Sole Clonal Abnormality Research Articles

T(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a heterogeneous group of diseases with a multitude of molecular genetic aberrations and variable clinical outcome. Clonal chromosomal abnormalities have been identified in over 50% of AML cases, and have been regarded as one of the most important prognostic markers. We present a case of a 56-year-old Hispanic man with AML with minimal differentiation. Morphologically, the bone marrow was hypercellular with trilineage hypoplasia and 80% blasts. Flow cytometry analysis showed that the blasts were of myeloid immunophenotype. Conventional cytogenetic analysis showed t(1;3)(p36;p21) as the sole cytogenetic abnormality in 5 of 20 metaphases analyzed. The patient received daunorubicin and cytarabine, and achieved first remission. He relapsed 4 months later, and was treated with fludarabine, cytarabine, idarubicin, and G-CSF, and consolidated with high-dose cytarabine. He then received matched related stem cell transplantation. However, the disease relapsed again, and the patient died 11 months after initial diagnosis. To our best knowledge, this is the first report of t(1;3)(p36;p21) as the sole cytogenetic abnormality.

T(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia

t(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia

Translocation (X;12)(p11;p13) as a sole abnormality in biphenotypic acute leukemia

A reciprocal t(X;12)(p11;p13) was found as the sole clonal abnormality in biphenotypic leukemia with myeloid and B-lymphoid differentiation. With fluorescence in situ hybridization analysis, the ETV6 gene (previously TEL) was found to be translocated intact to the derivative X chromosome; no MLL and BCR/ ABL rearrangements were found. The patient achieved complete remission after induction chemotherapy. To our knowledge, this cytogenetic aberration has not been reported previously as a sole abnormality in hematological malignancies. Its presence may suggest an important role in the pathogenesis of biphenotypic leukemia.

Trisomy 3 as the Sole Karyotypic Change in a Pediatric Immature Teratoma

Cytogenetic analysis of short-term cultured cells from an immature ovarian teratoma of a 9-year-old girl disclosed an extra copy of chromosome 3 as the sole clonal abnormality. The fact that trisomy 3 was previously reported as the only karyotypic change in two ovarian germ-cell tumors—one teratoma NOS and one immature teratoma—suggests that gain of chromosome 3 constitutes an early and pathogenetically important change in a subset of female germ-cell tumors.

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 (AML0M6). Chromosome analysis of the marrow revealed 48,XX, + 21, + 21 as the sole clonal abnormality.

Karyotypic changes in phyllodes tumors of the breast

Cytogenetic analysis of short-term cultures of five phyllodes tumors of the breast-classified as benign (one tumor), borderline malignant (two tumors removed from the same breast in 1991 and 1993), and malignant (two tumors) - revealed clonal changes with simple structural abnormalities in the benign tumor, the borderline malignant tumors, and one malignant tumor in which benign areas and areas of borderline malignancy were also present. In contrast, the malignant tumor without admixed borderline malignant or benign areas had a complex karyotype. The karyotype of the benign phyllodes tumor was 46,XX,del(12)(p11p12)/46,XX,t(8;18)(p11;p11)/46,XX. The first borderline malignant phyllodes tumor had t(3;20)(p21;q13) as the sole abnormality. When the tumor recurred, this was no longer the only clone detected and the tumor karyotype was now 46,XX,t(3;20)(p21;q13)/46,XX,t(9;10)(p22;q22)/46,XX,t(1;8)(p34;q24)/46,XX,del(11)(q22–23)/46,XX. The malignant/borderline malignant/benign tumor had t(1;6)(p34;p22) as the sole clonal abnormality. Finally, the karyotype of the malignant phyllodes tumor which contained no benign or borderline malignant areas was 42,XX,der(1)t(1;4)(q21;q21),der(3)t(3;17)(q29;q21), −4,i(8)(q10), −10, −13,i(13)(q10),der(14)t(1;14)(q21;p11),der(14)t(4;14)(p12;p11), −17/80–90,idemx2, +del(1)(q12), +i(1)(p10), +dic(5;5)(p14;p14), +i(6)(p10), +del(7)(p11), +dup(7)(q11q36), +i(15)(q10),inc/46,XX. The findings indicate some cytogenetic similarities between benign/borderline malignant phyllodes tumors and fibroadenomas of the breast, presumably reflecting similar pathogenetic mechanisms in the two types of mixed-lineage tumors.

Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization

We report three cases of meningioma. Case 1 had a dicentric chromosome number 22 resulting in partial monosomy for a portion of the q-arm, i.e., 46,XX,idic(22)(pter→q11.2: :q11.2→pter) and 46,XX,psu dic(22)(pter→q11.2: :q11.2→pter), which was the sole clonal abnormality. The origin of the dicentric chromosome from 22 was confirmed by in situ hybridization studies, using biotinlabeled α centromeric DNA probes for the acrocentric chromosomes. Case 2 had two distinct clonal abnormalities: deletion of 22q and monosomy of 22. Case 3 also had a deleted 22q.

Interstitial 9q deletion: A primary change in a case with splenomegaly of unknown origin

In a case with splenomegaly of unknown origin and features of hypersplenism, an interstitial 9q deletion was identified as a sole clonal abnormality of bone marrow cells. The meaning of 9q deletion as a primary change, as well as its clinical significance, are considered.

Cytogenetic study of four cancers of the prostate

We cytogenetically studied four cases of adenocarcinoma of the prostate. All tumors were moderately differentiated or well-differentiated, with different degrees of invasion. One tumor with microscopic seminal vesicle invasion and lymph node metastasis (tumor 4) had trisomy 7 as a sole clonal abnormality, suggesting that this is a primary change in some prostatic tumors. Although only normal karyotypes were observed in the other three tumors, several nonclonal changes were evident. Monosomy 9 or deletion of the long arm of 9 was observed in at least one cell in the three tumors without trisomy 7. Furthermore, in one of these tumors (tumor 3, moderately differentiated), several rearrangements (five of 26 cells) were observed, two of which had a common breakpoint at 15q11. Although complex chromosome changes including del(10q) and del(7q) have been described in prostatic tumors, they were not observed in the four tumors studied. This is the first report of a prostate tumor with trisomy 7 as a single clonal chromosome abnormality.