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Biomedical subjects

A Panani

Publications and source records attributed to A Panani.

At least 19 recordsLinked to original sources
PubMed2005

A novel p27 gene mutation in a case of unclassified myeloproliferative disorder.

P27 encodes a member of Cip/Kip family of cyclin dependent kinase inhibitors, the inactivation of which has been implicated in the pathogenesis of various hematological neoplasias. We report on a novel point mutation of this gene identified in a case of unclassified myeloproliferative syndrome consisting of a T --> C transversion at 821bp of p27 exon 1, resulting in a Ile --> Thr substitution at codon 119. The analysis of larger number of cases as well as the effect of this mutation on protein's function will help to clarify its significance in the pathogenesis of myeloproliferative syndromes.

Cell Cycle Proteins↗
PubMed2003

Absence of MLL gene rearrangement in de novo myelodysplastic syndromes (MDS).

The Mixed Lineage Leukemia (MLL) gene has been identified in 11q23 translocations. The aim of the present study is the investigation of the frequency of MLL gene rearrangements in cases of de novo myelodysplastic syndromes (MDS). Sixty-two patients with de novo MDS were included in the analysis. The detection of MLL gene rearrangements was performed by Southern blot. Clonal karyotypic abnormalities were found in 15/50 (30%) cases. 11q23 abnormalities were not detected. One case with RAEB and a complex karyotype presented a del (11)(q13); further analysis by FISH revealed loss of one copy of MLL gene in all metaphases. Southern blot revealed germline bands in all cases using Eco RI and in 61/62 cases with Bam HI. The case with RAEB and a del (11)(q13) revealed a rearranged band following only Bam HI digestion, but not Eco RI. Rearrangements of MLL gene within exons 5-9 were not identified in this series of adult de novo MDS, indicating that this molecular abnormality is not involved in the pathogenesis of this group of hemopoietic disorders.

Blotting, Southern↗
PubMed1986

Cytogenetic findings in a large bowel adenocarcinoma.

Cytogenetic analysis of a biopsy specimen taken during sigmoidoscopy from an adenocarcinoma of the large bowel revealed a hypodiploid karyotype with numerical and structural abnormalities identified as trisomy 7, t(3;12), t(1;17), interstitial deletion of the long arm of a chromosome #5 and loss of the Y chromosome with double X chromosomes. The possibility of this karyotype being a further evolutionary step in a subgroup of large bowel cancers and the clinical value of the above findings are discussed.

Adenocarcinoma↗
PubMed1985

Common marker chromosomes in ovarian cancer.

Cytogenetic analysis of six cases of ovarian adenocarcinoma revealed the presence of common marker chromosomes. The chromosomes involved in rearrangements, were #1 (four cases), #3 (six cases), #6 (two cases), and #17 (three cases). Our data support the presence of previously reported common aberrations of certain chromosomes in ovarian cancer. The presence in all six cases of a 3p- marker chromosome, previously reported as a specific abnormality in small cell lung cancer, indicates that it can also be found in other types of cancer.

Adenocarcinoma↗
PubMed1984

Cytogenetic study in multiple myeloma.

Ten patients with multiple myeloma (MM) were studied cytogenetically, using the G-banding technique. It was found that five patients had a normal karyotype, whereas five patients exhibited various chromosomal abnormalities. The presence of marker chromosomes was a consistent finding. Among those, the 14q+ marker chromosome was present in three cases, partial or complete trisomy for 1q was detected in four cases, and chromosome #6 was involved in two cases. In one case the 14q+ marker chromosome was determined to result from a translocation between chromosomes #11 and #14. In one patient with Bence Jones kappa multiple myeloma, there was a translocation between chromosomes #2 and #8.

Aged↗
PubMed1984

Partial duplication of 1q in a malignant lymphoma.

A case of malignant lymphoma with a partial duplication of the long arm of chromosome #1, as well as 14q+ and 11q+ marker chromosomes, is presented. The coincidence of this duplicated segment of chromosome #1 with others described in the literature supports the idea that this specific chromosome segment may be related to the malignant process.

Bone Marrow↗
PubMed1984

G-banded karyotype of a primary renal-cell carcinoma.

Cytogenetic findings of a primary renal-cell carcinoma are reported. The chromosome number was near triploid and there was tetrasomy for the long arm of chromosomes #1 and #3. The following structural chromosomal abnormalities were identified by the G-banding technique: i(1q), t(3;17), 6q-, 7p+, and a ring chromosome of unknown origin. Chromosomes #1, #3, #6, #7, and #17 involved in this case are often implicated in malignancy.

Adenocarcinoma↗
PubMed1983

Correlation of haematological, electron microscopic and cytogenetic findings in 20 patients with preleukaemia.

A combined haematological, ultrastructural and chromosomal study was made in 20 patients with preleukaemia. There was evidence of specific correlations between (a) Hb F levels and pancytopenia or profound anaemia, (b) chromosomal and electron microscopic findings and (c) thrombocytosis and ringed sideroblasts. The above findings might be of importance in identifying subgroups of preleukaemic patients with different prognosis.

Aged↗
PubMed1980

Chromosome aberrations and prognosis in preleukaemia.

24 patients with preleukaemia were cytogenetically studied by the G-banding staining technique. All patients developed later frank acute non-lymphocytic leukaemia and died. 13 patients had a completely normal karyotype (NN-patients) with a median survival time of 8 months. 6 patients had both normal and abnormal metaphases (AN-patients) with a median survival time of 18.5 months, while 5 patients had abnormal metaphases only (AA-patients) with a median survival time of 3 months.

Aged↗
PubMed1977

Cytogenetic studies in preleukaemia using the G-banding staining technique.

15 patients with preleukaemia were cytogenetically studied during the preleukaemic state by using the G-banding staining technique. It was found that 9 patients had a completely normal karyotype, while the other 6 showed various chromosomal abnormalities, numerical (trisomies in 5 cases) and structural (deletion in 1 case and a marker chromosome in 1 case). The abnormalities concerned group C in all 6 cases, while group A was involved in 3 cases. G-banding technique revealed that trisomy C affected the chromosomes nos 8 (2 cases) and 9 (3 cases); also a deleted chromosome 11 (11q-) was identified in 1 case and a marker chromosome in 1, the origin of which was established as a translocation between chromosomes 3 and 6. The abnormalities of group A concerned chromosome no 3. The abnormalities found in our cases, using the G-banding technique, were similar to those described in acute leukaemia.

Aged↗
PubMed1976

Extremely long duration of chronic myeloid leukaemia with Ph1 negative and Ph1 positive bone marrow cells.

A male patient still surviving 17 years after the diagnosis of chronic myeloid leukaemic (CML) is described. A chromosome analysis of the bone marrow 16 years after the diagnosis revealed 84% Ph1 negative and 16% Ph1 positive cells, all containing the Y chromosome. The disease has been very sensitive to treatment with busulphan but bone marrow hypoplasia has not been induced. It is probable that in some CML patients with such a double cell population the prognosis may be extraordinarily good and that they run a considerable risk of being overtreated due to a pronounced sensitivity to alkylating drugs. Such rare cases should not serve as arguments for aggressive treatment of CML.

Aged↗
PubMed1975

Cytogenetic differences between bone marrow and spleen in a case of agnogenic myeloid metaplasia developing blast crisis.

Chromosome studies of cells from bone marrow and spleen were performed in a patient with agnogenic myeloid metaplasia (MM) developing blast crisis after a chronic phase lasting for 6.5 years. The proportions of blast cells were roughly the same in bone marrow and spleen. In the bone marrow 43 % of the metaphases were abnormal with a marker chromosome whereas all spleen metaphases were normal. The results indicate that chromosomal changes associated with blast transformation in MM may occur in the bone marrow prior to such changes in the spleen and support the concept that bone marrow and spleen may constitute relatively separate pools of haemopoietic tissue in chronic myeloproliferative diseases.

Bone Marrow↗
PubMed1975

Isochromosome 17 in a case of eosinophilic leukaemia. An abnormality common to eosinophilic and neutrophilic cells.

In a patient with eosinophilic leukaemia, serial chromosome studies using the Giemsa banding technique revealed a similar marker chromosome, identified as an isochromosome 17, in all bone marrow metaphases analysed. There was no Ph-1-chromosome. The cytogenetic data support the view that eosinophilic leukaemia is a specific disease entity, and suggest that both eosinophilic and neutrophilic cells are involved in the leukaemic process.

Bone Marrow Cells↗