Soft Tissue Tumors In Children Research Articles

Pediatric soft-tissue tumors.

Soft-tissue tumors in children (<18 years) are a heterogeneous group of lesions. Masses may be asymptomatic or associated with pain or discomfort. Although most lesions are benign, developing an appropriate differential diagnosis requires knowledge of the clinical and radiographic characteristics of tumors and tumorlike conditions in children. A thorough history and physical examination, followed by appropriate imaging studies, when indicated, can establish a correct diagnosis and help determine appropriate treatment recommendations.

Extracranial fasciitis in childhood: a sheep in wolf’s clothing

Soft tissue tumours in children are rare, and the differentiation between pseudosarcomatous tumours and sarcomas is difficult. Rapidly-enlarging masses within the head and neck region in infants require rapid diagnosis and prompt definitive treatment to lessen psychological burden on the parents and the surgical team. We present a case of a 17-month-old girl who had a large, rapidly-enlarging soft tissue mass within the maxilla which was excised. The diagnosis of childhood extracranial fasciitis was confirmed histopathologically. We emphasise the importance of conservative excision once the diagnosis has been confirmed.

Magnetic resonance imaging of soft-tissue tumors in children.

Magnetic resonance imaging (MRI) has become an important diagnostic tool in the detection and characterization and local anatomic staging of soft-tissue tumors in children. This article outlines some of the procedural issues unique to the pediatric population.

Imaging of Peripheral PNET: Common and Uncommon Locations

AIM: We present the imaging features of peripheral primitive neuroectodermal tumour (PNET) in eight children, highlighting the unusual locations of this tumour in three children. MATERIALS AND METHODS: At presentation, the tumours were studied with magnetic resonance imaging (MRI; n=6), computed tomography (CT;n=7) and ultrasound (US;n=1). The diagnoses were confirmed histologically (n=8), immunohistochemically (n=8), by cytogenetics (n=3) and electron microscopy (n=1). Correlation with gross pathology, histology, treatment and outcome were obtained. RESULTS: The tumours were located in the chest wall (n=2), shoulder, pelvis, small bowel mesentery, adrenal gland, dura mater and skin and subcutaneous tissue of the abdominal wall (n=1 each). Peripheral PNET arising from the small bowel mesentery, adrenal gland and dura mater have not been previously reported in the English literature. The tumours were mainly large (mean size: 10·6cm) and infiltrative. All tumours were heterogeneously hyperintense on T2-weighted MRI, heterogeneously iso/hypodense on CT and had variable contrast enhancement. Most tumours were heterogeneously hypointense to muscle on T1-weighted MRI. US showed a hypoechoic mass with a cystic component. CONCLUSION: Peripheral PNET can occur in unusual locations. The clinical and imaging features of peripheral PNET are non-specific, making tissue diagnosis essential. PNET should be included in the differential diagnosis of aggressive soft tissue tumours in children. Khong, P. L. et al. (2002). Clinical Radiology57, 272–277.

Primitive Neuroectodermal Tumors of the Biliary and Gastrointestinal Tracts: Clinicopathologic and Molecular Diagnostic Study of Two Cases

Primitive neuroectodermal tumor (PNET) is a prototypic malignant small round cell tumor of childhood that is characterized in most cases by t(11;22) resulting in an EWS-FLI1 gene fusion. Once thought to be uncommon, PNET now accounts for almost 20% of malignant soft tissue tumors in children. Increased recognition of PNET is partly due to advances in immunohistochemistry and molecular diagnostics, which have led to the identification of the tumor in non-classical sites. We report the clinical, histologic, immunohistochemical, and molecular findings of two visceral PNETs of the digestive system--one involving the small intestine and the other involving the hepatic duct. Histologically, each tumor was composed of malignant small cells growing in sheets, nests, and lobules; the tumor cells of both cases showed characteristic immunoreactivity for vimentin and O13 (CD99). Reverse transcription-polymerase chain reaction (RT-PCR) analysis for t(11;22) using nested primers was performed with RNA extracted from paraffin-embedded, formalin-fixed tissue and demonstrated an EWS exon 7 to FLI1 exon 5 fusion in both cases, confirmed by Southern blot hybridization and DNA sequence analysis. These results illustrate the expanded clinicopathologic profile of PNET, and demonstrate that visceral PNETs, despite their unusual sites of presentation, maintain the characteristic immunohistochemical and genetic features of PNETs at more conventional sites.

MAGE, BAGE andGAGE gene expression in human rhabdomyosarcomas

MAGE, BAGE and GAGE genes encode tumor-associated antigens that are presented by HLA class I molecules and recognized by CD8(+) cytolytic T lymphocytes. These antigens are currently regarded as promising targets for active, specific tumor immunotherapy because MAGE, BAGE and GAGE genes are expressed in many human cancers of different histotype and are silent in normal tissues, with the exception of spermatogonia and placental cells. MAGE, BAGE and GAGE gene expression has been extensively studied in different tumors of adults but is largely unknown in many forms of pediatric solid cancer. Using RT-PCR, we analyzed MAGE-1, MAGE-2, MAGE-3, MAGE-4, MAGE-6, BAGE, GAGE-1,-2 or -8 and GAGE-3,-4,-5,-6 or -7b gene expression in 31 samples of pediatric rhabdomyosarcoma, the most frequent form of malignant soft tissue tumor in children. MAGE genes were expressed in a substantial proportion of patients (MAGE-1, 38%; MAGE-2, 51%; MAGE-3, 35%; MAGE-4, 22%; MAGE-6, 35%), while expression of BAGE (6%); GAGE-1, GAGE-2 and GAGE-8 (9%); and GAGE-3, GAGE-4, GAGE-5, GAGE-6 and GAGE-7B (16%) was less frequent. Overall, 58% of tumors expressed at least 1 gene, and 35% expressed 3 or more genes simultaneously. Our data suggest that a subset of rhabdomyosarcoma patients could be eligible for active, specific immunotherapy directed against MAGE, BAGE and GAGE antigens.

Ewing's sarcoma/primitive neuroectodermal tumor of the ureter: A case report and review of the literature

Extraosseous Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) is a rare soft tissue tumor of childhood usually found in the extremities. The authors present the case of a 17-year-old girl who presented with right flank pain and hematuria and during operation was found to have a right ureteral mass. The histopathologic, immunohistochemical, ultrastructural, and cytogenetic characteristics of the excised mass were consistent with extraosseous ES/PNET. This is the first known reported case of extraosseous ES/PNET of the ureter. The pathologic features and clinical management of this case, as well as a review of the literature, are presented. J Pediatr Surg 35:1356-1358. Copyright © 2000 by W.B. Saunders Company.

Trisomy 8 in Embryonal Rhabdomyosarcoma Detected by Fluorescence In Situ Hybridization

Embryonal rhabdomyosarcoma is the most common malignant soft-tissue tumor in childhood. Cytogenetic studies of this tumor are rare. In one study trisomy 8 was found to be a primary cytogenetic abnormality. In view of the findings of trisomy 8 in a multitude of cancers, we conducted a pilot study to test the hypothesis that a subset of rhabdomyosarcoma also exists with trisomy 8. Accordingly, archival tissues of 12 cases of rhabdomyosarcoma were retrieved and fluorescence in situ hybridization (FISH) using a chromosome 8-specific, α-satellite probe was undertaken on formalin-fixed paraffin-embedded tissue sections using the protocol optimized in the Cytogenetics Laboratory at Rhode Island Hospital. The results obtained demonstrated that 6 of 12 tumors showed chromosome 8 trisomy, when a 15% threshold is adopted. In addition, one case was borderline, with 11% of the cells found positive for three fluorescent signals. Future experiments utilizing additional specimens from our centers as well as from other laboratories are needed to confirm and extend the findings of the present study.

Arthur Purdy Stout (1885-1967), a pioneer of surgical pathology: a survey of his Notes on the Education of an "Oncological" Surgical Pathologist.

Arthur Purdy Stout (1885-1967) started his medical career as a surgical intern and house surgeon at institutions that were to join the Columbia-Presbyterian Medical Center. With virtualy no formal training in pathology and little supervision, he was given the opportunity to work in a laboratory of surgical pathology. He focused his attention on neoplasms and tumor-like conditions, and authored Human Cancer in 1932. This book was organized according to topography of lesions and set a model for the Atlas of Tumor Pathology project. In addition to his many articles and slide seminars, Stout embarked during his "postretirement" years, with the help of residents and fellows, on a systematic study of soft tissue tumors in children. In 1950, he also began his Notes on the Education of an "Oncological" Surgical Pathologist. This manuscript of 427 typewritten pages offers candid details on his development as a surgical pathologist from rather primitive and chaotic beginnings, and on the post-World War II rise of surgical pathology. Notes provides interesting glimpses of his rapidly changing world, particularly of New York, the College of Physicians and Surgeons of Columbia University, and other pathologists. It also portrays an individual absorbed by his work and intent on leaving behind the legacy of a pioneer in the field of surgical pathology.

Fluorescent in situ Hybridization Detection of HER-2/neu Gene Amplification in Rhabdomyosarcoma

Embryonal rhabdomyosarcoma is the most common malignant soft-tissue tumor in childhood, comprising 45–50% of childhood sarcomas. Cytogenetic studies of this tumor are rare. In view of the paucity of cytogenetic data on this cancer and based on the finding of HER-2/neu gene amplification in a number of cancers that was detected mostly using the traditional technique of immunohistochemistry, we decided to conduct a pilot study to investigate whether HER-2/neu gene amplification in this tumor can be detected using the newer technique of fluorescent in situ hybridization (FISH). Archival tissues of rhabdomyosarcoma were retrieved and FISH using an HER-2/neu probe was undertaken on formalin-fixed paraffin-embedded tissue sections using a protocol optimized for our laboratory at Rhode Island Hospital. Out of 9 cases of rhabdomyosarcoma studied to date, 1 case clearly showed HER-2/neu gene amplification. Thus, FISH is a sensitive technique suitable for the detection of oncogene amplification and the delineation of tumor heterogeneity in this tumor. Future experiments utilizing additional specimens from our centers as well as from other laboratories will be needed to extend the finding in the present pilot study.

Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis.

Rhabdomyosarcoma (RMS) is the most important malignant soft tissue tumor of childhood (Enzinger and Weiss 1988). Following the first detailed description of an RMS of the skeletal muscles by Stout (1946), this entity was subdivided by histologic criteria into embryonal (Stobbe and Dargeon 1950), alveolar (Riopelle and Theriault 1956), botryoid (Horn et al. 1955), and pleomorphic variants (Horn and Enterline 1958). Later it could be shown that the botryoid RMS is a subtype of embryonal RMS. In clinical studies, it has been demonstrated that the distinction of these subtypes of RMS has an influence on prognosis in children (NEWTON et al. 1988). However, this classification of RMS into four subtypes does not relate to prognosis in all patients. Subsequently, the “solid alveolar RMS” was excluded from embryonal RMS (Tsokos et al. 1984). This tumor type has the cytology of typical alveolar RMS but does not form the regressive alveolar spaces. Prognosis is similar to that of typical alveolar RMS (see chapter by D. Harms, this volume). Recently two independent studies were published concerning a subtype of embryonal RMS which is exclusively composed of spindle cells (Cavazzana et al. 1992; Leuschner et al. 1993).KeywordsSpindle CellEmbryonal RhabdomyosarcomaPloidy AnalysisAlveolar RhabdomyosarcomaConventional HistologyThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Fibroblastic-Myofibroblastic Tumors in Children and Adolescents: A Clinicopathologic Study of 108 Examples in 103 Patients

A review of over 900 soft tissue tumors in children and adolescents revealed 108 fibroblastic-myofibroblastic tumors in 103 patients from newborn to 20 years of age, which had been accessioned in a 25-year period. Based on clinicopathologic criteria, 82 (76%) were regarded as benign, 14 (13%) as borderline, and 12 (11%) as malignant. The average age at diagnosis for the entire series was 7 years with a male/female ratio of 1.8:1. The most frequent topographic site was the extremities (48, 44%), followed by the trunk (31, 29%) and the head and neck region (27, 25%). Virtually 50% (51 tumors) of cases were diagnosed during the first year of life, and 73 (71%) occurred in the first decade. The known recurrence rate was 16% (17 cases). Fibromatosis of various subtypes accounted for 95% of the histologically benign group. Infantile myofibromatosis was the most frequent form of fibromatosis, followed by aggressive (desmoid) fibromatosis (20 cases, 19%). Ninety percent of infantile myofibromatoses were diagnosed in the first year of life. In contrast, 70% of aggressive fibromatoses occurred in the second decade. Associated conditions included familial desmoid fibromatosis, Gardner syndrome, and previous surgery. The borderline category was represented by the 14 (13% of the series) congenital-infantile fibrosarcomas. All of the 14 (13%) malignant tumors were classic adult-type fibrosarcomas that occurred only in later childhood and adolescence. Fibromatosis colli, fibrous hamartoma of infancy, juvenile nasopharyngeal angiofibroma, Dupuytren-type fibromatosis, infantile digital fibromatosis, juvenile aponeurotic fibroma, unclassified fibromatoses, and fibroma of tendon or nerve sheath constituted the remaining cases.

Prenatal detection of non‐cardiac rhabdomyosarcoma

The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non-cardiac rhabdomyosarcoma detected prenatally.

Soft Tissue Tumors in First Year of Life: A Report of 190 Cases

A comprehensive review of soft tissue tumors in children and adolescents disclosed the presence of 190 neoplasms in 183 patients, which were diagnosed in infants between birth and 12 months of age; these infants represented approximately 20% of our entire pediatric soft tissue tumor series. In excess of 75% of cases were pathologically benign with the hemangioendothelioma, lymphangioma, and fibromatosis-myofibromatosis constituting the majority of cases in this category. Fibrous histiocytoma and lipoblastoma were the other two benign entities. Congenital-infantile fibrosarcoma was considered a borderline tumor because of its infrequently manifested potential for metastasis; none of the 13 cases in the present study behaved in a malignant fashion. Embryonal rhabdomyosarcoma and peripheral primitive neuroectodermal tumor were the two principal types (17 of 27 cases) of malignant soft tissue tumors. In contrast to soft tissue tumors in the first two decades, those in the first year of life were more often benign despite their cellularity and presence of mitotic activity. Fibroblastic-myofibroblastic tumors were more frequent in this young age group, whereas neurogenic and myogenic tumors were relatively more common in children older than 1 year of age. The trunk and head and neck region were the preferred topographic sites rather than the extremities, which was the case in children beyond the first year of life.

Use of anti-skeletal muscle antibody from myasthenic patients in the diagnosis of childhood rhabdomyosarcomas.

Rhabdomyosarcoma (RMS), a common soft tissue tumor in children, may often be difficult to distinguish from Ewing's sarcoma, neuroblastoma, and malignant lymphomas. Confirmation of the skeletal muscle origin of RMS depends partly on the demonstration of striations in tumor cells that are usually undetectable in poorly differentiated tumors. A number of tissue markers (e.g., myoglobin and desmin) are currently being used to establish the origin of RMS. However, most of these markers lack specificity and have relatively low sensitivity. We have investigated the specificity and sensitivity of anti-skeletal muscle antibody (ASMA) from patients with myasthenia gravis in the diagnosis of childhood RMS. Out of eight cases of childhood RMS (four embryonal and four alveolar) examined, two showed striations with hematoxylin and eosin and four with phosphotungstic acid hematoxylin. Myoglobin was detected in five tumors; only well-differentiated tumor cells contained myoglobin. Anti-desmin antibody and ASMA reacted with cells in all the eight tumors whether or not the tumor cells were well differentiated. Anti-skeletal muscle antibody did not react with nine lymphomas, four Ewing's sarcomas, four neuroblastomas, four osteogenic sarcomas, four lipomas, eight duct carcinomas of the breast, and eight squamous cell carcinomas of the lung. Eight leiomyomas and four leiomyosarcomas of the uterus were compared for their reactivity with anti-desmin antibody and ASMA. All the tumors stained with anti-desmin antibody and none with ASMA. The results show that ASMA is useful in the diagnosis of childhood RMS and is a more sensitive reagent than anti-myoglobin antibody. Unlike anti-desmin antibody, it can distinguish skeletal muscle tumors from smooth muscle tumors.

Another Family With the Li-Fraumeni Cancer Syndrome

<h3>To the Editor.—</h3> Four of the original families with soft-tissue tumors in children and other cancers in close relatives, especially breast cancer in young women, have recently been brought up to date by Li and Fraumeni (1982;247:2692). In 31 surviving family members, ten experienced 16 additional cancers between 1969 and 1980. We observed a family with a variation on this theme that features brain tumors (Figure). Among four children in a sibship, two experienced double-primary malignant tumors: embryonal rhabdomyosarcoma of the right paranasal region at 22 months old and osteogenic sarcoma of the midmandible (outside of the radiation field) at 14 years of age occurred in one child, and in the other child, acute lymphocytic leukemia at 17 years of age was followed two months later by the diagnosis of high-grade chondrosarcoma of the ilium. Their mother died of metastatic carcinoma of the left breast diagnosed at age 26 years.

Advances in the Treatment of Bone and Soft Tissue Tumors in Children

Advances in the Treatment of Bone and Soft Tissue Tumors in Children

Proceedings: Surgery of bladder and prostatic neoplasms in children.

Rhabdomyosarcoma is the common malignant soft tissue tumor of childhood. Twelve of 67 cases recently reviewed from this institution arose in the bladder or prostate (6 are surviving). Until recently and regardless of the primary site, the reports of successful treatment of this aggressive embryonal neoplasm have been limited to very small series or to isolated cases managed by radical mutilative surgery. Now, combined therapy, as has proven so effective in Wilms' tumor, and utilizing “reasonable surgery” (excision of all gross tumor), tolerable x-ray therapy (Cobalt 60 2-4000 R according to age in 3–4 weeks), and repeated courses of Actinomycin D and Vincristine (9-week cycles for at least a year), is recommended. At Ohio State University the curability rate in all types of rhabdomyosarcoma including all bladder and prostatic lesions has improved spectacularly from 14% prior to 1967 to 71% (corrected survival by life table method) in the last 38 cases treated.

Rhabdomyosarcoma in children: Improved outlook with a multidisciplinary approach

Rhabdomyosarcoma has received increasing recognition as a major soft tissue tumor in children. In 1946 Stout [I] collected 121 cases, twenty-five of which involved children. In 1950 Stobbe and Dargeon [2] drew attention to embryonal rhabdomyosarcoma of the head and neck in children. More recently, Sutow et al [3] suggested that rhabdomyosarcoma occurs at least as frequently as neuroblastoma and Wilms’ tumor. Mahour et al [4] noted that it was the most common sarcoma of the somatic soft tissues in children, whereas Enzinger and Shiraki [5] indicated that alveolar and embryonal rhabdomyosarcomas were the two most frequent soft tissue tumors affecting patients less than twenty years of age. Sixtyone patients with rhabdomyosarcoma were treated at the Children’s Cancer Research Foundation in Boston, Massachusetts from 1947, when the Foundation was established, to 1969. This number represents 2 per cent of the 3,304 patients with various forms of cancer and 5 per cent of the 1,301 patients with malignant solid tumors seen during this period.

GRANULAR CELL MYOBLASTOMA IN CHILDHOOD

The granular cell myoblastoma is a rare tumor of childhood with only 10 cases previously reported. The occurrence of the tumor in the vulva of a 6-year-old child is presented. No authentic case of this tumor in its malignant form has been recorded in childhood. The granular cell myoblastoma should be considered in the differential diagnosis of soft tissue tumors in children and offers an excellent prognosis.