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PubMed1982

[Chromosomal abnormalities of the blastic phase of chronic myeloid leukemia].

The chromosomal involvement in the development of malignancy in chronic myeloid leukemia is not a random event. A second Ph1, a trisomy 8, an isochromosome 17q, a trisomy 17 are the main abnormalities. These aberrations use to occur as a karyotypic evolution, either simple or complicated. An extra-medullary development of blastic transformation was demonstrated by chromosomal analysis. It is difficult to demonstrate a correlation between chromosomal abnormalities and clinical evolution in the acute phase of chronic myeloid leukemia.

Chromosome Aberrations↗
PubMed1996

Rhabdoid tumor of the kidney: a report of two cases with respective tumor markers and a specific chromosomal abnormality, del(11p13).

Malignant rhabdoid tumor is a rare, aggressive, invariably lethal tumor that is resistant to multimodal treatment. In this report, two patients with malignant rhabdoid tumor of the kidney (RTK) are described. The first patient is the first case of RKT with hyperreninemia, and the second case is also the first case with a specific chromosomal abnormality, del 11p13. The first patient presented with hematuria and a mass in the left kidney. Plasma renin, angiotensin, and aldosterone levels were elevated and paralleled the tumor progression. The karyotype of the tumor cells was normal (46,XX). In the second patient, who presented with a mass in the right kidney, the concentration of plasma tissue polypeptide antigen was elevated and paralleled the tumor progression. The karyotype of the tumor cells was 46,XX, del(11)(pter-p13::p12-qter). RTK with a cytogenetic abnormality of del(11p13), which is usually found in aniridia-Wilms' tumor syndrome, has not been known. Both patients died of metastatic disease within 7 months of diagnosis in spite of the multimodal therapy. The clinicopathology of RTK and the differences between Wilms' tumor and RTK raise compelling questions which should be the subject of future studies.

Biomarkers, Tumor↗
PubMed1993

[Sideroblastic anemia preceded by essential thrombocythemia with 20q- chromosome abnormality].

A 78-year-old man presented with marked thrombocytosis (126.4 x 10(4)/microliters), low neutrophil alkaline phosphatase (NAP) score and an abnormal karyotype of 46, XY, del(20) (q11q13) (18 of 20 cells), without obvious anemia or ringed sideroblasts in bone marrow. He received ranimustine (MCNU) with a diagnosis of essential thrombocythemia. After 2 years, he was admitted because of macrocytic anemia. The peripheral blood smear showed anisopoikilocytosis with a few nucleated red blood cells. Moderate thrombocytosis (71.7 x 10(4)/microliters) and a low NAP score were also observed. Bone marrow aspiration revealed erythroid hyperplasia with a significant increase in ringed sideroblasts (85% of erythroblasts). Cytogenetic studies showed the same abnormal karyotype 46, XY, del(20) (q11q13) in 100% of metaphase cells as those at initial diagnosis. A diagnosis of sideroblastic anemia preceded by essential thrombocythemia was made. No rearrangement or amplification of c-src was revealed. The observation of the same chromosome abnormality (20q-) in different phases of this patient's disease indicates that chronic myeloproliferative disorders and myelodysplastic syndrome may share some borderline or transitional cases with a similar pathogenesis.

Aged↗
PubMedDate not supplied

Non-random primary and secondary chromosomal abnormalities in human gastric cancers.

By using Giemsa-banding and fluorescence in situ hybridization techniques, we have been able to identify primary and secondary cytogenetic abnormalities in four gastric tumors at different stages of development. Structural and numerical abnormalities were present in all four gastric tumors in chromosomes 3, 7, 11, and X. Other abnormalities involving chromosomes 1, 5, 6, 8, 13, 15, 17, 18, 19 and 22 were observed, but only in three advanced gastric tumors, suggesting that these were secondary/tertiary genetic defects. Based on these results it was possible for us to decipher primary and secondary genetic abnormalities in these four gastric tumors.

Biopsy↗
PubMed1990

[Chronic myelomonocytic leukemia transformed from refractory anemia with ring sideroblasts with a rare abnormal chromosome, inv (12)].

We report here a rare transformation from refractory anemia with ring sideroblasts (RARS) to chronic myelomonocytic leukemia (CMML). A rare karyotype, inv (12), was also seen at the phase of CMML. A 76-year-old female consulted a physician because of hoarseness in June, 1983. An anemia was found and blood transfusions were made. In August, 1983, she was referred and admitted to Tsukuba University Hospital for a further examination of anemia. A diagnosis of MDS (RARS) was made by hematological examinations, and pyridoxamine was administered from September, 1983. The monocyte counts in the peripheral blood increased above 1,000/microliters continuously from June, 1985, and an exacerbation of anemia was also seen. At the second admission to our hospital in August, 1988, the diagnostic criteria for CMML by the FAB co-operative group was fulfilled. At that time, chromosomal analysis revealed an abnormal karyotype; 46XY, inv (12) (p13.3 q15). Even at the phase of CMML, ringed sideroblasts were also seen in 2.2% of nucleated cell count in the bone marrow. To our knowledge, only 12 cases have been reported as transformation from another type of MDS to CMML. The present case is thought to be a rare case of transformation of MDS. On the other hand, 8 cases with inv (12) associated with malignant hematological disorders have been reported previously. Four of the above 8 cases were MDS. A relationship between development of MDS and inv (12) was suggested.

Aged↗
PubMed1975

Megaloblastic changes and chromosome abnormalities of erythropoietic cells in acute myeloid leukaemia.

Using Giemsa banding technique, the bone marrow chromosomes were studied in 9 patients with acute myeloid leukaemia (AML). Four patients had 100% normal diploid cells and 5 had 100% abnormal cells: 28-92% of the mitoses were found in erythroid cells. The percentage of erythroblasts with megaloblastoid changes was abnormally high. It was not increased in the cases with chromosomal abnormalities. These findings indicate that chromosomal aberrations are not prerequisites for the development of megaloblasts in AML. Furthermore, abnormalities in the DNA synthesis bringing about the megaloblastoid changes may occur without influencing karyotype.

Acute Disease↗
PubMed2002

Chromosomal abnormalities in T-cell large granular lymphocyte leukaemia: report of two cases and review of the literature.

Cytogenetic information on T-cell large granular lymphocyte leukaemia (T-LGL; large granular lymphocytosis) is limited. We report two cases of T-LGL with unusual karyotypic aberrations. The first case showed a novel inv(7)(p15q22) as the sole chromosomal abnormality, while the second case showed an inv(14)(q11q32) with evidence of clonal evolution. The breakpoints 7p14-p15 and 14q11 coincide with the T-cell receptor (TCR)-gamma and TCR-alpha/TCR-delta gene loci respectively. This is the first report describing the possible involvement of T-cell receptor genes in karyotypic aberrations in T-LGL.

Adult↗
PubMed1979

Membranous nephritis in infantile systemic lupus erythematosus associated with chromosomal abnormalities.

A white female infant who developed a sudden onset of gross hematuria and proteinuria at 3 months of age was referred for evaluation of nephrotic syndrome at 6 months. Laboratory investigations revealed severe Coomb's negative hemolytic anemia, leukopenia, thrombocytopenia, hypocomplementemia and elevated anti-nuclear antibody titer and DNA antibodies. Renal biopsy showed a membranous type of morphology. She was also found to have chromosome abnormalities. She had an eventual favorable response to steroid therapy. Systemic lupus erythematosus (SLE) is rarely seen in young infants and the renal expression of the disease found in our case has never been reported.

Chromosome Aberrations↗
PubMed1983

Induction of DNA strand breaks and chromosome abnormalities by an imide derivative of 3-nitro-1,8-naphthalic acid (mitonafide) in Chinese hamster ovary cells.

Mitonafide (5-nitro-2-(2-dimethylaminoethyl)-benzo- [de]isoquinoline-1,3-dione hydrochloride), a new candidate as an anticancer or antiviral agent, inhibited the incorporation of DNA precursors into the acid-insoluble fractions of cultured Chinese hamster ovary (CHO) cells and also into CHO cells made permeable (i.e., "permeabilized") that were supplemented with ATP and deoxynucleoside triphosphates. Mitonafide enhanced the degradation of previously incorporated [3H]thymidine and increased the amount of DNA recovered in fractions containing single-stranded DNA after alkaline denaturation and hydroxyapatite chromatography. At concentrations of 0.01 and 1.0 microM, respectively, mitonafide increased the frequency of sister chromatid exchanges and chromosome aberrations in CHO cells. The inhibition of DNA synthesis in a permeabilized cell system suggested that mitonafide acted on the DNA-synthesizing apparatus without requiring metabolic conversion and interfered with DNA synthesis independent of the cellular metabolism of DNA precursors. Mitonafide induced DNA strand breaks and chromosome abnormalities in cultured cells.

Animals↗
PubMed1987

Sequential karyotype study on Ph-positive chronic myelocytic leukemia. Significance of additional chromosomal abnormalities during disease evolution.

Twenty-eight patients with Ph-positive chronic myelocytic leukemia (CML), who all died of the disease, had cytogenetic studies throughout the progression of the disease: at diagnosis, during chronic phase (CP), accelerated phase (AP), and blastic transformation (BT). The aim of this sequential study was to appreciate the frequency and the significance of additional chromosomal abnormalities (ACA) during CML evolution, especially in the CP. In our series ACA were rare (five of 28 patients) and simple (four of five) in CP. They were much more frequent and complex in AP (11 of 16) and in BT (22 of 24) with complex abnormalities (13 of 24). In CP, ACA predictive value for metamorphosis was poor: only three of 13 patients had ACA within 1 year before BT, and only two of 11 within 1 year before AP. ACA were mainly observed during the last period before BT: ten of 17 patients studied within 6 months prior BT had ACA, but by then two of three were in AP. ACA, especially when complex, appear to be a hallmark of CML metamorphosis.

Adult↗
PubMed1975

Chromosomal abnormalities and dyserythropoiesis in the preleukaemic phase of multiple myeloma.

Two patients with multiple myeloma and one patient with a plasma-cytoma are reported in whom acute leukaemia developed following long-term treatment with melphalan. Each patient had a complete remission of the plasma cell disorder during which time the bone marrow was moderately to severely hypoplastic. The end of the clinical remission was heralded by a dyserythropoietic anaemia which persisted several months before the emergence of the terminal acute leukaemia. Marked chromosomal abnormalities were observed in marrow cells during the dyserythropoietic phase.

Bone Marrow↗
PubMed1999

Acute promyelocytic leukemia with additional chromosomal abnormalities and absence of Auer rods.

We report 4 acute promyelocytic leukemia cases that demonstrated karyotypic abnormalities in addition to the classic t(15;17) translocation and did not contain any Auer rods in leukemic blasts and dysplastic promyelocytes, either in the peripheral blood or in the bone marrow. Morphologically, 2 cases were characterized as the common or hypergranular type, and 2 were otherwise typical of the microgranular variant. Three patients had typical clinical and laboratory signs of disseminated intravascular coagulation. Immunophenotypic analysis of the blasts and dysplastic promyelocytes by dual-color flow cytometry revealed an immunoprofile consistent with acute promyelocytic leukemia. Cytogenetic analysis of the bone marrow revealed the following karyotypes: case 1, [47,XY,t(15;17)(q22;q12),+21]; case 2, [47,XY,t(15;17)(q22;q12),-16,+2 mar]; case 3, [47,XX,t(15;17)(q22;q12)ider(17)(q10),+8]; and case 4, [47,XY,der(5)t(5;?9)(p15;q12).t(15;17)(q22;q12]. Review of an additional 7 cases with t(15;17) as the sole cytogenetic abnormality revealed Auer rods in all cases. Our findings emphasize the importance of cytogenetics in evaluating acute myeloid leukemias. Acute promyelocytic leukemia without Auer rods, which may be morphologically confused with other types of leukemia (in particular, acute myeloblastic leukemia, type M2 or M5) or agranulocytosis with maturation arrest, appears to be associated with additional chromosomal abnormalities and possibly a poorer prognosis.

Adult↗
PubMed2005

The use of genomic microarrays to study chromosomal abnormalities in mental retardation.

Mental retardation affects 2 to 3% of the US population. It is defined by broad criteria, including significantly subaverage intelligence, onset by age 18, and impaired function in a group of adaptive skills. A myriad of genetic and environmental causes have been described, but for approximately half of individuals diagnosed with mental retardation the molecular basis remains unknown. Genomic microarrays, also called array comparative genomic hybridization (array CGH), represent one of several novel technologies that allow the detection of chromosomal abnormalities, such as microdeletions and microduplications, in a rapid, high throughput fashion from genomic DNA samples. In one early application of this technology, genomic microarrays have been used to characterize the extent of chromosomal changes in a group of patients diagnosed with one particular type of disorder that causes mental retardation, such as deletion 1p36 syndrome. In another application, DNA samples from individuals with idiopathic mental retardation have been assayed to scan the entire genome in attempts to identify chromosomal changes. Genomic microarrays offer both a genome-wide perspective of chromosomal aberrations as well as higher resolution (to the level of approximately one megabase) compared to alternative available technologies.

Chromosome Aberrations↗
PubMed1995

Chromosomal abnormalities involving 11q13 are associated with poor prognosis in patients with squamous cell carcinoma of the head and neck.

BACKGROUND: In individual patients with squamous cell carcinoma of the head and neck (SCCHN), established prognostic factors do not satisfactorily predict clinical outcome. Although the karyotype is an independent prognostic factor in certain hematologic malignancies and solid tumors, no data have been reported concerning the possible relationship between chromosomal abnormalities and clinical outcome in patients with SCCHN: METHODS: In 116 cases of primary SCCHN, short term cultures were analyzed cytogenetically during 1987 through 1991, the karyotypes were divided into four groups: k1, normal (n = 35); k2, numeric changes only (n = 31); k3, simple structural abnormalities (n = 27); and k4, complex karyotypes (n = 23). The patients were followed for at least 18 months after diagnosis or until death. RESULTS: The 2-year survival rate was lower in the k4 subgroup (35%) than in the k1, k2, and k3 subgroups taken together (61%), both in the series as a whole (P = 0.02), and in the largest tumor site subgroup, laryngeal squamous cell carcinoma (n = 32), (P = 0.04). The most prevalent breakpoint was in chromosome band 11q13, occurring in 11 tumors, 10 of which belonged to the k4-subgroup. The 2-year survival rate was lower for patients with 11q13 rearrangements (20%) than for those without (60%), both in the series as a whole (P = 0.001), and in the k4-subgroup (P = 0.02). CONCLUSIONS: The results suggest that in SCCHN the presence of a complex karyotype is associated with poor prognosis, particularly when 11q13 rearrangements are present.

Adult↗
PubMed1990

[Chromosome abnormalities and tumor suppressor gene in childhood cancer].

Retinoblastoma gene has been cloned, and gene product has been characterized precisely. Recently, Wilms' tumor gene has been cloned, and interestingly, its expression was found in genitourinary system, suggesting that anomaly of this system was due to WT gene itself. Molecular analysis performed in colon cancer suggested that several tumor suppressor genes were involved in carcinogenesis and progression of this tumor. These findings revealed that tumor suppressor genes were involved in the development of adult cancer as well as childhood embryonal tumors. Chromosome abnormalities and tumor suppressor gene in childhood cancer are reviewed and referred to future prospects.

Child↗
PubMed1991

Growth factor requirements of childhood acute T-lymphoblastic leukemia: correlation between presence of chromosomal abnormalities and ability to grow permanently in vitro.

Cells from 10 cases of childhood acute T-lymphoblastic leukemia (T-ALL) were cultured in the presence of recombinant human interleukins (rhIL) or colony-stimulating factors (CSF) to analyze their growth factor requirements and differentiative potential. Although cells from most leukemic samples displayed a short-term proliferative response to several hematopoietic growth factors, only the ones featuring chromosomal translocations could be established as permanent cell lines. Two cell lines could be initiated only in the presence of IL-3 (TALL-103 and TALL-106), one in granulocyte-macrophage CSF (GM-CSF) (TALL-101), and one in IL-2 (TALL-104); only one cell line (TALL-105) was originated in the absence of growth factors. The TALL-101 and TALL-103 cell lines, derived from very immature T-ALL cases, underwent growth factor-dependent phenotypic conversion (lymphoid to myeloid). However, the T-cell receptor rearrangement and karyotype of the original leukemic clones were retained. In contrast, the TALL-104, -105, and -106 cell lines which originated from more mature T-ALL cases, maintained a T-lymphoblastic phenotype regardless of the growth factors in which they were expanded. These data demonstrate in vitro the aggressive nature of T-ALL cases bearing chromosomal abnormalities, and indicate that the lineage commitment of the malignant clone depends on its stage of maturation in T-cell ontogeny.

Adolescent↗
PubMed1986

Recurrent chromosome abnormalities in adult T-cell lymphomas of peripheral T-cell origin.

Cytogenetic studies were performed on 11 Japanese patients with adult T-cell lymphoma of peripheral T-cell origin. All patients had a histologic diagnosis of diffuse lymphoma, and were treated with intensive combination chemotherapy; their median survival was 6 months. Lymphomas were categorized on the basis of the classification proposed by the Lymphoma Study Group of Japan: 5 patients had the features of pleomorphic lymphoma; 3, mixed lymphoma; 2, large-cell lymphoma; and 1, medium-sized-cell lymphoma. The modal chromosome number of abnormal cells was near-diploid in 7, and hypotetraploid in 4 including 3 patients with pleomorphic lymphoma. Abnormalities of the clonal chromosomes were observed in all 11 patients. A translocation of the short arm of 19 at band 19p13 was found in 2 patients with pleomorphic lymphoma and in one patient each with mixed lymphoma and medium-sized-cell lymphoma. A translocation of the short arm of 14, with a break at band 14p12, occurred in 4 patients with pleomorphic lymphoma. In one patient each with mixed lymphoma and large-cell lymphoma, an extra chromosome 3 was found. The numerical change was unique because their lymphomas were further categorized as "angioimmunoblastic lymphadenopathy with dysproteinemia" and "large-cell immunoblastic lymphoma", respectively. Our findings suggest that characteristic chromosome abnormalities occur in adult T-cell lymphoma, and dividing cells in the tetraploid range tend to be predominant in pleomorphic lymphoma.

Adult↗
PubMed1986

[Maffucci's syndrome with intracranial manifestation and chromosome abnormalities--a case report].

The patient was a 52-year-old woman who was initially admitted to our hospital with a recent history of diplopia, ptosis and visual impairment on the right, adding to 6 years history of the right orbital pain and temporal headache. She had gradually developed pain and fatigue of the right knee since childhood and had been suffered from multiple subcutaneous tumor in the both hands and the right foot from youth onward. On neurological examination, she has had right exphthalmos and 3rd and 6th cranial nerve palsies on the right. Skull X-ray and CT scan showed parasellar calcified mass on the right. In chromosome examination, the inversion of the No. 1 chromosome was disclosed by the Q- and C-band dyeing of her leucocytes and skin culture. Cavernous hemangioma of her skin lesion and enchondroma of the skeletal lesion were diagnosed by X-ray examination and histological specimen, indicating so-called Maffucci's syndrome. One year and a half later, she was readmitted to our institution, because of progressive visual loss on the right and left hemiparesis. Malignant change of the parasellar lesion was suspected by the clinical course and neuroradiological findings and was confirmed histologically by the second peration. During postoperative course, intratumoral hemorrhage had occurred twice and the patient died, and postmortem examination confirmed her clinical affair. This is the case which was clarified malignant transformation of enchondroma in the parasellar region, and is the first case verified the chromosome abnormalities in Maffucci's syndrome.

Brain Neoplasms↗