts (RAEB), and 2 patients had chronic myelomonocytic leukemia (CMML) according to the French-American-British classification. The ages of these 8 patients (3 female and 5 male) ranged from 45 to 70 yr (median, 61.5 yr). Seven of the 8 patients died 3-86 mo (median, 11 mo) after the onset of symptoms of hemorrhage or infections. Cytogenetic studies of bone marrow cells with the Q-banding technique showed clonal karyotypic abnormalities in 7 of the 8 patients (87.5%). Five of the 7 chromosomally abnormal patients had very complex karyotypes; all 7 patients, however, had at least 1 of 4 specific changes: -5 (or 5Q-), -7, +8, and +21. Three of the 7 patients with abnormal karyotypes had had some exposure to potential mutagenic/carcinogenic agents. Five of the 7 patients had serial cytogenetic analyses, 4 of which showed evolution of the karyotype to further complexity; in 2 cases, this coincided with the evolution of the disease into acute leukemia. The median survival time of patients whose initial cytogenetic samples showed both normal and abnormal metaphases was more than twice that of patients who had only abnormal metaphases initially (12 mo versus 4.5 mo).

Aged↗
PubMed1980

Chronic myelodysplastic syndrome (preleukemia) with the Philadelphia chromosome.

A patient with severe anemia, reticulocytopenia, and erythroid hyperplasia of the bone marrow developed fatal acute nonlymphocytic leukemia after 3 yr. A Philadelphia chromosome with the typical 9/22 translocation t(9q +;22q-) was identified by banding techniques in a small number of bone marrow cells throughout the preleukemic phase of the illness (14%--38% of metaphases) and during the acute transformation (50%). Granulocytic colony formation in vitro was abnormal in the preleukemic phase. The diagnosis of chronic granulocytic leukemia was excluded on the basis of clinical and laboratory findings. The identification of the Ph1 chromosome in this form of chronic myelodysplastic syndrome (preleukemia) provides a new example of a hematologic disorder predisposing to acute leukemia in which this chromosomal abnormality occurs.

Chromosomes, Human, 21-22 and Y↗
PubMed1980

The clinical usefulness of chromosome studies in patients with leukemia.

Chromosome banding techniques have revealed the presence of nonrandom chromosome abnormalities in various myeloid leukemias. Of special importance is the association of consistent chromosome translocations with particular types of leukemia; this has long been recognized in CML, which is associated with the Ph1 chromosome, now identified as a 9;22 translocation. We now realize that the 8;21 translocation is seen in at least 10% of patients with AML (M2 marrow), and that the 15;17 translocation is present in at least 40% of patients with APL (M3 marrow). In addition to providing an important technique for more precise classification of myeloid leukemias, cyto-genetic analysis can be used in a general sense to predict possible response to therapy, and thus to predict survival. Although this information is not widely used at present, it may be that physicians would choose supportive therapy rather than aggressive chemotherapy in an individual older than 60 or 70 years of age who had only chromosomally abnormal leukemic cells. On the other hand, a younger patient with a normal karyotype might be identified during the initial therapy as one for whom bone marrow transplantation could be appropriate.

Aged↗
PubMed1980

The 14q+ chromosome in pre-B-ALL.

A child who had acute lymphoblastic leukemia (ALL) associated with an 8;14 chromosome translocation and with a pre-B phenotype is described. The leukemic cells were determined to be pre-B-cells on the basis of intracytoplasmic mu-chain immunoglobulin (cIgM+) and the common-ALL antigen, lack of receptors for sheep erythrocytes, and lack of surface immunoglobulin. The 8;14 translocation is frequently found in patients with Burkitt's lymphoma and in most patients with B-cell ALL and is known to carry a poor prognosis. Thus far, no karyotypes have been reported for patients with pre-B-ALL. The present case indicates that a 14q+ chromosome may provide a proliferative advantage not only to cells with a B-cell phenotype, but also to pre-B-cells. The short survival of our patient also suggests that the 14q+ abnormality and the pre-B phenotype may signal a poor prognosis.

B-Lymphocytes↗