HEPATIC UNDIFFERENTIATED (EMBRYONAL) SARCOMA: A CASE REPORT WITH FINE NEEDLE ASPIRATION CYTOLOGY AND HISTOLOGY

Hepatic undifferentiated (embryonal) sarcoma is an unusual malignant liver tumor with an overwhelming predilection for children. Fine needle aspiration (FNA) cytology of these tumors rarely has been described in the literature. In this report, we described the clinical, radiologic, cytomorphologic, histopathologic, immunohistochemical, and DNA ploidy features of a similar tumor in an 18 year-old patient. The FNA smears showed clusters and isolated tumor cells with marked variation in morphology including spindle cells, large bizarre anaplastic cells, and giant tumor cells. The histopathologic sections recapitulated the varied morphologic patterns within the tumor cells and also showed characteristic eosinophilic intra- and extracytoplasmic globules. DNA ploidy studies, by image analysis, demonstrated this tumor as an aneuploid tumor, indicating poor prognosis. FNA cytology can be utilized as a sensitive screening tool for these rare tumors.     

THE ROLE OF FINE NEEDLE ASPIRATION BIOPSY IN THE DIAGNOSIS AND MANAGEMENT OF OSTEOSARCOMA

We retrospectively reviewed our experience with fine needle aspiration biopsy (FNAB) in the diagnosis and management of skeletal osteosarcoma. The bi-institutional study sample involved 30 consecutive aspirates from 29 patients (28 primary tumors, 1 pulmonary metastasis, 1 local recurrence). There were 17 children and 12 adults. Two aspirates were unsatisfactory for diagnosis. Of the adequate primary osteosarcoma cases analyzed by FNAB, 24 of 26 were diagnosed as osteosarcoma. All pediatric cases were correctly interpreted as osteosarcoma and treated appropriately. There were 2 incomplete diagnoses. A secondary osteosarcoma arising within an otherwise clinically, radiologically, and histologically typical giant cell tumor (malignant giant cell tumor) was not diagnosed preoperatively on FNAB due to nonrepresentative sampling. Chronologically, the first patient with osteosarcoma analyzed by FNAB was diagnosed simply as "spindle cell neoplasm." No complications resulted from the procedure. With adequate clinical and radiologic correlation, FNAB represents a technically, easily performed, cost-effective, and accurate procedure for establishing the diagnosis of skeletal osteosarcoma. Immediate interpretation of aspirated material allows for therapy planning and oncologic consultation at the initial clinic visit.     

THE ROLE OF FINE NEEDLE ASPIRATION BIOPSY IN THE DIAGNOSIS AND MANAGEMENT OF OSTEOSARCOMA

We retrospectively reviewed our experience with fine needle aspiration biopsy (FNAB) in the diagnosis and management of skeletal osteosarcoma. The bi-institutional study sample involved 30 consecutive aspirates from 29 patients (28 primary tumors, 1 pulmonary metastasis, 1 local recurrence). There were 17 children and 12 adults. Two aspirates were unsatisfactory for diagnosis. Of the adequate primary osteosarcoma cases analyzed by FNAB, 24 of 26 were diagnosed as osteosarcoma. All pediatric cases were correctly interpreted as osteosarcoma and treated appropriately. There were 2 incomplete diagnoses. A secondary osteosarcoma arising within an otherwise clinically, radiologically, and histologically typical giant cell tumor (malignant giant cell tumor) was not diagnosed preoperatively on FNAB due to nonrepresentative sampling. Chronologically, the first patient with osteosarcoma analyzed by FNAB was diagnosed simply as spindle cell neoplasm. No complications resulted from the procedure. With adequate clinical and radiologic correlation, FNAB represents a technically, easily performed, cost-effective, and accurate procedure for establishing the diagnosis of skeletal osteosarcoma. Immediate interpretation of aspirated material allows for therapy planning and oncologic consultation at the initial clinic visit.     

USE OF FINE NEEDLE ASPIRATION FOR FIBROBLAST CULTURE

Diagnosis in certain metabolic diseases or the establishment of long-term reservoirs of cytogenetic material requires tissue culture of fibroblasts obtained by skin snip or punch biopsy. Fine needle aspiration biopsy (FNAB) was investigated as an alternative method of fibroblast collection with advantages of minimal morbidity and the potential of better patient acceptance. After flank FNAB, culture, and incubation, confluent fibroblast growth was achieved within 19 days. The number of cells produced was sufficient for potential cytogenetic or metabolic studies. Cultured fibroblasts obtained via FNAB proved to be a successful alternative to skin biopsy, with reduced trauma and better cosmetic results.     

THE 18p- SYNDROME: A CASE REPORT AND BRIEF REVIEW OF THE LITERATURE

A female baby with multiple developmental anomalies died at 2 months of age. The malformations included microcephaly and gross facial defects. Chromosome studies revealed a deletion of the short arms of a no. 18 chromosome.     

RETROPERITONEAL NEUROFIBROSARCOMA IN A PATIENT WITH NEUROFIBROMATOSIS 2: A CASE REPORT AND REVIEW OF THE LITERATURE

Neurofibromatosis (NF) type I (NF1) is the most common familial cancer-predisposing syndrome in humans, while type 2 (NF2) accounts for an extremely small percentage of the total cases of NF. Tumors occurring in patients with NF1 are primarily peripheral neurofibromas, while NF2 patients present with central schwannomas. Malignant transformation has been described in NF1 patients; however, in NF2 the risk of malignant transformation is extremely rare. In this case report, the authors document a retroperitoneal neurogenic sarcoma occurring in a 20-year-old woman with NF2 (bilateral acoustic schwannomas, meningioma, and multiple intraspinal tumors).     

COEXISTENCE OF DIGEORGE SYNDROME AND TANGIER DISEASE IN A ONE-YEAR-OLD INFANT. CASE REPORT AND REVIEW OF THE LITERATURE

Tangier Disease (TD), a rare autosomal disorder, is characterized by low plasma cholesterol, decreased or absent A-I apolipoprotein and normal or elevated plasma triglycerides. TD was diagnosed antemortem by serologic and electrophoretic studies. Careful examination of the organs at autopsy showed the presence of lipid-laden macrophages, the hallmark of TD, only in the rectosigmoid mucosa, and not in other organs usually affected in TD. These findings indicate that the widespread distribution of lipid deposits may be absent in patients with TD early in life. In addition, DiGeorge syndrome (DGS) was recognized at autopsy by absence of the thymus and presence of only one parathyroid, thus explaining the multiple opportunistic infections during life.     

MATERNAL PULMONARY ADENOCARCINOMA METASTATIC TO THE FETUS: FIRST RECORDED CASE REPORT AND LITERATURE REVIEW

We report the first maternal pulmonary adenocarcinoma metastatic to the fetus, as well as an updated literature review. Review of the literature revealed that there have been only 67 cases of maternal malignancy metastatic to the products of conception. These were mostly malignant melanoma and hematopoietic tumors. A 46-year-old multiparous woman with metastatic pulmonary adenocarcinoma, diagnosed at 23 weeks gestation, delivered a male infant who appeared normal at birth. The mother died 2 days after delivery. The child developed multiple scalp tumors at 2 weeks of age. The tumors recurred rapidly after initial resection. Wide local excision of the involved scalp and skin graft coverage was performed at 14 weeks of age. Histopathology of these tumors was identical to that of the maternal tumor. The maternal origin of these tumors was confirmed by fluorescence in situ hybridization (FISH). The child is now 5 years old and free of disease.     

CEBOCEPHALY: A REPORT OF FIVE POST-MORTEM CASES AND A REVIEW OF LITERATURE1

There appears to be a high incidence in Singapore of this rare congenital anomaly. Although the population consists of Malays, Chinese, Indians, Europeans and others, all 5 cases reported were offspring of Chinese. The aetiology is unknown and the condition is only of theoretical interest as there is no method of management or treatment. Most cases die early.     

TRANSIENT HYPERGLYCAEMIA, ACIDOSIS AND COMA. A CASE REPORT AND REVIEW OF NINE SIMILAR CASES

Excessive hyperglycaemia, occurring in diseases associated with disturbances of the electrolytes and abnormalities of the central nervous system, form an entity distinct from either temporary neonatal diabetes mellitus or diabetes mellitus as seen in older children. This paper reports on an episode of hyperglycaemia (465 mgm/dl in the plasma) in a child suffering from acidosis and dehydration, accompanied by disturbances in the nervous system. 9 other cases of hyperglycaemia of this type are tabulated. The common factor would appear to be the combination of disturbances in the serum electrolytes and the central nervous system. The actual mechanism producing this derangement of glucose homeostasis is unknown but may be mediated through the adrenal cortex.     

CYTOGENETIC FINDINGS IN 36 OSTEOSARCOMA SPECIMENS AND A REVIEW OF THE LITERATURE

Tumor-specific chromosomal abnormalities have been shown to characterize certain subgroups of mesenchymal neoplasms. Identification of these abnormalities has proven useful diagnostically and has provided direction for molecular studies of pathogenetically important genes. Recent studies focusing on cytogenetic and molecular cytogenetic findings in osteosarcoma have expanded our knowledge of chromosomal alterations in this neoplasm and are pointing to recurrent regions of interest. In our study, the cytogenetic findings of 36 osteosarcoma specimens and a review of the literature (for a total of 161 specimens) are provided. Molecular cytogenetic studies were performed on two specimens. Clonal chromosomal abnormalities were detected in 25 of 36 specimens and included 17 near - diploid, 8 near-triploid, 2 near-tetraploid, and 8 specimens with multiple clones of different ploidy levels. Examination of the present data and previously published results reveals that chromosomal bands or regions 1p11-13, 1q11-12, 1q21-22, 11p14-15, 14p11-13, 15p11-13, 17p, and 19q13 are most frequently rearranged, and the most common numerical abnormalities are +1, -9 , -10 , -13, and -17. The majority of osteosarcomas examined were characterized by complex karyotypes.     

HEREDITARY FRUCTOSE INTOLERANCE: REPORT OF A CASE AND COMMENTS ON THE HAZARDS OF FRUCTOSE INFUSION

A 3 year old child with hereditary fructose intolerance had been recognised by her parents as unable to metabolise cane sugar and fruit sugar, and had been reared very successally without professional aid. She developed appendicitis with pelvic peritonitis, and the unfortunate use of fructose infusion caused hepato-renal failure and death. The diagnosis was confirmed by postmortem assay of hepatic fructose-1-phosphate aldolase. A plea is made for care in the use of fructose infusion in all patients, especially in the newborn, and in those with liver disease. 3 other illustrative case histories are presented to support a claim that fructose infusion is potentially harmful and must be carefully monitored.     

ASSOCIATION BETWEEN MULTIPLE INTESTINAL ATRESIA AND OMPHALOCELE: A CASE REPORT

Multiple intestinal atresia is a rare disorder with vascular or hereditary etiology. So far, the occurrence of this malformation along with omphalocele has not been reported. We describe a boy born from a nonconsanguineous gypsy couple with intrauterine growth retardation, omphalocele, and multiple intestinal atresia from the pylorus to the rectum. The microscopic examination of the intestine shows multiple small lumina with a sieve-like appearance. This is characteristic of the hereditary atresias and suggests development of a defect in (re)canalization during embryogenesis. The association with omphalocele indicates a common developmental defect may be present.     

TYROSINOSIS: REPORT OF A CASE DEMONSTRATING IN VIVO DELAY IN TYROSINE BREAKDOWN AND EXCESS RENAL LOSS OF INSULIN

The presentation, clinical and laboratory findings of a child with tyrosinosis are described. A low tyrosine and low phenylalanine diet produced considerable improvement, Investigation demonstrated an excessive loss of insulin in the urine. An experimental in vivo measurement of the rate of catabolism of tyrosine labelled with ¹⁴C confirmed the reported findings of a reduction in the rate of catabolism of tyrosine in vitro.     

KNIEST DYSPLASIA: CLINICAL, PATHOLOGIC, AND MOLECULAR FINDINGS IN A SEVERELY AFFECTED PATIENT - AND REVIEW OF THE LITERATURE

Kniest dysplasia is a chondrodysplasia characterized by disproportionate dwarfism and facial dysmorphic features. Enchondral ossification of hyaline cartilage is impaired, and histologic examination of cartilage shows an abnormal structure ('Swiss cheese' pattern). Dominant mutations within the gene encoding for collagen II (COL2A1), the major cartilage matrix protein, have been identified as the unifying genetic defect. Our paper describes the clinical, radiologic, pathologic, and molecular features of a patient with severe Kniest dysplasia carrying a novel splice site mutation at position + 1 of intron 22 of the COL2A1 gene with presumed skipping of exon 22. We compare our findings with all published Kniest patients with identified COL2A1 gene mutations. There is a strong association between collagen II chain length variation and Kniest dysplasia (as opposed to amino acid substitutions), suggesting a distinct pathophysiologic mechanism leading to the characteristic 'hypertrophy' of cartilage; the nature of this mechanism is discussed.     

NEOPLASTIC DISEASE AND DELETION 22q11.2: A MULTICENTRIC STUDY AND REPORT OF TWO CASES

Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.