PubMed Health⌕ Search

Biomedical subjects

C Fonatsch

Publications and source records attributed to C Fonatsch.

185 records · Page 11Linked to original sources
PubMed1975

De novo (11;13) translocation.

A male infant is described with unusual facial appearance, clubfeet, and moderate hydrocephalus internus without obvious deficiency in mental and physical development. Cytogenetic studies revealed a karyotype of 45,XY,--C,--D,+t(C;D). A chromosome 11 and a 13 are involved in the formation of the translocation chromosome. The long arm of chromosome 13 is linearly attached to the end of the long arm of chromosome 11 (tandem translocation). Chromosome material of the distal part of the long arm of chromosome 11, as well as the short arm plus the centromere of chromosome 13 seem to have been lost.

Child, Preschool↗
PubMedDate not supplied

Hodgkin's cell lines: characteristics and possible pathogenetic implications.

In the last four years we established five long term cultures from tumor material of Hodgkin's disease. The in vitro cells have malignant characteristics and represent the in vivo H- and SR-cells. Common immunological, functional and morphological assays did not characterize the in vitro cells to be a known cell type of lymphoid, myeloid or monocytoid tissue. The in vitro Hodgkin cells are biologically active by producing factors involved in regulation and promotion of immunological response and granulopoiesis. The relevance of the findings for pathogenesis and clinical appearance of Hodgkin's disease is discussed.

Cell Line↗
PubMedDate not supplied

Prospective monitoring of minimal residual disease in acute myeloid leukemia with inversion(16) by CBFbeta/MYH11 RT-PCR: implications for a monitoring schedule and for treatment decisions.

Minimal residual disease in patients with acute myeloid leukemia (AML) with inversion(16) can be monitored by CBFbeta/MYH11 RT-PCR. While the association between molecular remission (MR) in bone marrow (BM) and peripheral blood (PB) and long-term clinical remission (CR) seems to be established, there are insufficient data on the kinetics of CBFbeta/MYH11. We have performed a prospective study in order to generate a reasonable and sufficient schedule for PCR-monitoring. 11 patients with AML and inversion (16) in complete hematological remission have been prospectively monitored by CBFbeta/MYH11 RT-PCR in their BM and PB during an observation period of 7 to 67 months (median 32 months). Patients were followed during consolidation chemotherapy with repetitive cycles of high-dose Ara-C and after autologous or allogeneic stem cell transplantation in 2nd CR or refractory AML. MR never coincided with achievement of CR but occurred between 2 and 8 months after hematological remission. All patients in continuous CR were PCR-negative after 1-8 (median 4) months. Two patients relapsed despite MR for 10 to 15 months. Molecular relapse preceded hematological relapse by 3 to 5 months. Three out of four patients who were not in MR after 8 months relapsed. Allogeneic stem cell transplantation was able to eradicate minimal residual disease in 4/4 patients. In 2 patients a temporary reconversion to PCR-positivity was reversed by reduction of immunosuppression. 1 patient did not become PCR-negative until compete withdrawal of immunosuppression. We suggest that BM and PB should be examined after the last consolidation treatment. In case of MR, PB should be examined every 1 to 2 months and BM examination should be done only in case of PCR-positivity in PB in order to confirm the molecular relapse and to identify an impending cytogenetic and/or hematological relapse. CBFbeta/MYH11 RT-PCR monitoring is able to predict relapse 3 to 5 months prior to overt hematological relapse, offers a window of opportunity for preemptive therapy of molecular relapse and confers implications for immunotherapy in the setting of allografting.

Acute Disease↗
PubMedDate not supplied

Rearrangements of immunoglobulin- and BCR-genes in chronic myeloid leukemia.

Clonal rearrangements of immunoglobulin (Ig) and T cell receptor (TCR) genes have been demonstrated in malignant lymphoid tumors of B and T cell origin. In Philadelphia chromosome (Ph1) positive chronic myeloid leukemia (CML) the bcr and c-abl genes are reorganized and a new transcript, composed of both genes is expressed. Immunoglobulin gene rearrangements were also detected in lymphoid blast crisis but not in myeloid blast crisis of CML. We analyzed in Southern blot experiments whether Ig and TCR rearrangements could also occur in the chronic or accelerated phase of the disease. Our results indicate that immunoglobulin but not TCR delta or TCR gamma gene rearrangements also occurred in some patients with CML in chronic and accelerated phase but not in myeloid blast crisis, together with rearrangements of the bcr gene.

Adult↗