PubMed · 5191616
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K Hongell. 1968. [Chromosome abnormalities].. https://pubmed.ncbi.nlm.nih.gov/5191616/
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Clonal chromosomal aberrations are reported in about 25% of the patients with hairy cell leukemia (HCL). No consistent cytogenetic abnormality has been described in HCL; most of the chromosomal changes found have been deletions and inversions, with the rare occurrence of translocations. While most of the chromosomal aberrations in HCL are common to the ones found in B cell chronic lymphocytic leukemia and other B cell lymphoproliferative disorders, there are also certain chromosomal changes that are not found in other B cell lymphoproliferative disorders. We present here a 63-year-old male patient with hairy cell leukemia with the clonal del(17)(q25), which has not previously been reported in HCL.
We report the case of a 49-year-old woman who presented with a monoclonally IgG kappa expressing myeloma since October 1989. Four years later, after 24 cycles of Melphalan-containing chemotherapy, bone marrow (BM) cells of the patient cytologically revealed myelodysplastic changes for the first time. Cytogenetic examination of the BM obtained in January 1994 showed two clonally aberrant main lines. Each of them represented one of the hematological neoplastic diseases. The quantitatively major clone (MDS-clone) showed a deletion of the long arm of chromosome 7, typical for secondary myeloid disorders. The other clone (myeloma (MM) clone) was characterized by a reciprocal translocation between the short arm of chromosome 8, band q24, a region known to contain the c-myc gene, and the long arm of chromosome 2, band p12, where the Ig kappa gene is located. An unusual finding, however, was that an abnormality of the long arm of chromosome 16 could be detected in both obviously unrelated clones. In the further course of the disease, the MDS and MM clones could be detected, both of them showing cytogenetically a clonal evolution characterized by additional clonal abnormalities. Our data stress the significance of cytogenetics in detecting typical clonal abnormalities in different malignant hematological disorders and in detecting "clonal evolution" as an indicator of the progress of the disease. Moreover, our data suggest that MM and MDS may arise from a common stem cell, which may be characterized by a clonal cytogenetic abnormality.
OBJECTIVE: To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening. DESIGN: A retrospective study of 459 pregnancies. SETTING: Fetal Medicine Unit, Royal Free Hospital. PARTICIPANTS: Four hundred and fifty-nine pregnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1:250) based on the results of mid-trimester biochemical markers (maternal serum free beta human chorionic gonadotrophin and alpha-fetoprotein). MAIN OUTCOME MEASURES: The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated. RESULTS: Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n = 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had likelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21. CONCLUSION: The presence or absence of abnormal ultrasonographic markers can significantly change the risk of Down's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counselling such women.