1/5. Carcinocythemia (carcinoma cell leukemia). An acute leukemia-like picture due to metastatic carcinoma cells.observation of a unique population of cells on a Wright-stained blood smear of a patient with metastatic breast carcinoma prompted a study to determine their origin. The primary carcinoma contained a marker, the presence of "signet cells." These were demonstrated in direct peripheral smears and buffy coat preparation of peripheral blood and confirmed histochemically by showing positive periodic acid-Schiff, alpha-napthol and beta-glucuronidase reactions. "Carcinocythemia" is suggested as a name for this unusual process observed over a six month period. Studies of the patient's immunocompetence, of circulating cell surface immunoglobulins and karyotype analysis were made. Postmortem examination revealed retroperitoneal fibrosis, splenic atrophy and extensive metastatic carcinoma but no evidence of leukemia. The cells will be contrasted to those seen in a second patient who appeared to have acute myelocytic leukemia complicating extensive cancer involving the bone marrow. The observations suggest that a leukemia-like blood picture due to circulating cancer cells may occur during the course of metastatic breast carcinoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/5. Transient blastemia in phenotypically normal newborns.Two normal appearing infants presented in the newborn period with elevated white blood cell counts and immature blast cells. Initial bone marrow karyotype analysis showed trisomy of chromosome 21 in all metaphases. In both patients blastemia spontaneously resolved and percentage of trisomy 21 cells decreased. One infant required multiple exchange transfusions and pericardiotomy. The other patient had undifferentiated blasts and continued to have subtle hematopoietic abnormalities greater than 2 years later. Both children have had normal growth and development. The clinical course of these patients emphasizes the need for aggressive supportive care without use of cytotoxic drugs in phenotypically normal newborns with blastemia showing trisomy 21.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/5. Transient leukemoid reaction and trisomy 21 mosaicism in a phenotypically normal newborn.Transient leukemoid reactions that resemble acute leukemia have been well described for infants with trisomy 21 (down syndrome). We report a phenotypically normal 3-day-old boy with hepatosplenomegaly, leukocytosis, and circulating myeloblasts. On chromosome analysis, trisomy 21 was found in all blood and bone marrow cells. However, only 4% of cultured skin fibroblasts were trisomic and the other 96% were normal, thus indicating mosaicism. Without treatment, the leukocyte count gradually returned to normal and the organomegaly diminished. Subsequently, chromosome analysis of blood and bone marrow disclosed a predominance of cells with a normal karyotype. These findings suggest that mosaicism could be responsible for the transient leukemoid reactions in some newborns--i.e., the trisomic cells may temporarily gain a proliferative advantage over the normal cells, perhaps by inhibiting their growth. Serial cytogenetic studies, as well as chromosome analysis of more than one tissue, may help to distinguish transient leukemoid reactions from acute leukemia in infants.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/5. Power of the MAC (morphology-antibody-chromosomes) method in distinguishing reactive and clonal cells: report of a patient with acute lymphatic leukemia, eosinophilia, and t(5;14).We present a patient with acute lymphatic leukemia, eosinophilia, and a 5;14-translocation, a rare but well-documented condition. In order to clarify whether granulocytes were involved in the disease, we applied the MAC (Morphology-Antibody-chromosomes) technique to samples of the bone marrow and, during a central nervous system relapse, to those of the cerebrospinal fluid. The karyotype of the blast cells was 47,XY, X,t(5;14)(q31;q32),i(7)(q10). interphase cytogenetic study by in situ hybridization with an X-specific alphoid probe revealed the abnormality in CD10, CD19, and TdT (terminal deoxynucleotidyl transferase) positive lymphoid cells, whereas CD13 positive, sudan black B positive, eosinophilic, and basophilic granulocytes as well as monocytes and small lymphocytes did not have the abnormality. Our results show that the eosinophilic and basophilic granulocytes in this subtype of acute leukemia do not belong to the malignant clone but are reactive. This study also confirmed the usefulness of the MAC technique in distinguishing neoplastic and reactive cells in malignancy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/5. karyotype evolution in a patient with down syndrome and acute leukemia following a congenital leukemoid reaction.We report the serial cytogenetic study of a patient with down syndrome who experienced a congenital leukemoid reaction, underwent a spontaneous remission within four months, and subsequently developed acute myeloid leukemia at 16 months. A blood chromosome study to rule out down syndrome performed at age 24 days, during the leukemoid reaction, revealed a 47,XX, 21 karyotype. The diagnosis of acute leukemia was made at 16 months, at which time a chromosome study, on bone marrow, was performed. This analysis revealed a clonal karyotype of 47,XX, 21,-22, der(22)t(1;22)(q21;q13) in all but one cell studied. The single apparently nonclonal cell showed a karyotype of 49,XX, 12,-13,-19, der(19)t(19;?)(q11;?)x2, 21, 22. A third chromosome study at 19 months indicated the original leukemic clone with t(1;22) (q21;q13) had been replaced by the clone represented by the single cell with 49 chromosomes seen in the previous chromosome study. This case of an infant with down syndrome and acute leukemia illustrated rapid evolution and a transitory nature to clonal chromosome aberrations while retaining AML morphology and course.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |