Variant Philadelphia translocations in chronic myeloid leukemia: A report of five cases.

The t (9;22)(q34;q11) translocation is found in about 90% of the chronic myeloid leukemia patients. About 5-10% of these patients have complex variant translocations involving a third chromosome in addition to chromosomes 9 and 22. We describe five male patients in the chronic myeloid leukemia-chronic phase, with rare variant Philadelphia translocations.

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.

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%).

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.

del(2)(p23) as a sole abnormality in a case of acute myeloid leukemia.

We report a case of acute myeloid leukemia (AML) [FAB-M5a] showing a deletion of the short arm of chromosome 2 at band p23 as a sole abnormality in the bone marrow cells. This abnormality deserves to be considered as an established nonrandom entity in AML.

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).

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.

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.

Cytogenetics of non-small cell lung cancer: simple technique for obtaining high quality chromosomes by fine needle aspirate cultures.

Cytogenetic analysis of six non-small cell lung carcinomas (NSCLC) was carried out on overnight cultures of tumor material obtained from transthoracic fine needle aspirates to determine karyotype changes involved in the early stages of the disease. Multiple chromosome alterations were characterized. Numerical abnormalities included additional copies of chromosomes 3, 7, 8, 16, 17, and loss of chromosomes 1, 2, 6, 9, 12, 20, 21, and 22.

Normal expression of fra(3)(p14.2) in lymphocytes of lung cancer patients.

Fragile site (FS) analysis was performed in 10 bronchogenic carcinoma families (non-small cell type) each represented by the patient and one adult offspring. Twenty age- and sex-matched controls were evaluated simultaneously for FS expression. The question whether increased fragility at band 3p14 exists in lung cancer patients or their offspring was examined.

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 fragile sites in patients with retinoblastoma, their parents, and unaffected siblings: a study of ten families.

The expression of fragile sites (FS) in the blood lymphocytes of 54 individuals, including 11 retinoblastoma (Rb) patients, their clinically healthy family members, and corresponding age- and sex-matched controls is presented. 5-fluorodeoxyuridine (5-FdU) and caffeine were used for FS induction. Enhanced expression of fra(13)(q13.

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.

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother.