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Biomedical subjects

Max J Coppes

Publications and source records attributed to Max J Coppes.

10 recordsLinked to original sources
PubMed2004

Management of Wilms' tumour: current practice and future goals.

Most patients with Wilms' tumour in Europe and North America can be cured with treatment and subsequently lead a normal adulthood. However, for some, therapy as applied today results in long-term side-effects and creates a substantial burden on quality of life. Therefore, investigators involved in the management of patients with Wilms' tumour are increasingly focusing their efforts on curtailing the long-term sequelae of therapy. This aim has been achieved by lowering the total amount of chemotherapy, radiotherapy, or both administered to patients who have characteristics associated with favourable outcome. Although excellent survival has been maintained, many patients receive less therapy today than patients with similar characteristics did a decade or two ago. Better understanding of the biological processes that lead to this childhood cancer will allow further improvements in its management.

Child↗
PubMed2003

A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp.

A 3-year, 9-month-old girl with trisomy 21 was diagnosed with acute lymphoblastic leukemia (ALL). The karyotype of her leukemic cells at diagnosis-48,XX,+i(X)(p10),+21c-included an extra, structurally abnormal X chromosome as the sole acquired abnormality. While an extra X chromosome is a common abnormality in childhood ALL, it is seldom the only acquired aberration. Furthermore, an additional X chromosome that is structurally abnormal is rare, and has not been reported previously as a solitary abnormality. Here we report a novel karyotype in childhood ALL and review the eight previously described cases of ALL with an extra X isochromosome as the only acquired abnormality.

Child, Preschool↗
PubMed2003

Myeloid leukemia in Prader-Willi syndrome.

OBJECTIVE: To evaluate the frequency of cancers recorded by the Surveillance, Epidemiology, and End Results (SEER) Program in persons with Prader-Willi syndrome (PWS) METHODS: A survey was mailed in 1994 to 1852 registrants of the PWS Association (USA) inquiring about a diagnosis of any type of benign tumor or cancer (malignant tumor or leukemia). The risk of developing cancer was then estimated by comparing the observed number of cancers in the PWS population during 1975 to 1994 to the expected number in the general US population using data from the 1971-1994 SEER Cancer Statistics Review. RESULTS: Of the 1852 persons, 1160 (63%) responded, or 75% (1160/1552) of those who received the survey. The total number of observed cancer cases in the PWS study population was 8 versus 4.80 expected in the general US population (P =.1610). Three cases of myeloid leukemia were observed versus 0.075 leukemias expected (P =.0001). CONCLUSIONS: There appears to be an increased risk of myeloid leukemias, but not other cancers, among persons with PWS.

Adolescent↗
PubMed2002

Evidence of a role for the INK4 family of cyclin-dependent kinase inhibitors in ovarian granulosa cell tumors.

Granulosa cell tumors (GCTs) of the ovary are relatively rare and account for <5% of all ovarian cancers. The molecular pathogenesis of these tumors is not well understood. We tested the hypothesis that cyclin-dependent kinase inhibitors, specifically the inhibitors of the cyclin-dependent kinase 4 (INK4) family, are targets for altered gene expression in GCTs. The status of RB1, INK4A, INK4B, INK4C, INK4D, and ARF in 13 adult and 2 juvenile ovarian GCTs was determined by reverse transcription-polymerase chain reaction of total RNA and exon-specific sequencing of genomic DNA. Tumors showing loss of INK4A expression were assayed further by exon-deletion analysis and methylation-specific PCR. None of the juvenile tumors demonstrated altered expression, but 7/12 (58%) adult GCTs lacked expression of INK4A, INK4B, or both. In one of these cases, we noted a homozygous deletion of the INK4A locus, and in the remaining tumors we found hypermethylation of the promoter region, a mechanism that can lead to gene inactivation. These data support a role for the INK4 family of CDK inhibitors in the biology of GCTs.

Adolescent↗
PubMed2002

Recent advances in Wilms tumor genetics.

The past decade has witnessed substantial growth in our knowledge of the genes and loci that are altered in Wilms tumor. Although Wilms tumor was one of the original paradigms of Knudson's two-hit model of cancer formation, it has become apparent that several genetic events contribute to Wilms tumorigenesis. Recent research has identified targets and regulators of the first Wilms tumor gene, WT1, has uncovered several candidate genes at the second Wilms tumor locus, WT2, and has identified two familial Wilms tumor loci, FWT1 and FWT2. The recent discovery of activating beta-catenin mutations in some Wilms tumors has also implicated the Wnt signaling pathway in this neoplasm. Recurrent abnormalities of other loci, including 16q, 1p, and 7p, have indicated that these sites may harbor Wilms tumor genes. An enhanced understanding of these and other genetic lesions will provide the foundation for novel targeted Wilms tumor therapies.

Beckwith-Wiedemann Syndrome↗
PubMed2002

Congenital extrarenal non-central nervous system malignant rhabdoid tumor.

Malignant rhabdoid tumor (MRT) is a rare tumor occurring mostly in kidneys and central nervous system (CNS). Its prognosis is not good. Occasionally, MRTs are diagnosed at or immediately after birth. A female neonate presented with MRT in the chest wall, axilla, right elbow, and bone marrow. Chest wall lesion was resected completely. Although the masses in axilla and bone marrow responded rapidly to chemotherapy, the elbow lesion increased in size. Despite intense treatment, the tumor relapsed in lungs and the patient died 12 months after diagnosis. Review of the literature showed twenty additional congenital MRTs arising from sites outside of the kidney and central nervous system were published in the literature. Eighteen patients had disseminated disease at diagnosis. The median overall survival time for all (n = 21) patients was 2.0 months (0-24 months). The only patient who survived had a localized tumor at initial diagnosis. Congenital, extrarenal, non-CNS MRTs are aggressive tumors with poor outcome.

Axilla↗