1
TI: Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.
AU: Nakayama-T; Sakakihara-Y; Hanaoka-S; Akagi-K; Kamoshita-S
SO: Acta-Paediatr-Jpn. 1993 Aug; 35(4): 340-4
AB: A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1-->qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,XX,t(5;18)(q35.1;q23). The patient shows mild mental retardation, short stature, mild obesity, dysmorphic face, eczema, minor malformations of the extremities, and bilateral intracranial calcification in the basal ganglia. Most of the clinical manifestations of the patient are compatible with the previously reported clinical features of partial trisomy of the distal segment of 5q. However, the calcification of bilateral basal ganglia has not been reported for this chromosomal anomaly.
2
TI: Chronic ventilator-assisted children in university hospitals in Japan.
AU: Sakakihara-Y; Yoneyama-A; Kamoshita-S
SO: Acta-Paediatr-Jpn. 1993 Aug; 35(4): 332-5
AB: The status of chronic ventilator-assisted children admitted to university hospitals in Japan was investigated. Of 81 university hospitals which responded to the survey, 52 hospitals had admitted 102 patients requiring chronic ventilatory support. More than 60% of the patients were suffering from neurologic disorders. Werdnig-Hoffmann disease was the most common disease, followed by hypoxic-ischemic encephalopathy, congenital heart disorders and various myopathies. The average duration of ventilator care was 823 days. Only nine patients were weanable from the mechanical ventilation. Although the population of chronic ventilator-dependent patients was not large, the chronic nature of the basic disorders and the need for intensive care of the patients have raised serious social and medical issues.
3
TI: Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc.
AU: Hashimoto-N; Sakakihara-Y; Miki-Y; Kagawa-J; Egi-S; Kamoshita-S
SO: Acta-Paediatr-Jpn. 1993 Apr; 35(2): 144-7
AB: A 17 year old male patient with Moebius syndrome with pituitary dwarfism and unilateral hypoplastic optic disc is presented. Although there have been several reports of an association of Moebius syndrome and pituitary dysfunction, growth hormone deficiency has not been reported previously. These associations may give some insight into the pathogenesis of Moebius syndrome.
4
TI: An ets-related gene, ERG, is rearranged in human myeloid leukemia with t(16;21) chromosomal translocation.
AU: Shimizu-K; Ichikawa-H; Tojo-A; Kaneko-Y; Maseki-N; Hayashi-Y; Ohira-M; Asano-S; Ohki-M
SO: Proc-Natl-Acad-Sci-U-S-A. 1993 Nov 1; 90(21)
AB: The t(16;21)(p11;q22) translocation is a nonrandom chromosomal abnormality found in several types of myeloid leukemia, which show variable cytomorphological features. We constructed rodent-human somatic cell hybrids containing the der(16) chromosome from leukemic cells of a patient with t(16;21). Using these hybrids, we mapped the translocation breakpoint on the Not I restriction map of chromosome 21 which we had previously constructed. The result showed the proximity of the breakpoint to the ERG gene, a member of the ets oncogene superfamily. Polymerase chain reaction and Southern blot analyses of genomic DNA from the hybrids and from peripheral blood cells and bone marrow cells of patients with t(16;21) showed that the breakpoints were clustered within a single intron in the coding region of the ERG gene. This finding and the results obtained by Northern blot analysis suggested the formation of a chimeric product(s) by fusion of the ERG gene and an unknown counterpart gene on chromosome 16
5
TI: Establishment of a new human pre-B acute lymphoblastic leukemia cell line (KMO-90) with 1;19 translocation carrying p53 gene alterations.
AU: Sotomatsu-M; Hayashi-Y; Kawamura-M; Yugami-S; Shitara-T
SO: Leukemia. 1993 Oct; 7(10): 1615-20
AB: A new human pre-B acute lymphoblastic leukemia cell line (KMO-90) was established from the bone marrow sample of a 12-year-old girl with acute lymphoblastic leukemia (ALL) carrying 1;19 chromosome translocation. KMO-90 cells expressed HLA-DR, CD10, CD19, and CD22 antigens. These cells had also cytoplasmic immunoglobulin lacking surface immunoglobulin, indicating that these had a pre-B phenotype. Chromosome analysis of this cell line showed 48, XX, +8, +19, t(1;19)(q23;p13). Southern blot analysis showed the same sized rearrangements of the E2A gene in KMO-90 cells as those in the original leukemic cells. By means of reverse transcriptase-polymerase chain reaction analysis, we detected E2A/PBX1 fusion transcripts in KMO-90 cells. KMO-90 is useful when studying the role of the 1;19 translocation in the etiology of pre-B ALL. Furthermore, we studied alterations of the p53 gene in this cell line by polymerase chain reaction, single-strand conformation polymorphism analysis. KMO-90 cells were identified to have a point mutation at codon 177 (CCC-->TCC) of the p53 gene, suggesting that alterations of the p53 gene may have an important role in the establishment of this cell line.
6
TI: Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma.
AU: Kikuchi-A; Hayashi-Y; Kobayashi-S; Hanada-R; Moriwaki-K; Yamamoto-K; Fujimoto-J; Kaneko-Y; Yamamori-S
SO: Leukemia. 1993 Jul; 7(7): 933-8
AB: The TAL1 gene is altered as a consequence of t(1;14)(p32;q11) found in T-cell acute lymphoblastic leukemia (ALL) and shows site specific recombination (tald rearrangement). We investigated TAL1 gene alterations in 39 children with T-cell ALL, in 32 with B-precursor ALL, in three with ALL with myeloid-associated antigen, and in 18 with T-non-Hodgkin's lymphoma (T-NHL). tald rearrangement was found in nine of 39 T-cell ALL patients using Southern blot analysis with a TAL1 gene probe. Polymerase chain reaction (PCR) products predicted from the sequences of the corresponding tald alleles were shown in all of these patients. In contrast, no rearranged band was observed in other kinds of leukemia or in T-NHL patients. All of these patients with tald rearrangement had CD1- CD2+ CD4- CD7+ CD10- pheno-type. Of these, seven were classified as stage I thymic differentiation, and eight have survived for three to 59 months remission. Four of seven patients investigated had normal karyotypes, which has been reported to be associated with a good prognosis in T-cell ALL. We conclude that tald rearrangement is restricted to T-cell ALL, for which it provides a useful clonal marker. Such patients with this rearrangement may constitute a subgroup of T-cell ALL with a good prognosis.
7
TI: Molecular diversification of dominant subclones in vivo and in vitro in Ph-positive ALL.
AU: Miyashita-T; Nakamura-K; Asada-M; Kawaguchi-H; Nakazawa-S; Saito-M; Hayashi-Y; Takihara-Y; Kurosawa-S; Mizutani-S
SO: Leukemia. 1993 Apr; 7(4): 586-92
AB: A leukemia line KOPN30bi was established from a patient with acute lymphocytic leukemia (ALL) and Philadelphia (Ph) chromosome. The clonal rearrangement of the immunoglobulin heavy chain (IgH) gene and the expression of the P190 type BCR/ABL chimeric transcript were shown to be identical between KOPN30bi and the predominant clone (S1) in the blast cell population from which KOPN30bi was established, indicating that they are of the same clonal origin. Studies of the T-cell antigen receptor (TCR) gene configuration including the TCR beta, gamma, and delta loci showed that none of them was identical between KOPN30bi and S1. The TCR delta region was rearranged on both of the alleles in KOPN30bi and was deleted on both alleles in S1 indicating that KOPN30bi was not derived from S1. Polymerase chain reaction analysis, using an oligonucleotide probe corresponding to the N region sequence of the V gamma-J gamma juncture of KOPN30bi, indicated that only 0.1% of the blast cells corresponded to KOPN30bi. Thus molecular diversification of dominant subclones in vivo and in vitro was shown in Ph-positive ALL.
　
　　　　　　　　　　　　　　　　　　　　　　　　　

Edited by Toshio Hishi