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Biomedical subjects

D E Schofield

Publications and source records attributed to D E Schofield.

At least 19 recordsLinked to original sources
PubMed2000

Pulmonary infiltrates with eosinophilia syndromes in children.

Pulmonary infiltrates with eosinophilia (PIE) are a group of heterogeneous disorders having the common findings of lung disease and eosinophilia in the peripheral blood, bronchoalveolar lavage fluid, or pulmonary interstitium. Eleven cases of PIE syndromes were identified through a retrospective and prospective chart review: drug-induced (2), acute eosinophilic pneumonia (3), infant pulmonary eosinophilia (2), parasite-induced (2), Churg-Strauss syndrome (1), and atypical chronic PIE (1). Patient demographics, clinical presentation, and disease severity varied considerably among groups. Therapeutic interventions included bronchodilators (10), oxygen (7), corticosteroids (9), and mechanical ventilation (3). A single patient with acute eosinophilic pneumonia died. Our experience suggests that PIE syndromes are rare in childhood and that clinical presentation can vary widely. Because of the potential for significant morbidity and mortality, aggressive diagnostic evaluations are warranted, particularly in children with respiratory failure of unknown etiology.

Adolescent↗
PubMed1997

Renovascular hypertension in Marfan syndrome.

A defect in fibrillin integrity predisposes patients with Marfan syndrome to vascular wall abnormalities, most notably aortic rupture and dissection. Renal vascular anomalies have not been described previously in children with Marfan syndrome. In this report, we detail data from a hypertensive 14-year-old girl with clinical stigmata of Marfan syndrome and a diagnostic evaluation significant for characteristic aortic root dilatation and aneurysm, as well as a disparity in renal size and function exacerbated by captopril administration. Renal arteriography confirmed a left main renal artery stenosis that was not amendable to balloon angioplasty. Surgical resection resulted in significant improvement in hypertension. Pathological examination of the resected renal artery segment revealed intimal proliferation, fragmentation of the elastic media, and inner medial dissection. This patient demonstrates that, in addition to the aorta, renal arteries can be affected with the characteristic vascular wall pathology of Marfan syndrome, resulting in systemic hypertension. These data suggest that children with Marfan syndrome and hypertension need to be evaluated carefully for the presence of renal anomalies.

Adolescent↗
PubMed1996

Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors.

Rhabdoid tumors of the kidney are highly malignant neoplasms that occur primarily within the first 3 years of life. Although they are regarded as distinct from Wilms' tumors, their pathogenesis remains unclear. Whereas most cytogenetic studies of these tumors have revealed normal karyotypes, a few reports have indicated abnormalities at chromosome regions 22q and 11p15.5. We analyzed 30 primary renal rhabdoid tumors for loss of heterozygosity (LOH) at both regions and found that 24 of 30 tumors (80%) had LOH at chromosome arm 22q and that 5 of 30 (17%) had LOH at chromosome band 11p15.5. All of the five tumors with LOH at chromosome arm 11p also had LOH at chromosome arm 22q. The data suggest that there is a gene in chromosome 22, probably a tumor suppressor, inactivation of which may be involved in the genesis of renal rhabdoid tumors. A second gene in chromosome segment 11p15.5, in the region of the putative WT2 gene, may also be involved, in at least a subset of rhabdoid tumors. In addition, five tumors were characterized by microsatellite instability at three or more of 21 loci examined, suggesting a possible role for a replicative error in tumorigenesis or progression in some cases of renal rhabdoid tumors. Genes Chromosom Cancer 15:10-17 (1996).

Chromosome Deletion↗
PubMed1996

Giant cell ependymoma of the filum terminale. A report of two cases.

We describe two histologically unusual cases of ependymoma of the filum terminale. Both tumors occurred in 14-year-old boys. An intradural encapsulated mass attached to the filum terminale was demonstrated radiologically in both cases and totally resected at surgery. In case 1 the neoplasm was uniformly composed of pleomorphic giant cells and was without perivascular pseudorosettes or myxopapillary changes. Case 2 was a myxopapillary ependymoma with multiple foci of pleomorphic giant cells. Neither tumor had prominent mitotic activity, necrosis, or endothelial proliferation. Both tumors were immunopositive for cytokeratin and glial fibrillary acidic protein. Ultrastructural features included basal laminae, interdigitating cell processes, microvilli, cilia, intercellular junctions, and cytoplasmic intermediate filaments. Cytogenetic analysis in case 1 showed a hypodiploid karyotype with monosomy of chromosomes 1, 10, 14, 16, 20, and 22. We interpret both tumors as most consistent with a variant of ependymoma. Because of the unique gigantocellular light microscopic appearance of the entire tumor in case 1, we propose classifying this tumor as a new morphologic subtype: giant cell ependymoma of the filum terminale. The combination of gigantocellular and myxopapillary features in case 2 supports a histogenetic relationship between giant cell ependymoma and myxopapillary ependymoma.

Adolescent↗
PubMed1995

Nonrandom chromosomal gains in pilocytic astrocytomas of childhood.

Low-grade astrocytomas are the most common central nervous system (CNS) tumor occurring in the pediatric age group. Although many of these tumors are karyotypically normal, various studies have reported gains of chromosomes in a significant proportion of cases. We have the opportunity to karyotype two pilocytic astrocytomas occurring in 5- and 15-year-old children. These tumors were characterized by stemlines of 49,XY,+4,+7,+8 and 48,XX,+7,+8. Using these patients as index cases and based on additional karyotypic data that have been published, we performed fluorescence in situ hybridization on 25 additional cases of low-grade astrocytomas in children using pericentromeric probes for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 15, and 17. Six of 18 (excluding the two index cases), or one third, of the pilocytic astrocytomas were characterized by chromosomal gains, most commonly chromosomes 7 and 8, suggesting that trisomy 7 and 8 are relatively common events in the tumorigenesis of pilocytic astrocytomas. In contrast, chromosomal trisomies were not detected in seven well-differentiated fibrillary astrocytomas with any of the probes chosen.

Adolescent↗
PubMed1995

Twin pregnancies with complete hydatidiform mole and coexisting fetus: use of fluorescent in situ hybridization to evaluate placental X- and Y-chromosomal content.

Twin pregnancies with a complete hydatidiform mole (CHM) and a coexisting fetus have an aggressive postevacuation behavior; it is, therefore, important to differentiate these cases from partial hydatidiform moles that rarely require treatment for late sequelae. It has been presumed that twin pregnancies with a CHM and a coexistent fetus are dizygotic gestations, but this has not been confirmed in most cases. The authors investigated the sex chromosomal constitution of paraffin-embedded, formalin-fixed placental tissues in nine pregnancies histopathologically diagnosed as twin gestations with CHM and coexisting fetus, using fluorescent in situ hybridization (FISH) with X- and Y-chromosomal probes. Normal placental tissues showed an even sex distribution--four cases: X signal only, presumably female; four cases: X and Y signals, presumably male. In contrast, all molar tissues of these same pregnancies hybridized with the X-chromosomal probe only. Thus, in four of nine cases, gender differences (ie, different sex chromosome content) in molar villi (X chromosome only, cytogenetic female) versus normal villi (both sex chromosomes, cytogenetic male) confirmed the histopathological diagnosis of dizygotic twinning; a strict relationship between villous morphology (molar vs normal) and chromosomal gender was observed in each instance. This study illustrates that use of FISH on paraffin-embedded tissues can retrospectively establish dizygotic twinning in this unusual type of molar gestation.

DNA, Neoplasm↗
PubMed1995

An unusual round cell tumor of the tibia with granular cells.

We present the clinical, radiographic and histopathologic findings of an unusual tumor that originated in the diaphysis of the tibia in a 10-year-old boy. Clinical symptoms had been present for approximately 2 years and radiographic abnormalities for > or = 8 months before biopsy and subsequent resection of the neoplasm. The child is doing well 4 1/2 years later. Microscopically, the tumor was not typical of any bone tumor with which we are familiar. It was a round-cell tumor with extensive fibrosis, prominent cytoplasmic granularity, and isolated immunoreactivity for vimentin, epithelial membrane antigen, and antichymotrypsin. Ultrastructural examination uncovered the presence of both well-formed desmosomes and cell-associated basement membrane material in addition to abundant phagolysosomes. Classification of this tumor is a challenge; the differential diagnosis includes atypical adamantinoma, atypical Ewing's sarcoma, and small-cell osteosarcoma. We favor the former interpretation, although we raise the possibility that it may be a unique lesion.

Bone Neoplasms↗
PubMed1995

Large nasal tip teratoma.

Congenital teratoma rarely occurs in the craniofacial region. We present an infant with a nasal tip teratoma that was documented by ultrasonographic examination. The tumor was excised at 1 day of life, and the splayed upper and lower lateral cartilages were apposed primarily. The remaining redundant skin was excised in a second stage. To our knowledge, this is the first reported case of a nasal tip teratoma.

Adult↗
PubMed1994

Chromosome aberrations in choroid plexus papillomas.

Karyotypic data on choroid plexus papillomas are scarce and, to date, have revealed no consistent aberrations. We karyotyped a choroid plexus papilloma which was characterized by a stemline of 52,XX, + 7, + 11, + 12, + 12, + 15, + 18. Additional copies of chromosomes 16, 17, and 20 were also observed in a significant proportion of the metaphase cells analyzed. Based upon this index case, we retrospectively analyzed eight additional choroid plexus papillomas by fluorescence in situ hybridization by using pericentromeric probes to chromosomes 7, 11, 12, 15, 16, 17, 18, and 20. Extra hybridization signals were observed in five of the eight cases examined. All five cases had extra signals with the chromosome 7 probe, four cases had extra signals with the chromosome 12 probe, and three cases had extra signals with the chromosome 15, 17, and 18 probes. The overall DNA content of these same cases (as determined by image analysis) suggests that gains of additional chromosomes other than those examined may be present.

Adolescent↗
PubMed1994

Fibrosarcoma in infants and children. Application of new techniques.

Fibrosarcomas occurring in infants and young children are intriguing tumors. Although biologically more benign than their counterparts occurring in old patients, they are histologically similar. Microscopically, they fit in one end of a spectrum of fibrous proliferations occurring in the pediatric population. Prompted by recent karyotypic reports of nonrandom gains of chromosomes 8, 11, 17, and 20 in infantile fibrosarcomas, we retrospectively analyzed 12 infantile fibrosarcomas utilizing fluorescence in-situ hybridization (FISH) with chromosome 8-, 11-, 17-, and 20-specific probes. Parallel studies were performed on fibrosarcomas occurring in older children and young adults and also on cellular fibromatoses, myofibromatoses, and fibromatoses. Gains of chromosomes 8, 11, 17, and 20 (in various combinations) were observed in 11 of 12 fibrosarcomas occurring in infants < 2 years of age. Extra copies of chromosomes 17 and 20 were observed in a fibrosarcoma occurring in a 5-year-old child but no abnormalities were detected by FISH in four additional fibrosarcomas occurring in patients aged 6-17 years. One of three cellular fibromatoses was characterized by extra copies of chromosome 8, 11, 17, and 20. Similar findings were not observed in any of the noncellular fibromatoses or in myofibromatoses.

Adolescent↗
PubMed1993

Chromosome aberrations in mesoblastic nephroma.

Mesoblastic nephroma (MN) is the most common renal tumor diagnosed in infancy. Histologically, MNs are designated as classic, cellular, or mixed type based upon variations in cellularity. Recent karyotypic reports have suggested that extra copies of chromosome 11 are a nonrandom occurrence in MNs. We analyzed nuclear suspensions prepared from a group of 17 formalin-fixed, paraffin-embedded tumors to determine the possible role of chromosome 11 copy number in the genesis of MN. Extra copies of D11Z1 (a probe for the centromeric region of chromosome 11) were detected in seven out of 10 MNs with cellular or mixed histology, whereas each of six classic histology MNs were disomic for D11Z1 (P < 0.05). Additional fluorescence in situ hybridization studies utilizing the probes for the alpha satellite, centromeric regions of chromosomes 7, 8, 9, 12, 17, and 20 were then carried out on all cases with cellular or mixed histology. Five out of 10 cellular or mixed MNs had extra copies of D8Z1, and four out of 10 had extra copies of D17Z1, suggesting that gains of chromosomes 8 and 17 may be additional nonrandom cytogenetic events associated with the evolution of MNs. DNA aneuploidy, as determined by image analysis, was detected in three tumors: all had greater than four chromosomal aberrations documented by fluorescence in situ hybridization.

Chromosome Aberrations↗
PubMed1992

DNA content and other prognostic features in childhood medulloblastoma. Proposal of a scoring system.

The authors reviewed clinical features, surgical extent of resection, histologic parameters, and DNA content in 55 children with medulloblastomas and found that complete or near total resection, absence of tumor dissemination, tumor DNA aneuploidy, and low proliferative index correlated with a favorable clinical outcome. A scoring system was developed based upon these features to identify patients who, in the future, may benefit from more aggressive or novel therapeutic regimens. Patient age and sex and adjuvant chemotherapy did not significantly correlate with long-term survival. The data also suggest that tumors that have been designated as cerebellar neuroblastomas may be a distinct group of posterior fossa tumors, which may have a better prognosis.

Adolescent↗
PubMed1992

Gaucher's disease in the presence of normal glucocerebrosidase activity.

We encountered an infant with clinical and histopathologic features of Gaucher's disease (infantile, type 2) with normal glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase, E.C.3.2.1.45) activity. Biochemical analysis was performed on leukocytes, cultured skin fibroblasts, and liver. Normal activity of glucocerebrosidase previously has been reported in an older child with juvenile onset (type 3) Gaucher's disease and attributed to a deficiency of a sphingolipid activator protein. These rare cases illustrate and expand our concept of Gaucher's disease and may have both diagnostic and therapeutic implications.

Autopsy↗
PubMed1992

Gastrointestinal microvillus inclusion disease.

A 3-year-old girl of Navajo heritage had intractable diarrhea beginning at 4 days of age and resulting in long-term hyperalimentation. Investigation before multivisceral transplantation included biopsies of the rectum, stomach, duodenum, and liver. The diagnosis of microvillus inclusion disease was established by documentation of microvillus inclusions in duodenal epithelial cells. A trial of somatostatin therapy was ineffective in controlling the diarrhea. Subsequently, a multivisceral organ transplant provided a unique opportunity to establish the gastrointestinal extent of involvement of this disease. Ultrastructural microvillus inclusions were identified in the duodenum, jejunum, ileum, and colon, but not in the gallbladder. A few inclusions also were documented in gastric antral epithelial cells. Alkaline phosphatase stains performed on paraffin-embedded material showed a few inclusions in the antrum of the stomach and many inclusions throughout the small intestine, primarily in surface epithelial cells but also in upper crypt cells.

Diarrhea, Infantile↗
PubMed1992

Diagnostic histopathology, cytogenetics, and molecular markers of pediatric brain tumors.

The purpose of this article is to summarize some of the current issues in diagnostic histopathology and to provide an update of both molecular and cytogenetic studies of the most commonly encountered pediatric brain tumors. Most of the discussion focuses on astrocytomas, primitive neuroectodermal tumors and medulloblastomas, and ependymomas because they make up the majority of these neoplasms. A few comments on choroid plexus tumors are also included.

Astrocytoma↗
PubMed1992

Trisomy 12 in pediatric granulosa-stromal cell tumors. Demonstration by a modified method of fluorescence in situ hybridization on paraffin-embedded material.

The use of fluorescence in situ hybridization (FISH) to detect chromosomal abnormalities has many applications. Use of FISH on archival, paraffin-embedded material has been limited to microscopic sections. We have carried out FISH on preparations of disaggregated nuclei obtained from paraffin-embedded tissue to evaluate chromosome 12 copy number in granulosa-stromal cell neoplasms occurring in infants, children, and adolescents. Trisomy 12 was detected in the majority of cells from three of four juvenile granulosa cell tumors (three ovarian and one testicular) and one malignant granulosa cell tumor. Tetrasomy 12 was observed in a case of ovarian thecoma.

Cell Nucleus↗