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PubMed1997

The reciprocal translocation t(9;16)(q22;p13) is a primary chromosome abnormality in basal cell carcinomas.

The reciprocal translocation t(9;16)(q22;p13) was identified in three short-term cultured basal cell carcinomas (BCCs). The t(9;16) was the sole anomaly in one clone in two tumors and was accompanied by a second change that also affected the long arm of chromosome 9 in the third. In addition, other cytogenetically unrelated abnormal clones were also found in all three BCCs. The identification of t(9;16)(q22;p13) as a primary chromosomal abnormality in a subset of BCCs (we found it in 3 of 22 tumors) is especially intriguing against the background that the PTCH gene, which when mutated in the germ line presumably gives rise to the autosomal dominant basal cell nevus or Gorlin's syndrome, maps to chromosome band 9q22. None of the genes rearranged in the BCC-specific t(9;16)(q22;p13) translocation have been identified, but we hypothesize that the translocation represents the cytogenetic corollary of a tumorigenic recombination of PTCH with an as yet unknown gene in 16p13. If so, this would be the first time that a tumor suppressor gene causally involved in a hereditary cancer is shown to be frequently rearranged through a specific translocation in sporadic carcinomas of the same type.

Aged↗
PubMed1992

Whole-arm t(1;16) and i(1q) as sole anomalies identify gain of 1q as a primary chromosomal abnormality in breast cancer.

Cytogenetic analysis of four ductal breast carcinomas revealed net gain of 1q in all tumors. In the first tumor, the only change was that one chromosome 16 was replaced by a derivative chromosome consisting of 16p and 1q. The same unbalanced whole-arm translocation was also found in the second tumor, as the only aberration in one of four abnormal clones. In the last two cases, which also were characterized by cytogenetically unrelated clones, an extra i(1q) was present in one clone in both tumors as the sole aberration. Our findings suggest that gain of 1q is a primary chromosomal abnormality in breast carcinomas, in the sense that it is an early event that precedes the acquisition of more complex changes.

Adenocarcinoma, Mucinous↗
PubMed1975

Chromosome abnormalities identified by banding technique in a patient with acute myeloid leukaemia complicating Hodgkin's disease.

Chromosome analyses using the Giemsa banding technique were performed on bone marrow cells in a patient with the association of Hodgkin's disease and acute myeloid leukaemia. All cells had an abnormal karyotype showing an extra chromosome No. 14, loss of one chromosome No. 17 and gain of one chromosome No. 18. These abnormalities are in many respects similar to the karyotype changes of lymphoid cells in malignant lymphomas, suggesting a pathogenetic relationship between the two disorders.

Adult↗
PubMed2002

Detection of numerical chromosomal abnormalities in epithelial ovarian neoplasms by fluorescence in situ hybridization (FISH) and a review of the current literature.

Preliminary retrospective chromosomal analysis was performed using fluorescence in situ hybridization (FISH) with alphoid DNA probes for chromosomes 1, 3, 6, 8, 12, 17, and X. Twenty-four epithelial ovarian tumors were examined in this pilot study, including 8 borderline (LMP) serous tumors, 9 serous carcinoma, and 7 mucinous carcinoma. Hybridization signals were counted to demonstrate the frequency of aneusomy, trace chromosomal progression, and identify the predominance of chromosome copy number abnormalities that are specific to a particular histotype. The preliminary results revealed almost an equal number of mean aneusomies in serous (58.13 +/- 13%) and mucinous (64.33 +/- 10%) carcinoma, both of which were slightly higher than borderline serous tumors (50.57 +/- 17%). Hyposomies 3 and X were significantly higher in mucinous than in serous ovarian carcinomas, and lowest in borderline serous tumors (P<0.05 and P<0.01). Signal losses were a more frequent abnormality in all three histologic subtypes. Mucinous carcinomas showed a loss of chromosomes 8 (45.00 +/- 28%) and 3 (43.14 +/- 16%), in addition to a loss of chromosome X (56.29 +/- 12%). Serous carcinomas showed a gain of chromosome 1 (39.44 +/- 32%), followed by losses of chromosomes 6 (37.00 +/- 20%), 17 (36.44 +/- 19%), and 8 (36.89 +/- 19%). In borderline serous tumors, the most frequent findings were losses of chromosomes 6 (38.00 +/- 17%), 12 (36.88 +/- 17%), and 3 (36.13 +/- 21%). However, further research is necessary to substantiate these preliminary results and elucidate their clinical significance. A brief review of the literature pertaining to interphase cytogenetics in ovarian epithelial tumors is discussed also.

Chromosome Aberrations↗
PubMed1985

Chromosome abnormalities in human leukemia as indicators of mutagenic exposure.

It is from an analysis of these data that I proposed that losses of all or part of the long arm of chromosomes 5 and/or 7 may be indicators of exposure to mutagenic agents (8). Moreover, our analysis of the regions of chromosomes 5 and 7 that are consistently missing can define the critical region of each chromosome with some precision. Looked at from another perspective, the frequency of losses of chromosomes 5 and/or 7 may be an indicator of the proportion of ANLL in each particular population that is related to some mutagenic exposure. These aberrations are most frequent in cells of patients who were previously exposed to various cytotoxic regimens for treatment of a primary (usually malignant) disease; these patients are considered to have 2 degrees ANLL. Among patients with ANLL de novo, abnormalities of chromosomes 5 and 7 are much more frequent in older than younger patients. Finally, among adult patients with ANLL de novo, -5 and -7 are more common in those whose occupations could potentially expose them to mutagenic agents such as chemicals, pesticides, or petroleum products. With regard to chromosome 5, most of these deletions are interstitial and always include 5q23 through q31, which I have called the critical region. Although I am less certain with regard to chromosome 7, it appears that the critical region that is consistently deleted may be 7q32 or 7q34-35.

Adult↗
PubMed1996

Unusual chromosome abnormalities in primary central nervous system lymphoma.

Primary central nervous system (PCNS) lymphoma is a relatively rare disease. The Epstein-Barr virus (EBV) has often been implicated in the development of lymphomas. Few cytogenetic. studies on PCNS lymphomas have been reported. We describe here an unusual case of PCNS B cell lymphoma, centroblastic polymorphic type without coexistent immune deficiency. The cytogenetic study showed unusual abnormalities: t(l;9) (q25;p21); del (6) (q14 q25), trisomy 12 and in addition one clone with trisomy 7 and loss of chromosome X. We did not observe any chromosome 14 abnormality, which is more commonly reported in PCNS lymphomas.

Aged↗
PubMed1987

tdic(9;12): a nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: a Pediatric Oncology Group Study.

In a review of 432 children with newly diagnosed acute lymphoblastic leukemia (ALL), we identified a new nonrandom translocation, tdic(9;12)(p1?1;p1?2), in the leukemic marrow cells of eight patients. Seven had hypodiploid karyotypes that lacked chromosomes 9 and 12 and contained a der(12), tdic(9;12); the eighth had a pseudodiploid karyotype with two normal 9 chromosomes, one normal 12 and the der(12), tdic(9;12). Abnormalities involving chromosomes other than 9 and 12 were noted in four of the eight patients. All cells with the tdic(9;12) expressed both the common ALL antigen and HLA-DR. Cytoplasmic immunoglobulin, a marker of pre-B ALL, was detected in one case with the tdic(9;12) but was absent in the other seven. Our results suggest that the tdic(9;12)(p1?1;p1?2) rearrangement is specifically associated with leukemic B cell precursors.

B-Lymphocytes↗
PubMed1990

Progression of chromosome abnormalities after radiation therapy in a patient with Askin's tumor.

A patient previously reported to have Ewing's sarcoma showed a t(11;22) (q23;q11) and spontaneous expression of fra(11)(q23) [1]. Subsequent review of pathologic specimen indicated, however, that it was an Askin's tumor. Reciprocal translocations of chromosomes 11 and 22 are the most common cytogenetic abnormalities in Ewing's sarcoma and the related Askin's tumor. After radiation therapy of a residual metastatic brain lesion, subsequent studies of the recurrent brain tumor indicated the presence of the original translocations as well as five new reciprocal translocations and two deleted segments (9p-, 10p-). The new chromosome abnormalities were consistently found, indicating that progression of the tumor was clonal. The newly observed clonal aberrations were considered secondary in nature. A relationship between craniocerebral irradiation and development of brain tumors has been reported in several studies, but the mechanism for tumor induction has not yet been elucidated. It is important that the role of radiation therapy in the evolutionary process of chromosomal changes be studied in a large group of similar cases.

Adolescent↗
PubMed1977

Familial X-linked mental retardation with an X chromosome abnormality.

An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were found to have the abnormal X chromosome. The marker chromosome was shown to be the X chromosome in each case by Giemsa banding. In affected male and female carriers the marker chromosome varied in appearance and was not present in all metaphases. The significance of this study in relation to previously reported pedigrees showing non-specific X-linked mental retardation is discussed.

Adolescent↗
PubMed1992

Chromosome abnormalities in low-grade central nervous system tumors.

Ependymomas, oligodendrogliomas, and low-grade astrocytomas are slow-growing central nervous system (CNS) tumors that occur in both adults and children, whereas craniopharyngiomas and choroid plexus papillomas occur predominantly in children. We examined karyotypes of 32 of these low-grade tumors, including ten oligodendrogliomas, six ependymomas, 11 low-grade astrocytomas, four craniopharyngiomas, and one choroid plexus papilloma. Only normal karyotypes were obtained from 6 oligodendrogliomas. The rest had normal stemlines; three tumors had 45,X,-Y sidelines and one tumor had a sideline of monosomy 22. The most frequent abnormalities in the ependymomas were +7 (three tumors), -21 (two tumors), -22 (two tumors), and del(9)(p22) (two tumors). Gains of chromosome 7 and deletions of 9p were found more often in high-grade gliomas. Seven low-grade astrocytomas had normal stemlines, two had chromosome 7 abnormalities, a pilocystic astrocytoma had +der(15), and one tumor had a -Y sideline. The four craniopharyngiomas and one choroid plexus tumor were all apparently normal. The cytogenetics of low-grade CNS tumors differ from higher grade gliomas in that most low-grade tumors show little deviation from the normal karyotype.

Adolescent↗
PubMed1982

Contribution of chromosome abnormalities to human morbidity and mortality.

Estimates of the association of chromosome aberrations with various adverse health outcomes are as follows: embryonic and fetal death (5-28 weeks), 33%; stillbirths, 5-10%; infant and early childhood death, 5-7%; retardation (IQ less than 50), 20-35%; (IQ 50-69), 5-15%; criminality an d retardation or psychiatric disturbance in males, 3%; other criminality, 0.3-0.8%; birth defects, 2.5-8%; heart defects, 10%; subfertility or infertility, 2-8%; multiple miscarriages, less than 1 to 13%; male pseudohermaphroditism, less than 25%; and primary amenorrhea, 25%. Variations in rates reflect statistical fluctuations and variations in the selection of populations for study. The estimates are based on currently used techniques; cryptic structural rearrangements may also contribute significantly to these outcomes.

Chromosome Aberrations↗
PubMed1985

Burkitt cell acute lymphoblastic leukemia with partial expression of T-cell markers and subclonal chromosome abnormalities in a man with acquired immunodeficiency syndrome.

A 45-year-old white male, bisexual, with a 2-year history of acquired immunodeficiency syndrome (AIDS) prodrome, developed a Burkitt cell-like acute lymphoblastic leukemia (ALL). Marker studies of marrow blasts show an unusual and possibly unique pattern, in that an unequivocal monoclonal B cell leukemia, having K-IgM with HLA-DR and B cell subset antigen (BA-1) expression, was superimposed with a mature suppressor T cell marker profile (pan-T, mature T, and suppressor/cytotoxic T antigens). The leukemic blasts were totally negative for terminal deoxynucleotidyl transferase (TdT), human T cell leukemia-lymphoma virus (HTLV) p19 antigen, and other immunoglobulin isotypes. Chromosome analysis of marrow cells disclosed that 70% of the cells had 47,XY, + 12,t(8;14)(q24;q32) chromosome complement, and 30% of the cells had a 47,XY, + 12,dup1q + (q22-31),t(8;14)(q24;q32). The consistent finding of the specific chromosome rearrangement (8/14 translocation) in all abnormal cells suggests that the cells were derived from a common precursor. With regard to the partial T cell marker expression, the significance of these markers in B cell leukemia is unclear, as is their relation to the additional chromosome abnormalities that apparently developed in the process of clonal evolution.

Acquired Immunodeficiency Syndrome↗