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Biomedical subjects

C C So

Publications and source records attributed to C C So.

33 records · Page 2Linked to original sources
PubMed2000

Large cell transformation of Sézary syndrome. A conventional and molecular cytogenetic study.

Hyperdiploidy sometimes is found in mycosis fungoides-Sézary syndrome, but its diagnostic significance remains undefined. We report an unusual case of Sézary syndrome manifesting with leukemic large cell transformation. Conventional karyotypic analysis showed the presence of a near-tetraploid neoplastic clone. With dual-color cytometric analysis, we showed that the large Sézary cells were near-tetraploid with a DNA index of 1.86, thereby demonstrating a direct relationship between cell size and ploidy. Comparative genomic hybridization further showed chromosomal imbalances that were not revealed on conventional karyotyping. Our findings suggest that hyperdiploidy may be a marker of large cell transformation, so that when this karyotypic abnormality is found in mycosis fungoides-Sézary syndrome, a search for such a complication is indicated.

Aged↗
PubMed1999

Translocation (12;17)(q13;q23) in de novo acute myeloid leukemia with trilineage myelodysplasia.

12q13 abnormalities have been reported to be associated with a variety of benign and malignant solid tumors. Recently, they have been shown to be a nonrandom karyotypic change in acute myeloid leukemia. We report a case of de novo acute myeloid leukemia with trilineage myelodysplasia showing t(12;17)(q13;q23) as the sole chromosomal abnormality. A review of the literature indicates that 12q13 translocation in acute myeloid leukemia is often associated with concomitant dysmyelopoietic changes. There is also evidence to suggest that 12q13 translocation occurs more frequently in acute myeloid leukemia with a prior history of mutagenic exposure or karyotypic indicators of secondary leukemia.

Acute Disease↗
PubMed1999

A man with natural killer cell lymphoma showing 46,XX and deletion 6q.

Specific chromosomal abnormalities have been shown to be associated with certain types of leukemia and lymphoma. We and others have recently demonstrated del(6)(q21q25) as being strongly associated with natural killer cell lymphoma/leukemia. In this report, we describe a case of natural killer cell lymphoma with a clonal chromosomal abnormality of 46,X,-Y,+X,t(2;9)(q31;p24), del(4)(q21q25),del(6)(q21q23), and propose that the region 6q23 is probably an important site of genetic alteration in this group of tumors.

Adult↗
PubMed1999

BCR/ABL translocation in adult acute lymphoblastic leukemia: a comparison of conventional and interphase cytogenetic studies.

Twenty-four adult Chinese patients with de novo acute lymphoblastic leukemia (ALL) were studied for the BCR/ABL translocation using both conventional cytogenetics and fluorescence in situ hybridization (FISH). Eight (33%) patients had the translocation as shown by FISH and all were B-lineage ALL (8/19, 42%). Conventional cytogenetics revealed a t(9;22)(q34;q11) in six of them, but was either unsuccessful, or not done in the other two. Seven of the eight positive cases (88%) showed a breakpoint at the minor breakpoint cluster region (m-BCR), which was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR). To conclude, the frequency of BCR/ABL translocation in Chinese patients with de novo ALL is comparable to patients in the Western hemisphere, in contrast to a previous report. The predominance of m-BCR/ABL fusion among these Chinese patients with BCR/ABL translocation is also similar to patients in the Western population. Fluorescence in situ hybridization is a sensitive, specific and relatively simple technique for demonstrating this important unfavorable prognostic marker in ALL, even in a routine service laboratory setting.

Adult↗
PubMed1999

Cytogenetic divergence of the same blastic clone in transformed chronic granulocytic leukemia: no effect on morphologic and immunologic features.

A 19-year-old man with Ph-positive chronic granulocytic leukemia developed lymphoblastic transformation. Cytogenetic evolution was observed, with an abnormal clone showing i(17q) together with the t(9;22). Chronic phase of the chronic granulocytic leukemia were re-established with systemic chemotherapy, which also led to disappearance of the clone with i(17q). However, the acute lymphoblastic leukemia relapsed after 6 weeks, with the emergence of a phenotypically and genetically identical but cytogenetically distinctive clone. Our findings suggest that cytogenetic evolution in transformed chronic granulocytic leukemia reflects only the instability of the blastic clones, and may not determine its phenotypic differentiation.

Adult↗
PubMed1999

Chronic myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98/HOXA9 fusion.

Translocation (7;11)(p15;p15) is a recently characterized chromosomal abnormality that results in fusion of the NUP98 gene on 11p15 and the HOXA9 gene on 7p15. It shows a strong racial predisposition, being found predominantly in Oriental patients, and has been reported almost exclusively in acute myeloid leukemia, often with associated myelodysplastic changes. In this report, we describe the unique occurrence of t(7;11)(p15;p15) and NUP98/HOXA9 fusion in a patient with chronic myelomonocytic leukemia, and suggest that the genetic lesion may involve multipotential myeloid stem cells.

Adult↗
PubMed1998

De novo AML with trilineage myelodysplasia and a novel t(11;12)(p15;q13).

De novo acute myeloid leukemia with trilineage myelodysplasia (AML/TMDS) is an uncommon form of leukemia characterized by a dyshematopoietic picture accompanying the acute leukemia, a poor response to induction chemotherapy, and a tendency to relapse with pure myelodysplastic syndrome. Cytogenetic information on this entity is scarce, although some cases have been reported to be associated with t(7;11)(p15;p15). A 41-year-old woman who had a history of radiotherapy for breast cancer presented with AML/TMDS and was found to have a unique t(11;12)(p15;q13) abnormality.

Adult↗
PubMed1998

Translocation(8;20;21)(q22;q13;q22) in acute myeloblastic leukemia with maturation: a variant form of t(8;21).

A 39-year-old man was diagnosed as having acute myeloblastic leukemia with maturation (AML-M2). Cytogenetic studies revealed 45,X,-Y,t(8;20)(q22;q13)[21]/46,XY[3]. Molecular analysis of the marrow mononuclear cells by reverse transcription-polymerase chain reaction with nested AML1 and ETO primers showed amplification of the AML1/ETO fusion transcript, thus confirming that the chromosomal aberration was in fact a masked t(8;21), i.e., variant t(8;20;21)(q22;q13;q22).

Adult↗
PubMed1997

Phaeochromocytoma with adult respiratory distress syndrome mimicking septicaemic shock.

Phaeochromocytomas are rare tumours that most commonly present with chronic sustained hypertension and hypertensive paroxysms or crises. We report a 49-year-old woman with unsuspected phaeochromocytoma who presented with sudden onset of profound hypotension and adult respiratory distress syndrome unresponsive to fluid and inotropic support. This case illustrates the diversity of presentations of phaeochromocytoma, depending on the type and amount of catecholamines secreted.

Adrenal Gland Neoplasms↗
PubMed1997

Biclonal B-cell chronic lymphocytic leukemia with inv(14)(q11q32).

Cytogenetic biclonality is a rare occurrence in chronic lymphocytic leukemia. A 59-year-old man was diagnosed to have B-cell chronic lymphocytic leukemia with typical morphology and immunophenotype (CD5+, CD19+, and CD23+). However, karyotypic analysis of the small lymphocytes showed the presence of two distinct unrelated clones, including one with inv(14).

Aged↗
PubMed1997

Is antenatal antibody screening worthwhile in Chinese?

A total of 1997 pregnant women were screened during their first antenatal visit for irregular antibodies for the prevention of haemolytic disease of the newborn. Patient sera were tested against a panel of group O screen cells including one with the expression of Miltenberger determinants GP.Mur. 17 women (0.85%) had irregular antibodies of which four were of potential clinical significance, including one with anti-D, two with anti-E and one with anti-D, anti-E and anti-G. Although antenatal antibody screening is mandatory in Western populations, our results suggest that this may not be necessary in the Chinese population except for those who are Rh D-negative or who have a history of haemolytic disease of the newborn.

Adolescent↗