T.S. Sundareshan

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.

Primitive neuroectodermal tumor of the kidney. A report of two cases diagnosed by fine needle aspiration cytology.

BACKGROUND Primitive neurocetodermal tumors (PNETs) constitute a family of neoplasms of presumed neuroectrodermal origin most often presenting as bone or soft tissue masses. There are very few reported cases of PNET of the kidney and none diagnosed by fine needle aspiration cytology (FNAC), to the best of our knowledge, in the world literature. We present two cases of renal PNET diagnosed on cytology. CASES Two patients with renal masses were diagnosed as having PNET on FNAC. Cytologically the tumors showed a dispersed population of malignant small round cells with focal rosette formation and perivascular arrangement of tumor cells. Immunohistochemistry on the cell blocks in both cases showed strong membrane positivity for CD99 (MIC2). Cytogenetic studies in both cases showed the characteristic t(11;22)(q24;q12) translocation, with additional chromosomal abnormalities in case 2. CONCLUSION PNET of the kidney is a distinct entity and can be diagnosed on fine needle aspiration smears and confirmed with immunohistochemistry and cytogenetic studies. A diagnosis of PNET must be included in the differential diagnosis of renal masses in adolescents and young adults.

Variant complex translocation t(8;15;21) in acute myeloblastic leukemia (M2) associated with bilateral chloroma.

Complex translocation t(8;15;21)(q22;q21;q22) in a 9-year-old female with acute myeloblastic leukemia (M2) with bilateral chloroma is described. This particular variant type of translocation in M2 type is rare. The importance of variant translocation in defining the critical segment on the chromosomes responsible for phenotypic expression of the disease is emphasized.

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.

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.

Expression of common fragile sites in lymphocytes of Wilms tumor in patients, their parents, and siblings.

Fragile site expression in blood lymphocytes of 56 individuals, including 11 Wilms tumor patients, family members, and controls, was studied by 5-fluorodeoxyuridine induction with caffeine enhancement. Significantly elevated expression of fra(11)(p13) was observed in the patient group, compared with controls. One patient clinically diagnosed with the Wilms tumor, aniridia, and genitourinary and retardation (WAGR) syndrome revealed constitutional deletion of 11p13. Expression of fra(11)(p13) in this individual was observed only on the nondeleted homologue. Among the family members studied, only one sibling showed elevated expression of fra(11)(p13).

Cytogenetic study of non-Hodgkin lymphoma from South India: histologic and geographic correlations

Cytogenetic analysis of fine needle aspiration cultures was performed on 189 patients with non-Hodgkin lymphoma from South India. Successful karyotyping was possible in 97 patients (51.3%). Burkitt lymphoma constituted 56% of the cases studied followed by diffuse type 20%, follicular 8.8%, lymphoblastic 6.6%, and unclassified 6.6%. Characteristic chromosomal translocations were t(8;14)(q24;q32) [32.2%], t(8;22)(q24;q11) [10%], t(2;8)(p12;q24) [2.2%], t(14;18)(q34;q21) [3.3%], and t(11;14)(q23;q32) [2.2%]. Notable geographical variation of some structural abnormalities was the finding in the present study such as, lower frequency of t(14;18) in follicular lymphomas and higher frequency of t(8;14) in Burkitt lymphomas when compared with the Western studies.

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.

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.

Genetic susceptibility to oral cancer and the expression of common fragile sites. a study of 100 patients.

The expression of bleomycin-induced fragile sites (FS) in the blood lymphocytes of 150 individuals (100 oral cancer patients and 50 age and sex matched controls) is described. FS expression frequencies in oral cancer patients were significantly higher when compared with controls. FS expression was site specific in oral cancer patients. Chromosome 5 was the most affected, with four of its FS expressing in high frequencies. Enhanced expression of FS at the centromeric region was observed in the patient group. This study emphasizes the role of FS in the genetic susceptibility to oral cancer.