Acquired pericentric inversion of chromosome 9 in acute myeloid leukemia.

Pericentric inversion of chromosome 9 involving the qh region is relatively common as a constitutional genetic aberration without any apparent phenotypic consequences. However, it has not been established as an acquired abnormality in cancer. Among the three patients reported so far in the literature with acquired inv(9), only one had acute myeloid leukemia (AML). Here we describe an unique case where both chromosomes 9 presented with an acquired pericentric inversion with breakpoints at 9p13 and 9q12 respectively, in a AML patient with aberrant CD7 and CD9 positivity. Additionally, one der(9) also showed short arm deletion at 9p21 to the centromeric region and including the p16 gene. The constitutional karyotype was normal. This is probably the first report describing an acquired inv(9) involving both chromosomes 9 in AML. The possible significance of this inversion is discussed.

Submandibular synovial sarcoma with t(X;18) and synovial sarcoma of the toe with additional cytogenetic abnormalities: presentation of two cases and review of the literature.

We report cytogenetic findings from fine-needle aspiration samples of two synovial sarcoma patients. The cases are of interest because (1) one case is of a rare site (submandibular region) of the head and neck, and (2) the other is a patient with synovial sarcoma of the toe showing additional cytogenetic abnormalities along with t(X;18). The literature of this tumor is reviewed.

Rhabdomyosarcoma: cytogenetics of five cases using fine-needle aspiration samples and review of the literature.

Cytogenetic analyses of fine-needle aspiration samples were performed on five cases of which three were alveolar rhabdomyosarcomas (RMS), one was embryonal RMS and one was RMS of mixed alveolar and embryonal histology. Three cases of alveolar RMS and one case of embryonal RMS showed t(2;13). A del(1)(p11) in a mixed alveolar and embryonal RMS was observed without the presence of t(2;13). add(17)(q25) was present in one of the alveolar RMS along with a t(2;13). Modal number of chromosome in the five cases ranged from hyperdiploid to hypertetraploid. Clinical, cytological, histopathological and cytogenetic findings are correlated. The role of additional abnormalities is discussed with a review of appropriate literature.

Cytogenetics of neuroblastoma: a study using fine needle aspiration cultures.

Neuroblastoma is associated with chromosomal aberrations of 1p and 1q in a majority of cases. Some nonrandom secondary changes were observed in this study. The role of these changes in the development and progression of neuroblastoma is examined. Chromosomal analysis was performed on 33 children with neuroblastoma using fine needle aspiration cultures. Metaphases were observed in 57.5% of cases. 86.6% showed the involvement of chromosome 1. Double minutes and unidentifiable markers was also observed. The most frequent secondary changes included add(4)(q35), add(11)(p13), add(14)(q32), add(16)(q12). add(17)(p13), add(19)(q12) and add(21)(q22). Minority of cases showed deletions and translocations. Ploidy pattern ranged from diploid to hypotetraploid. The present study substantiates aberration of chromosome 1 in the form of deletions, additions, duplications and iso-chromosome with some notable secondary abnormalities.

Cytogenetic characterization of Ewing tumors using fine needle aspiration samples. a 10-year experience and review of the literature.

Chromosomal analysis was performed in fine needle aspiration samples of 98 primary Ewing tumors (ETs) prior to treatment. Among the 58 (59.18%) successful cultures, t(11;22)(q24;q12) was observed in 87.9% and 6.8% had abnormalities other than t(11;22), viz., del(22)(q12), der(16)t(1;16)(q12;q11), and variant t(8;22)(q24;q12). Involvement of breakpoints 1q21, 1q22, 3p14, 16q22, and 17p13 was also observed. Numerical abnormalities such as trisomies 8 and 12 were found in 29.3% and 20.6% and trisomy 18 in 17.2%. An attempt was made to evaluate the role of these additional changes in the process of tumor development, metastasis, and progression of the disease. This is the largest cytogenetic study on ET from a single center using a simple and reliable technique of fine-needle aspiration culture. The literature on cytogenetics of ET is reviewed.

Persistence of chromosomal aberrations in blood lymphocytes 11 years after cessation of CMF therapy in a breast cancer patient.

Chromosomal aberrations were examined in a breast cancer patient 11 years after cessation of cyclophosphamide methotraxate and 5-fluorouracil (CMF) therapy. This indicates that they may well be derived from a population of genetically damaged progenitor cells, from which abnormal and possibly malignant cell clones may have been generated, and a fraction of these randomly occurring chromosome rearrangements appear to be 'stable'.

Tetrasomy 21 as a sole abnormality in erythroleukemia.

A 13-year-old girl presented with swelling in the neck, fever, bleeding of the gums, and hepatosplenomegaly. Bone marrow morphology was suggestive of erythroleukemia (AML-M6). Chromosome analysis of the marrow revealed 48,XX, +21, +21 as the sole clonal abnormality.

Double minutes and premature chromosome condensation in blood lymphocytes of four breast cancer patients.

Double minutes (dmin) and premature chromosome condensation (PCC) were observed in the peripheral blood lymphocytes (PBL) of four breast cancer patients using GTG banding. Among 53 breast cancer patients studied, four cases revealed dmin of which one case had PCC along with dmin. PCC might be an indicator of the spontaneous proliferative potential of tumor cells manifested in lymphocytes as a rare phenomenon. The presence of dmin represents amplified genes (well documented in different types of tumors), but their presence in PBL has rarely been reported in the literature. These findings in PBL might indicate that defective genetic/molecular mechanisms expressed generally in tumor tissue are also manifested in a similar manner in the circulating lymphocytes of patients at a lower frequency.

Chromosomal abnormalities in the lymphocytes of a male patient with breast cancer.

Blood lymphocyte cultures of a male with carcinoma of the breast revealed both numerical (hypodiploidy and hyperdiploidy) and structural abnormalities. Only few cases of male breast cancer have been cytogenetically characterized. Earlier studies revealed normal karyotypes in peripheral blood cultures of male breast cancer patients and abnormalities only in the tumor tissue. The present report describes 16.6% abnormal metaphases detected in the peripheral blood lymphocytes. Numerical abnormalities were loss of chromosome 9 and 19 and gain of chromosome 7. Structural abnormalities were a cell with marker, del(11)(q22-23) and dic(7;19)(q36;p13). These abnormalities are compared with male and female tumor karyotypes reported in the literature.

Chromosomal aberrations in peripheral blood lymphocytes of breast cancer patients prior to any therapy.

In a study comprised of 53 breast cancer patients, chosen for determining the cytogenetic damage to peripheral blood lymphocytes (PBL) due to cancer therapy, eleven patients revealed chromosomal abnormalities in 3.18% of cells prior to any such therapy. Age matched controls showed 0.18% abnormal cells. Statistical analysis of the abnormal cells in patients prior to therapy and normal controls revealed significant values at 1% level (p < 0.01). The factors causing "chromosome instability" causing chromosome breakage or whether any clastogenic metabolites produced by the tumor itself is triggering neoplastic transformation are discussed.