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Biomedical subjects

S N Sait

Publications and source records attributed to S N Sait.

14 recordsLinked to original sources

A uterine leiomyoma showing both t(12;14) and del(7) abnormalities.

The involvement of chromosomes 12 and 14 in uterine leiomyomas has been well established. However, in a recent report of only a del(7)(q22.1q31.32) or (q11.2q22.3) in two cases of typical uterine leiomyoma, Boghosian et al. hypothesized that this could represent a cytogenetic subgroup of uterine leiomyomas. We report a case of uterine leiomyoma with both the t(12;14) and del(7) in all the cells examined and discuss the implications of this in terms of critical chromosomal rearrangements underlying the route to benign cellular proliferation.

Chromosome Deletion

Consistent chromosome changes in leiomyosarcoma.

Karyotypic analysis of a leiomyosarcoma of the retroperitoneum revealed some structural and numerical changes. Review of the literature showed that some of these changes, namely involvement of 1p13 and 11p13 and monosomy 9, 18 and 22 seemed to occur frequently. These changes could be characteristic of leiomyosarcoma and define a cytogenetic subgroup within this tumor entity.

Chromosome Aberrations

An acquired Robertsonian translocation dic(14;14)(p11;p11) in a patient with a myelodysplastic syndrome following treatment of multiple myeloma.

Acquired Robertsonian translocations are considered to be very rare chromosome changes in human malignancy, and only three cases have been described. We report a dic(14;14)(p11;p11) in a patient with myelodysplastic syndromes (MDS) following treatment for multiple myeloma. This patient also had other complex chromosomal abnormalities. The pattern of karyotype evolution in this patient was established by a series of cytogenetic studies. The relationship of the complex chromosomal changes to MDS following treatment for multiple myeloma is discussed.

Aged

Chromosome changes in metastatic human melanoma.

Cytogenetic studies were performed on human malignant melanoma cells from eight metastatic lesions. Five tumors displayed near-triploid and three near-diploid chromosome numbers. Chromosomes #1, #6, #7, followed by #2 and #9, were found to be most frequently involved in structural aberrations. Aberrations involving chromosome #1, with deletions or translocations of 1p, involving region 1p12-1p22 in seven of eight breakpoints of the p arm were observed. Seven of nine breakpoints of 6q were located at region 6q15-6q21. Most of the breakpoints on chromosome #7 occurred near the centromeric region. All tumors had additional chromosome material involving 1q, chromosome #7 (7q in two tumors), and in five tumors an increased dose of chromosome #6 (6p in one tumor). The nonrandom breakpoints of these and other chromosomes involved diverse bands, including loci of oncogenes and fragile sites. The observation of nonrandom chromosomal changes in advanced malignant melanoma suggests that genes important in the progression of melanoma are located on chromosomes #1, #6, and #7.

Adult

A t (11;21) (13;q22) in Ph-positive chronic myelogenous leukemia.

Reciprocal translocations, in addition to that of the Ph chromosome, though rare, have been reported in chronic myelogenous leukemia (CML). We describe here a case of Ph-positive CML with a new translocation, t (11;21) (q13;q22), and missing Y, which were present both during transformation to the blastic crisis and in the subsequent reversion to the chronic phase. The possible significance of this abnormality is discussed.

Aged

Complex cytogenetic changes in Ph-negative chronic myelogenous leukemia.

A Ph-negative chronic myelogenous leukemia (CML) with t(3;7)(q21;q32), t(4;9)(q21;q34), and del(8)(q22) is reported. This case is rather unusual for Ph-negative CML in being associated with complex chromosome changes. The patient was diagnosed as in the accelerated phase of CML. It will be important to study this malignant disorder in detail cytogenetically and molecularly in order to ascertain its nature and place among the myeloproliferative disorders.

Adult

Translocation t(1;22) in congenital acute megakaryocytic leukemia.

Acquired chromosomal abnormalities have been reported in 80 patients with congenital acute leukemia, the commonest being t(4;11). We report here a case of acute megakaryocytic leukemia with a rare translocation of t(1;22)(p13.3;q13.3). The course of the disease was short, with the patient surviving less than a year after the initial diagnosis.

Chromosomes, Human, Pair 1

Translocation t(6;9)(p22.3;q34) in myelodysplastic syndrome--refractory anemia with excess blasts.

A 69-year-old male patient with refractory anemia with excess blasts (RAEB) was found to have a consistent chromosomal abnormality, t(6;9)(p22.3;q34), in the bone marrow and unstimulated peripheral blood cells. Twenty patients with t(6;9) and leukemia have been reported; some of them had a myelodysplastic syndrome (MDS) before developing overt ANLL. Our patient was still in the MDS stage when the t(6;9) was found. This result suggests that t(6;9) represents one of the pathways from MDS to leukemia in patients with ANLL.

Aged

Recurrent involvement of 11q13 in acute nonlymphocytic leukemia.

Rearrangements of 11q have been associated with acute nonlymphocytic leukemia (ANLL), particularly M4 and M5 (FAB classification). Though 11q23 is most often involved, 11q13 is also affected. We report two cases of ANLL with translocations involving band 11q13.

Aged

A t(1;11) in acute nonlymphocytic leukemia FAB type M4.

Abnormalities involving the long arm of chromosome #11 have been shown to be involved in a high proportion of acute nonlymphocytic leukemias, specifically FAB types M4 and M5. In particular, band 11q23 seems to be preferentially affected. Reported herein is a case of acute nonlymphocytic leukemia type M4 showing a t(1;11)(q21;q23).

Acute Disease

Trisomy 4: an entity within acute nonlymphocytic leukemia.

Trisomy 4 is a newly recognized primary chromosome change in leukemia. Five cases of acute nonlymphocytic leukemia (ANLL) are described from the United States and France. As in cases from Belgium, the only chromosome abnormality detected in the leukemic cells was trisomy 4. This was associated preferentially with ANLL of the M4 type (by FAB classification): acute myelomonocytic leukemia.

Acute Disease