Primary bone tumours of the hand

Twenty-one primary bone tumours of the hand in children from 8 paediatric hospitals are reported. Osteochondromas and enchondromas were not included. Our material consisted of 16 patients with common tumours (3 Ewing's sarcoma, 5 aneurysmal bone cyst, 6 osteoid osteoma and 2 epidermoid cyst) and 5 patients with uncommon tumours (osteoma, simple bone cyst, haemangiopericytoma, capillary angiomatous tumour and benign ossifying fibroma or osteoblastoma). The X-ray diagnosis of the common tumours should have high concordance with histology, whereas that of uncommon tumours is much more difficult and uncertain. The characteristic features of Ewing's sarcoma are stressed as all our children with this tumour had a delayed diagnosis and a fatal outcome. Differential diagnosis with other short tubular bone lesions of the hand - specifically osteomyelitis - is discussed and the possibilities of microscopic diagnosis are stressed.     

Androgen secreting adrenocortical tumours.

BACKGROUND: Androgen secreting adrenocortical tumours are rare in children and the determination of their malignant potential can be difficult. OBJECTIVES: To assess the presentation, histology, and clinical behaviour of these tumours. SETTING: Two tertiary referral centres. STUDY DESIGN: Retrospective analysis of children diagnosed with an androgen secreting adrenocortical tumour between 1976 and 1996. PATIENTS: Twenty three girls and seven boys aged 0-14 years. RESULTS: Pubic hair was observed in all children, clitoromegaly or growth of the phallus in 23 children, acceleration of linear growth in 22 children, and advanced bone age (> 1.5 years) in 18 children. Hypersecretion of androgens was detected by assessment of serum androgen concentrations alone in four patients and by 24 hour urine steroid excretion profiles in 22 patients. All 16 tumours measuring < 5 cm in diameter were benign. Of the tumours measuring 5-9 cm, three were malignant and seven were benign, whereas all four tumours > 10 cm were malignant. Histological slides were available for reassessment in 25 children. Although mitoses and necrosis were more characteristic of tumours with malignant behaviour, no exclusive histological features of malignancy were seen. CONCLUSION: Histological criteria for malignancy are not reliable, whereas tumour size is important in assessing malignant potential.     

Primary bone tumours in infants

Ten cases of primary bone tumours in infants (1 osteosarcoma, 3 Ewing's sarcoma, 1 chondroblastoma and 5 angiomatosis) are reported. All cases of angiomatosis showed characteristic radiographic findings. In all the other tumours the X-ray appearances were different from those usually seen in older children and adolescents. In the authors' opinion the precise diagnosis of malignant bone tumours in infancy is very difficult as no characteristic X-ray features are present in this age period.     

Androgen secreting adrenocortical tumours

BACKGROUND—Androgen secreting adrenocortical tumours are rare in children and the determination of their malignant potential can be difficult.OBJECTIVES—To assess the presentation, histology, and clinical behaviour of these tumours.SETTING—Two tertiary referral centres. Study design—Retrospective analysis of children diagnosed with an androgen secreting adrenocortical tumour between 1976 and 1996.PATIENTS—Twenty three girls and seven boys aged 0-14 years.RESULTS—Pubic hair was observed in all children, clitoromegaly or growth of the phallus in 23 children, acceleration of linear growth in 22 children, and advanced bone age (> 1.5 years) in 18 children. Hypersecretion of androgens was detected by assessment of serum androgen concentrations alone in four patients and by 24 hour urine steroid excretion profiles in 22 patients. All 16 tumours measuring < 5 cm in diameter were benign. Of the tumours measuring 5-9 cm, three were malignant and seven were benign, whereas all four tumours > 10 cm were malignant. Histological slides were available for reassessment in 25 children. Although mitoses and necrosis were more characteristic of tumours with malignant behaviour, no exclusive histological features of malignancy were seen.CONCLUSION—Histological criteria for malignancy are not reliable, whereas tumour size is important in assessing malignant potential.     

Therapeutic difficulties in soft tissue sarcoma occurring in children with neurofibromatosis type 1 - own observations

Neurofibromatosis type I (NF1) is one of the most common genetic disorders in man, predisposing to benign and malignant tumours. The most common malignancies comprise nervous system tumours, less frequently soft tissue sarcomas (STS) and leukaemia - myelodysplasia syndrome. Herein we report five cases of STS diagnosed in children affected with NF1 (3 girls and 2 boys, age: 8 months -17 years). Neurogenic tumours were diagnosed in three children (malignant peripheral nerve-sheath tumour in two and malignant triton tumour in one), while soft tissue sarcomas of rhabdomyosarcoma origin were found in two patients. In four cases the primary tumours were highly locally advanced, unresectable and located in pelvis minor. All patients received protocols for soft STS: CWS-91, 96 and 2002. The paper presents the clinical symptomatology, the course and outcome in children with NF1 affected with STS. CONCLUSION: basing on our own observations STS in NF1 seems to have poor prognosis in spite of combined therapy. Since early diagnosis is essential, children with NF1 should remain under the care of the oncologist.     

Osteoblastic metastases from astrocytomas: A report of two cases

The spread of primary central nervous system (CNS) neoplasms beyond the confines of the neuraxis is a relatively uncommon observation. Extraneural metastases involving bone are quite rare, and have been observed almost exclusively in cases of medulloblastoma, high-grade (III-IV) astrocytoma, and glioblastoma multiforme. To date there has been only one case reported of bone metastasis from a “well-differentiated” astrocytoma. We now report two cases of astrocytoma in children with diffuse osteoblastic metastases and a fulminant clinical course. These cases demonstrate that due to the potential morphologic heterogeneity of these neoplasms, an initial biopsy diagnosis of low-grade astrocytoma does not always imply a benign clinical course.     

Primary B-cell lymphoma of bone in children

Primary lymphoma of bone (PLB) is a rare entity of extranodal non-Hodgkin lymphoma (NHL). We report on two children with PLB focussing on diagnostic evaluation and treatment strategy. Clinical and radiographic presentation in both children suggested a primary bone tumour such as Ewing sarcoma. A 13-year-old girl showed osteolytic tumours in the right 7th rib and right iliac crest. Additional skeletal lesions were found by whole-body positron emission tomography. A 6-year-old boy presented with an isolated, osteolytic lesion of the left distal femur. In both patients staging procedures excluded any organ involvement besides the skeletal tumours. Tumour biopsy and immunohistological studies revealed lymphoblastic non-Hodgkin lymphoma of B-cell lineage in both children. They received a polychemotherapy for B-cell lymphoma according to the NHL-BFM 95 protocol and are in complete remission with a follow up of 24 and 18 months respectively. Conclusion Isolated, primary lymphoma of bone in children may clinically and radiographically impose as primary bone tumour. Multiple therapeutic strategies have been applied in the treatment of this malignancy, however, treatment modalities are not well focussed on immunological patterns in the case of primary lymphoma of bone. Staging techniques should include immunophenotyping to initiate specific cell lineage treatment. Received: 1 March 2000 / Accepted: 7 November 2000     

Multiple fibroepithelial polyps of the upper ureter in a 17-year-old boy--case report and review of the literature.

Benign tumours and primary malignant tumours of the ureter are uncommon in adults and extremely rare in children. The clinical symptoms are flank pain, urinary tract infection, and macro/micro-haematuria. There is an incomplete ureteral obstruction and filling defect on intravenous urography (IVU). Optimum treatment of this lesion results in renal preservation. Uretero-renoscopy is currently the best method available for the identification and histological diagnosis of ureteral polyps. Recommended operative procedures are pyeloureteric junction (PUJ) resection with Anderson-Hynes pyeloplasty, ureteric resection with end-to-end anastomosis or with uretero-cysto-neoanastomosis (UCNA), ureteric resection with renal autotransplantation. Ureteronephrectomy is not indicated. A case of ureteral polyps in a 17-year-old boy with the chief complaint of left flank pain is reported here. The excretory urogram and renal scan showed left hydronephrosis. Resection of the pyeloureteral junction, partial resection of the upper ureter containing the lesions--multiple branching 30-40 mm long polyps with a common basis--and Anderson-Hynes pyeloplasty were performed. The pathological diagnosis was benign fibroepithelial polyps of the ureter. Convalescence was uneventful and after 4 years of follow-up, excretory urogram and ultrasonography showed good renal function and improvement of hydronephrosis.     

Secondary localisation of an intra-thoracic benign mesenchymoma in the fossa poplitea: a rare paediatric case.

Thymomas are tumours that rarely occur in children, are almost invariably benign, and are usually discovered incidentally in the anterior mediastinum on chest X-rays. Whereas in adults these tumours are often associated with myasthenia gravis and other autoimmune diseases, this occurrence is very rare in the paediatric population. Multiple localisation and/or extra-thoracic recurrence of thymomas in children also appears to be exceptional with no reported cases in the English literature. We report one rare paediatric case.     

Primary liver tumours in children in Victoria: incidence and pathology

This paper reviews the incidence and pathology of liver tumours in children in the State of Victoria from 1955 to 1987. Seventy-four cases were found and are believed to represent all liver tumours in the State during that time. There were 29 benign and 45 malignant tumours. The benign tumours comprised 13 haemangiomas, 12 mesenchymal hamartomas, and 4 epithelial lesions. The malignant tumours were 30 hepatoblastomas, 8 embryonal sarcomas, 4 hepatocellular carcinomas, and 3 miscellaneous tumours. The haemangiomas were more commonly cavernous. Four were associated with skin lesions and 3 of these were capillary in type. Mesenchymal hamartomas varied from predominantly solid to predominantly cystic. All, however, contained hamartomatous collections of ducts and liver cells irregularly arranged in dense fibrous tissue. The commonest malignant tumour was hepatoblastoma, and there were 15 of predominantly epithelial type and 15 of mixed epithelial and mesenchymal type. The 8 undifferentiated sarcomas of embryonal pattern were characterised by pleomorphism of cells, bizarre giant cells, and extensive mucoid stromal change. Four examples of hepatocellular carcinoma were seen. All were multifocal and no further case has been seen for the last 15 years. The 3 miscellaneous tumours were gastrinoma, rhabdoid tumour, and myofibroblastic tumour of uncertain histogenesis. Incidence was calculated for the period of review. The rate for benign tumours was 0.81 per million children per year and for malignant tumours 1.33 per million children per year. Surgery for hepatobalstoma was shown to be the most important factor in improving survival.     

DIAGNOSTIC AIDS FOR BENIGN TUMOURS OF THE LIVER IN CHILDREN

ABSTRACT. Holmin, T. and Kullendorff, C. M. (Departments of Surgery and Paediatric Surgery, University of Lund, Sweden). Diagnostic aids for benign tumours of the liver in children. Acta Paediatr Scand, 70:755,.–Primary benign tumour of the liver in 2 children was successfully extirpated. The tumours had appeared as a palpable abdominal mass. Laboratory examinations, pulmonary X-ray and urography were in the main normal. Abdominal plain films revealed an expansive process. Ultrasonography and computerized tomography showed in one of the cases a left-sided homogeneous tumour of the liver. These non-invasive methods of investigation are easy to perform in children and give ample information. Angiography appears to be no longer necessary in the preoperative investigation. The treatment of localized benign tumours is mainly surgical. With the exception of hemangioma, the prognosis in cases of benign hepatic tumour is good.     

Extensive brown tumors caused by parathyroid adenoma in an adolescent patient

Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entities. Moreover, the skeletal involvement in primary hyperparathyroidism secondary to parathyroid adenoma is extremely rare. We report on an adolescent girl with multiple brown tumors and a history of recurrent fractures as the manifestation of primary hyperparathyroidism associated with a parathyroid adenoma. The patient’s clinical presentation mimicked parathyroid carcinoma. She had a large tumor associated with marked elevation in the parathyroid hormone and serum calcium levels. Skeletal manifestations were also atypical for benign primary hyperparathyroidism, with widespread brown tumors in the patient. None of the authors received financial support for this study.     

Liver tumours in children

Since 1955, 56 children (29 M: 27 F) with primary liver tumours have been treated at the Royal Children's Hospital. Ranging in age from neonates to 14 years, they most frequently presented with an abdominal mass. The position, size, and vascularity of the tumour were assessed preoperatively by ultrasound +/– angiography. An elevated serum alpha-feto-protein was confirmatory evidence of a hepatoblastoma. In the malignant group (33), 70% of the children had tumour resection with 5 surgical deaths. The long-term survival in the resected group was 15/23 (65%). No children survived without resection. In the benign group (23), 8 children had an arteriovenous malformation (7 neonates). Six are alive and well following hepatic lobectomy with 1 dying of cardiac failure before the diagnosis was established. The other benign tumours were either removed by local excision (10), lobectomy (3), or biopsied (2). All children are alive and well. In those children requiring hepatic lobectomy, hypothermia and hypotension were used as adjuncts to anaesthesia. The commonest operative complication was blood loss (50%). The technique of total vascular isolation was introduced in 1975 and reduced the incidence to 16%. The use of chemotherapy enabled subsequent tumour resection in 4 of 5 tumours that were initially unresectable. Chemotherapy was also given postoperatively to 8 of 17 patients surviving resection.     

Epidemiology of bone tumours in children and young adults

Although the epidemiology of malignant bone tumours in children and young adults has been explored, no definitive causation of any specific tumour has yet been identified. We performed a literature review (1970–2008) to find all papers covering possible aetiological factors involved in the development of bone tumours in children and young adults. Several associations have been reported with some consistency: the presence of hernias and Ewing sarcoma; high fluoride exposure and osteosarcoma; and parental farming and residence on a farm, younger age at puberty and family history of cancer for all bone tumours, especially osteosarcoma. Clearly further research is needed to confirm or refute these putative risk factors. It is likely that studies of gene–environment interactions may prove to be the most fruitful of future research. Pediatr Blood Cancer 2009;53:941–952. © 2009 Wiley‐Liss, Inc.     

Solitary osteochondroma: spontaneous regression

Osteochondromas are the most common benign bone tumours. Nevertheless, their origin and biological behaviour are poorly understood. Rarely, spontaneous regression of osteochondromas may occur. We report the case of a 9-year-old girl with a solitary osteochondroma of the femur that regressed almost completely within 4 years, a fact that should be taken into account when deciding the management of these lesions, especially in young children.     

Computerised tomography in the evaluation of expansile lesions arising from the skull vault in childhood — a report of 5 cases

Expansile lesions of the skull vault are rare in childhood, and often present as relatively asymptomatic calvarial swellings. The cases of 5 children with expansile lesions of the skull vault due to both benign and malignant primary bone lesions are described. The value of computerised tomography in demonstrating that the “tumour” arises primarily from the skull vault as opposed to the underlying brain, and in demonstrating clinically unsuspected endocranial extension of the mass is described. The CT findings in 2 cases of aneurysmal bone cyst, including the significance of the presence of “fluid levels” in reaching a definitive diagnosis are discussed. The successful pre-operative embolisation in one case of aneurysmal bone cyst is reported.     

Transient hyperphosphatasemia--where do we stand?

Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased serum activity of alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased SALP, nor is there a disease common to all children with THI. To date, THI has been reported in more than 400 children. Viral etiology of THI has been proposed; transiently increased bone turnover and impaired clearance of ALP from the serum were originally considered as its causes. The pathogenesis is most probably multifactorial. THI is a benign disorder, as prospective follow-up of children with a history of TH revealed normal growth and normal bone density. Children with TH should be spared from excessive diagnostic procedures.     

The epidemiology of neonatal tumours

Neonatal tumours occur every 12,500–27,500 live births and comprise 2% of childhood malignancies, but there is little clarity as to their real prevalence, sites of origin and pathological nature as reported series vary. As an entity, neonatal tumours provide a unique window of opportunity to study tumours in which minimal environmental interference has occurred. The majority of tumours present with a mass at birth (e.g., teratomas, neuroblastomas, mesoblastic nephroma, fibromatosis), which are not infrequently identified on antenatal ultrasound. Histologically, teratoma and neuroblastoma remain the two main tumour types encountered with soft tissue sarcoma, renal tumours, CNS tumours and leukaemia being the next most common tumour types identified. Malignant tumours are uncommon in the neonatal period per se and benign tumours may have malignant potential. A particular problem exists in clinical classification, as histological features of malignancy do not always correlate with clinical behaviour. Benign tumours may also be life threatening because of their size and location. Other tumours may demonstrate local invasiveness, but no metastatic potential, and tumours that are clearly malignant may demonstrate unpredictable or uncertain behaviour. Screening programmes have brought more tumours to light, but do not appear to affect the overall prognosis. They may provide clues to the stage at which tumours develop in foetu. The aetiology of cancer in children is multifactorial and includes both genetic and environmental factors. The association between congenital abnormalities and tumours is well established (15% of neonatal tumours). Genetic defects are highly likely in neonatal tumours and include those with a high risk of malignancy (e.g., retinoblastoma), but also genetically determined syndromes with an increased risk of malignancy and complex genetic rearrangements. Tumours are mostly genetically related at a cellular level and factors influencing cellular maturation or apoptosis within the developing foetus may continue to operate in the neonatal period. Cytogenetics of neonatal neoplasms appear to differ from neoplasms in older children, thus possibly explaining some of the observed differences in clinical behaviour. Certain constitutional chromosome anomalies, however, specifically favour tumuors occurring in the foetal and neonatal period. In support of this hypothesis, certain cytogenetic anomalies appear to be specific to neonates, and a number of examples are explored. Other environmental associations include ionizing radiation, drugs taken during pregnancy, infections, tumours in the mother and environmental exposure.     

Management of choroid plexus tumours in children: 20 years experience at a single neurosurgical centre

OBJECTIVE: Tumours of the choroid plexus are rare tumours of neuro-ectodermal origin, accounting for less than 1% of all intracranial tumours. Most cases present in children less than 2 years of age. While choroid plexus carcinomas (CPC) are reported to have an extremely poor prognosis, choroid plexus papillomas (CPP) are generally regarded as benign tumours with a very favourable long-term outcome. Management dilemmas are associated with the choice of surgical procedure, tumour vascularity, the treatment of hydrocephalus and the value of adjuvant therapy. The objective of this study was to review our experience with this rare tumour over a 20-year period. METHODS: Patients were identified from the Great Ormond Street Neurosurgical Brain Tumour Database. Over a 20-year period (1979-1999), 34 children were identified with a choroid plexus tumour. There were 25 cases of CPP and 9 cases of CPC. A retrospective review of case notes, radiological imaging, operation reports and pathology was performed. RESULTS: The median age at presentation was 17 months (1-138) for CPP and 13 months (2-102) for CPC. There was no sex difference for CPP. However, 8 of the 9 CPCs were male (89%). A complete surgical resection was achieved in all 25 cases of CPP and in 3 cases of CPC (33%). The median survival for CPPs was 75.5 months (2-228), with a median follow-up of 73.5 months (2-228). The median survival for CPCs was 6 months (1-90), with a median follow-up of 6 months (1-90). CONCLUSION: With modern neurosurgical practise, a cure should be the aim for all children with CPP. There is no evidence that adjuvant therapy has any role in the primary management of these children. However, CPC still has an extremely poor prognosis, and the efficacy of adjuvant therapy remains to be established.     

尤文肉瘤的诊断和治疗进展

尤文肉瘤是儿童常见的恶性骨肿瘤,发病时临床表现无特异性,早期易出现漏诊.目前的治疗方案包括放疗、手术治疗、化疗以及靶向治疗,其中化疗的出现使局部肿瘤的生存率达到70％,但难治及复发患者的预后不良.靶向治疗可针对肿瘤细胞的特异性位点杀死肿瘤细胞,有望提高复发及难治性肿瘤患者的生存率.该文就尤文肉瘤的诊断及治疗作一综述.