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Daniel W. Fort Vijay S. Tonk Gail E. Tomlinson Charles F. Timmons Nancy R. Schneider 《Genes, chromosomes & cancer》1994,11(3):146-152
Rhabdoid tumor of the kidney (RTK) is associated with tumors of the central nevous system (CNS) in approximately 15% of cases. We describe the clinical features, histologic and cytogenetic findings, and molecular analysis of renal and CNS tumors from the same patient. The histology of the renal tumor was consistent with rhabdoid tumor. The CNS tumor was a primitive neuroectodermal tumor (PNET). The karyotype of the RTK was normal male. The PNET of the brain demonstrated monosomy 22 as the only cytogenetic abnormality, similar to reported cases of malignant rhabdoid tumor of the brain, but dissimilar to nonrandom cytogenetic findings in other CNS PNETs. Molecular cytogenetic and DNA marker studies confirmed loss of chromosome 22 in this patient's brain tumor. DNA allelotyping showed retention of both parental chromosome 22 alleles in the RTK and loss of the maternal allele in the PNET. Evaluation of additional RTKs and brain tumors occurring in the same patient may provide insight into the origins and relationships of these enigmatic tumors. 相似文献
4.
Vijay S. Tonk Kathleen S. Wilson Charles F. Timmons Nancy R. Schneider 《Genes, chromosomes & cancer》1994,11(3):199-202
Short-term cultures of three hepatoblastomas were analyzed cytogenetically. Trisomy 2, trisomy 20, and a deletion of 17p were found as the sole abnormalities, yielding the karyotypes 47,XY, + 2; 47,XX, + 20; and 46,XX,del(17)(p12)/46,XX. This is the first reported case of deletion of 17p as the sole chromosomal abnormality in a hepatoblastoma and the first reported case of trisomy 20 without double minute chromosomes as a sole chromosomal abnormality in hepatoblastoma. 相似文献
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Canfield MC; Tamarappoo BK; Moses AM; Verkman AS; Holtzman EJ 《Human molecular genetics》1997,6(11):1865-1871
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused
most often by mutations in the vasopressin V2 receptor (AVPR2). We studied
a family which included a female patient with NDI with symptoms dating from
infancy. The patient responded to large doses of desmopressin (dDAVP) which
decreased urine volume from 10 to 4 I/day. Neither the parents nor the
three sisters were polyuric. The patient was found to be a compound
heterozygote for two novel recessive point mutations in the aquaporin-2
(AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is
the site for inhibition of water permeation by mercurial compounds and is
located near to the NPA motif conserved in all aquaporins. Osmotic water
permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2
was not increased over water control, while expression of L22V cRNA
increased the Pf to approximately 60% of that for wild-type AQP2.
Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the
function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO
cells showed that the C181W mutant had an endoplasmic reticulum-like
intracellular distribution, whereas L22V and wild-type AQP2 showed endosome
and plasma membrane staining. Water permeability assays showed a high Pf in
cells expressing wild-type and L22V AQP2. This study indicates that AQP2
mutations can confer partially responsive NDI.
相似文献
7.
OBJECTIVES: To determine the prevalence of portrayal of the foramen transversarium of the second cervical vertebra on rotational panoramic radiographs. METHODS: A stratified random sample of 1600 diagnostic-quality rotational panoramic radiographs were retrospectively reviewed. Approximately 100 radiographs each for males and females were reviewed for each of the decades of life up to age 69 and for subjects 70 or older. RESULTS: The foramen was portrayed 29.3% of all radiographs, 35% of females and 22.6% of males. However, when considering only those radiographs in which cervical vertebrae were visible, the foramen was more frequently portrayed in males than in females. Portrayal of the foramen did not differ substantially among age groups. CONCLUSIONS: The foramen transversarium is found sufficiently often on rotational panoramic radiographs that this structure should be identifiable by clinicians who use these images. 相似文献
8.
Beverly Barton Rogers John Sommerauer Albert Quan Charles F. Timmons D. Brian Dawson Richard H. Scheuermann Karen Krisher Carolyn Atkins 《Pediatric and developmental pathology》1998,1(6):480-486
To assess whether the semiquantitative peripheral blood Epstein-Barr virus (EBV) polymerase chain reaction (PCR) test correlates
with post-transplant lymphoproliferative disorder (LPD), we compiled the results of the test done over a 3-year period ending
July 1997. Six hundred seventy-six tests were done on 185 patients. Four hundred-thirty tests (63%) were negative, 167 (25%)
were weak positive, 67 (10%) were moderate positive, and 12 (2%) were strong positive. Twelve of the patients developed a
lymphoproliferative disorder (LPD) during this time. The EBV PCR tests proximate to the diagnosis of LPD in the 12 patients
with EBV-positive LPD were 6 strong positive, 5 moderate positive, 1 weak positive. No patient with LPD had a negative result
at diagnosis. Stated another way, 6/12 (50%) of strong-positive PCR tests, 5/67 (7%) moderate-positive tests, and 1/167 (.6%)
of weak-positive tests correlated with LPD. Serologic evaluation for EBV done on 7 patients at the time of LPD showed low
serologic responses in 5 of the 7 patients. The EBV PCR temporally associated with the serology indicated moderate to large
viral burdens. In each patient evaluated serially, the EBV PCR test rose before the diagnosis of LPD and fell with treatment
for the disorder. In conclusion, the EBV PCR test may be used as an adjunct to the diagnosis of patients with LPD and may
be used to monitor response to therapy for the disorder.
Received August 26, 1997; accepted January 13, 1998. 相似文献
9.
Filippo Spreafico Michele Murelli Brian W. Timmons Maura Massimino Ronald Barr 《Pediatric blood & cancer》2019,66(8)
The burden of morbidities affecting cardiovascular and musculoskeletal systems, metabolism, and psychosocial health in young patients with cancer is high. It is alarming that patients and survivors of childhood cancer are less physically active than their healthy peers, since exercise may improve many of these conditions significantly and is associated with reduction in all‐cause mortality in the general population. Systematic integration of exercise programing into cancer care remains an exception, above all in children. Pediatric oncologists may contribute to a culture shift towards educating patients and stakeholders on the benefit of exercise and sports for children and adolescents with cancer. 相似文献