Multiple exostosis (osteochondroma) and Wilms' tumour--a possible association by Walker et al., 1991.
Explore the source record for details and available documents.
Female↗
Biomedical subjects
J Pritchard
Publications and source records attributed to J Pritchard.
Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour.
Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.
Beckwith-Wiedemann Syndrome↗
Pilot study of high-dose vincristine, etoposide, carboplatin and melphalan with autologous bone marrow rescue in advanced neuroblastoma.
The efficacy and toxicity of a high-dose multiagent consolidation regimen, OMEC (vincristine, melphalan, etoposide and carboplatin), with autologous bone marrow rescue was studied in patients with poor-prognosis neuroblastoma, 20 patients were treated with OMEC, 18 after induction chemotherapy and 2 following relapse. All patients received, per m2, vincristine 4 mg, etoposide 1 g, carboplatin 1.0-1.75 g and melphalan 180 mg followed by bone marrow rescue. 4 patients (20%) died of treatment-related complications. Severe gastrointestinal toxicity occurred in all of these patients, and in 75% of patients overall. 1 of 5 patients with evaluable disease achieved complete remission. 13 patients (65%) have relapsed a median of 10 months (range 3-26) after receiving OMEC. Thus, OMEC was not more effective, yet more toxic, than high-dose melphalan given alone, and the use of similar multiagent regimens with overlapping toxicities in advanced neuroblastoma appears inadvisable.
Antineoplastic Combined Chemotherapy Protocols↗
Renal size and function after cure of Wilms' tumour.
Now that most patients with Wilms' tumour are cured, it is practicable to study the long-term morbidity of their treatment and use this information to reduce treatment sequelae in the future. In this study we evaluate the size and function of the remaining kidney in 53 survivors of Wilms' tumour with a mean off treatment follow-up of 13 years. There was evidence of renal dysfunction in 17 (32%), including ten (19%) with a low GFR (< 80 ml/min/1.73 m2SA), six (11%) with hypertension and five (9%) with increased urinary albumin excretion. Measurements of renal size showed 'good' renal compensatory hypertrophy in only 55% of patients. 'Good' refers to renal size of more than 2 s.d. above the mean renal length for children with two kidneys. There were no correlations between GFR, renal size, blood pressure, microalbuminuria or type of treatment. However, children less than 24 months at diagnosis and children receiving chemotherapy with radiation doses to remaining kidney of more than 1200 cGy had a worse renal prognosis. Patients whose Wilms' tumour is diagnosed in infancy should have careful long-term follow-up of renal function and size. Older patients may safely be followed up less often, unless their remaining kidney was received > 1200 cGy.
Blood Pressure↗
Effect of inhibition of abscisic Acid accumulation on the spatial distribution of elongation in the primary root and mesocotyl of maize at low water potentials.
Previous work showed that accumulation of endogenous abscisic acid (ABA) acts both to maintain primary root growth and inhibit shoot growth in maize seedlings at low water potentials (psi(w)) (IN Saab, RE Sharp, J Pritchard, GS Voetberg [1990] Plant Physiol 93: 1329-1336). In this study, we have characterized the growth responses of the primary root and mesocotyl of maize (Zea mays L. cv FR27 x FRMo 17) to manipulation of ABA levels at low psi(w) with a high degree of spatial resolution to provide the basis for studies of the mechanism(s) of ABA action. In seedlings growing at low psi(w) and treated with fluridone to inhibit carotenoid (and ABA) biosynthesis, ABA levels were decreased in all locations of the root and mesocotyl growing zones compared with untreated seedlings growing at the same psi(w). In the root, low psi(w) (-1.6 megapascals) caused a shortening of the growing zone, as reported previously. The fluridone treatment was associated with severe inhibition of root elongation rate, which resulted from further shortening of the growing zone. In the mesocotyl, low psi(w) (-0.3 megapascal) also resulted in a shortened growing zone. In contrast with the primary root, however, fluridone treatment prevented most of the inhibition of elongation and the shortening of the growing zone. Final cell length measurements indicated that the responses of both root and mesocotyl elongation to ABA manipulation at low psi(w) involve large effects on cell expansion. Measurements of the relative changes in root and shoot water contents and dry weights after transplanting to a psi(w) of -0.3 megapascal showed that the maintenance of shoot elongation in fluridone-treated seedlings was not attributable to increased water or seed-reserve availability resulting from inhibition of root growth. The results suggest a developmental gradient in tissue responsiveness to endogenous ABA in both the root and mesocotyl growing zones. In the root, the capacity for ABA to protect cell expansion at low psi(w) appears to decrease with increasing distance from the apex. In the mesocotyl, in contrast, the accumulation of ABA at low psi(w) appears to become increasingly inhibitory to expansion as cells are displaced away from the meristematic region.
Journal Article↗
Defective alloantigen-presenting capacity of 'Langerhans cell histiocytosis cells'.
The functional activity of skin cells derived from an infant who died of multisystem Langerhans cell histiocytosis (LCH) was examined. Involved and non-involved skin was obtained at postmortem examination within three hours of death; normal epidermal Langerhans cells and 'LCH cells' were separated by means of dispase digestion. The functional activity of different populations of CD1a positive cells was assessed using the conventional six day allogeneic mixed cell reaction. Compared with Langerhans cells from a healthy control, LCH cells showed minimal functional activity. However, Langerhans cells from non-involved skin showed normal and Langerhans cells overlying involved skin showed augmented functional activity. These findings suggest that LCH is a disease in which abnormal Langerhans cells accumulate and/or proliferate in various tissues but it does not affect the entire Langerhans cell population.
Antigens, CD↗
Cisplatin therapy in infants: short and long-term morbidity.
UNLABELLED: The tolerance to and toxicity of cisplatin treatment was retrospectively studied in 30 infants. A total of 191 courses were given with a median of six per child and a median cumulative dose of 400 mg m-2. Electrolyte disturbances were noted in 15/23 infants (38:144 courses): hypomagnesaemia, which was dose related, in 10/23 (25/144 courses), hyponatraemia in 6/23 (7:144 courses), hypercalcaemia in 4/23 (6/144 courses), and hypocalcaemia in 3/23 (4/144 courses). Seizures occurred in two infants. Vomiting followed 31/191 courses and neutropenic febrile episodes 23/191 courses. Median survival is 6 years 1 month. Six children have died of progressive malignancy. Glomerular filtration rate was less than 80 ml min-1 per 1.73 m2 in 15/29 children, at or within a month of the end of treatment; of ten retested at follow-up, eight had increased to more than 80 ml min-1 per 1.73 m2 (P = 0.027). High-frequency hearing loss was observed in 10/28 children, but was only significant in five (four grade 2 and one grade 3). IN CONCLUSION: the long-term toxicity of cisplatin in infants, at this dose range and schedule, is no more severe than in older children.
Antineoplastic Combined Chemotherapy Protocols↗
Knee dislocations with intact PCL.
Complete knee dislocations are infrequent but serious injuries resulting from a wide spectrum of traumatic events. Significant soft tissue and ligamentous damage usually result. Previous experience and several reports in the literature had led us to believe that complete dislocations were associated with both ACL and PCL rupture. Three cases of documented complete knee dislocation in which the PCL is preserved intact are presented.
Adolescent↗
Lung involvement in Langerhans' cell histiocytosis: prevalence, clinical features, and outcome.
In Langerhans' cell histiocytosis, the prognostic significance of pulmonary disease is controversial. The clinical and radiological features and lung function tests of Langerhans' cell histiocytosis patients presenting to a single tertiary referral center between 1981 and 1987 were reviewed. Age at diagnosis ranged from 2 weeks to 16 years (median 1.7 years) and the male-female ratio was 2.4:1. No child presented with lung involvement alone. In 18 (40%) of 45 patients with multisystem disease there was clinical and/or radiological evidence of lung pathology. Another 6 children (13%) with normal chest roentgenograms had abnormal lung function tests, suggesting subclinical ("occult") involvement. Those with overt lung disease tended to present at a younger than average age (median 0.6 years). The most common functional disturbance was reduced lung or respiratory compliance with reduced lung volumes. Patients with and without lung involvement showed a similar pattern of involvement of other organs, with skin and bone most commonly affected. Of the 45 children with multisystem disease, 38 (84%) survived 2 to 7 years after diagnosis; there was a similar proportion of deaths in children with and without lung involvement. It is concluded that lung involvement occurs in nearly half of young children with multisystem Langerhans' cell histiocytosis but does not adversely affect outcome.
Adolescent↗
Congenital malignant melanoma of the eye.
Twenty-three cases of congenital malignant melanoma have previously been reported. Here the authors report the first case of a congenital malignant melanoma arising in the eye. A newborn girl had a large pigmented ocular tumor, hepatomegaly, and multiple pigmented skin and choroidal lesions. The histopathologic diagnosis was of a malignant melanoma with hepatic metastases. The skin and choroidal lesions were considered to be congenital melanocytic nevi. The most plausible pathogenetic link between these two conditions was that the malignancy had arisen as a second-hit mutation within a choroidal congenital melanocytic nevus. Despite widespread metastases the baby, treated by surgery and chemotherapy, survives in good health, aged 2 years, 10 months.
Eye Neoplasms↗
Response rates in relapsed Wilms' tumor. A need for new effective agents.
Three hundred eighty-one children with Wilms' tumor were treated in the United Kingdom Children's Cancer Study Group WT1 Study (1982 to 1986). Seventy-one patients had relapses during or after treatment with surgery and chemotherapy, and radiation therapy, depending on stage and histologic characteristics. Forty-nine patients were evaluable for disease response to second-line chemotherapy alone. Evaluation of response to chemotherapy was impossible in the remaining patients because either surgery or radiation therapy was used at the time of relapse. With second-line combination chemotherapy (which included ifosfamide, etoposide/VM26, cisplatin/carboplatin, bleomycin, melphalan, and Thiotepa [Lederle Laboratories, Pearl River, NY]), there were five complete responses and 12 partial responses. In patients with favorable histologic findings, six of nine with Stage I, five of ten with Stage II, none of 11 with Stage III, three of 16 with Stage IV, and one of five with Stage V disease survived. Two survivors were treated with chemotherapy alone; the others received combined treatment with chemotherapy, radiation therapy, and/or surgery. For those with unfavorable histologic findings of any stage, only two of 20 survived. The authors conclude that, even for patients with localized disease with favorable histologic findings, the "salvage" rate is little more than 50%, and for all other stages and histologic findings the likelihood of cure after relapse is remote. There is clearly a need for additional effective chemotherapeutic agents for these patients.
Antineoplastic Combined Chemotherapy Protocols↗
Staging designation for bilateral Wilms' tumours.
Explore the source record for details and available documents.
Humans↗
Role of radiotherapy in hepatoblastoma and hepatocellular carcinoma in children and adolescents: results of a survey conducted by the SIOP Liver Tumour Study Group.
Explore the source record for details and available documents.
Adolescent↗
Cisplatin ototoxicity in children: a practical grading system.
A long-term follow-up study was carried out to assess ototoxicity in children who had been treated for a malignant tumour with "standard dose" cisplatin (60-100 mg/m2 per course), and were at least 2 years from stopping treatment. The median age at diagnosis was 2 years 2 months (range 1 month to 13.5 years). On the basis of hearing assessment by pure-tone audiometry, a practical grading system of hearing loss from 0 to 4 is proposed. Moderate to severe high-frequency hearing loss (grade 2-4) was found in half the children and 10 require appropriate hearing aids. The risk of developing ototoxicity increased significantly with the cumulative cisplatin dose (P = 0.027), although there was considerable individual susceptibility. Serial follow-up testing, to a median of 4 years after completion of cisplatin treatment, showed no recovery of hearing in any of these children. We suggest careful monitoring of young children by a consultant audiological physician throughout treatment with cisplatin, particularly when doses of 400 mg/m2 and over have been reached. Alternative chemotherapy should be discussed if grade 2 ototoxicity develops.
Adolescent↗
Familial neural crest tumours.
It is known that some cases of neural crest tumours are hereditary. We report the clinical and cytogenetic findings in a three-generation, extended family, four members of which developed single or multiple neural crest tumours (ganglioneuroma, ganglioneuroblastoma or neuroblastoma). To our knowledge, this is the first report of a family with three generations affected. No constitutional cytogenetic abnormality was found in the two members tested. We also review the literature on familial neural crest tumours, with emphasis on those affecting more than one generation. It is important that a detailed family history, with particular reference to tumours, is obtained in all cases of childhood cancer.
Adolescent↗
Risks and benefits of percutaneous biopsy and primary chemotherapy in advanced Wilms' tumour.
Between 1982 and 1988, 36 children with advanced Wilms' tumour underwent percutaneous trucut needle biopsy followed by chemotherapy before definitive surgery. Nephrectomy was performed after a median of 14 weeks of chemotherapy. Substantial reduction in tumour bulk was achieved in 94% of patients. Biopsy morbidity was low and complete concordance between the histological assessment of the tumour in the biopsy specimen and at subsequent nephrectomy was confirmed in 26 of 28 (93%) patients. The overall clinical value of trucut biopsy was 83% (30/36 patients). Survival rates in this high-risk group were comparable to those of children with less advanced disease. Chemotherapy may be the primary treatment of choice for patients with Wilms' tumour. Percutaneous biopsy allows definition of histology in most patients without increasing morbidity.
Adolescent↗
Cytogenetic analysis of primitive neuroectodermal tumors. Absence of the t(11;22) in two of three cases and a review of the literature.
Cytogenetic analyses on direct and short-term cultures from three peripheral primitive neuroectodermal tumors (PNET) showed only one tumor with the t(11;22)(q24;q12), a translocation reported as characteristic of this tumor type. A second tumor contained rearrangements including apparent deletions of chromosomes 11 and 22 between bands 11q21 and 11qter and between bands 22q11.2 and 22qter, respectively. A third tumor contained two normal copies of 11q but appeared to be monosomic for 22. We consider these findings in light of a survey of the PNET literature.
Adolescent↗
Wilms' tumour: pre- and post-chemotherapy CT appearances.
Pre-operative chemotherapy is used in our institution for patients with Wilms' Tumours (WT) when surgical 'operability' is in doubt. To date, the computed tomographic (CT) appearances of chemotherapy-induced changes in WT have not been described. We have analysed CT examinations of 18 children undergoing pre-operative chemotherapy to assess the effects of treatment on size, extent and qualitative changes of the tumour. Clinical response to chemotherapy was associated with a reduction in tumour size of at least 50%. Cystic changes were commonly seen within tumours following chemotherapy. CT did not reliably differentiate lymph nodes involved by tumour from those showing only reactive change. Pre-chemotherapy CT scans were incorrect in predicting liver invasion in 4/18 (22%) cases: of these, two were right-sided tumours, and two were bilateral.
Child↗