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Soft tissue tumors of uncertain origin.
No full textMany soft tissue tumors of childhood lack obvious differentiation toward a defined mesenchymal tissue type or have a phenotype that does not correspond to any defined normal tissue. These challenging tumors are currently regarded as neoplasms of uncertain differentiation. Nonetheless, there have been great strides in the understanding of their pathologic and genetic features and biologic underpinnings. The application of new genetic information to the pathologic diagnosis among this group of tumors is an emerging area in diagnostic pediatric pathology. This article reviews the clinicopathologic features of tumors of uncertain and/or miscellaneous origin, with an emphasis on the unique aspects of these neoplasms in children and adolescents, use of diagnostic adjuncts, and differential diagnosis
Fibroblastic and myofibroblastic tumors in children and adolescents.
No full textFibroblastic and myofibroblastic tumors in children and adolescents are a relatively common group of soft tissue proliferations that range from reactive to hamartomatous to neoplastic, with a full spectrum of benign, intermediate, and malignant neoplasms. These lesions are diagnostically challenging because of morphologic and immunohistochemical overlap, despite significant clinical, genetic, and prognostic differences. The fibromatoses are a major subgroup, and all types of fibromatoses can occur in the 1st 2 decades of life. Intermediate and malignant fibroblastic-myofibroblastic tumors are an important group that includes variants of fibrosarcoma and other tumors with recurrent cytogenetic or molecular genetic abnormalities and low metastatic potential. Pathologic examination is enhanced by adjunct techniques, such as immunohistochemistry, cytogenetics, and molecular genetics, although morphology provides the ultimate criteria for a specific diagnosis. This article reviews the clinicopathologic features of fibroblastic and myofibroblastic tumors with an emphasis on the unique aspects of these neoplasms in children and adolescents, the use of diagnostic adjuncts, and differential diagnoses
Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis
No full textInfantile myofibromatosis (IM) is a distinctive mesenchymal disorder with different clinical forms, including solitary, multicentric, and generalized with visceral involvement. A wide morphologic spectrum is encountered, with the extremes resembling congenital infantile fibrosarcoma (CIFS) and infantile hemangiopericytoma. We report a series of lesions with mixed features of CIFS and IM and compare them in order to further define their clinicopathologic features and the significance of the so-called composite fibromatosis. Seven lesions with unusual overlapping morphologic "composite" features of both IM and CIFS were selected from a series of 106 myofibroblastic lesions. Three cases classified as composite infantile myofibromatoses (COIM) were highly cellular tumors with a diffuse growth of primitive mesenchymal cells and focal features of IM combined with areas resembling infantile fibrosarcoma (IF). Four cases were classified as IF. Three of these exhibited a biphasic pattern with foci resembling IM, including whorls of primitive and spindle cells and perivascular and intravascular projections of myofibroblastic nodules, and the 4th had a close histologic resemblance to a primitive, immature IM. With reverse transcriptase polymerase chain reaction, the ETV6-NTRK3 transcript was absent in 3 COIM and was detected in 3 CIFS; the other CIFS had typical cytogenetic aberrations. On the basis of currently available information, COIM represents a morphologic variant of IM that can mimic IF. Careful histologic evaluation to detect the typical features of IM is essential to avoid classification as IF. Molecular analysis for the ETV6-NTRK3 gene fusion is an important diagnostic tool in this group of lesions
Primitive myxoid mesenchymal tumor of infancy - A clinicopathologic report of 6 cases
No full textSoft tissue sarcomas in the first year of life are rare, and the most common sarcomas in infancy are embryonal rhabdomyosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, congenital infantile fibrosarcoma, and primitive sarcomas such as undifferentiated sarcoma. In this study, we report 6 cases of a primitive myxoid mesenchymal tumor of infancy (PMMTI), which previously may have been included under the diagnostic categories of congenital-infantile fibrosarcoma or infantile fibromatosis. PMMTI occurred in 6 infants, 3 of whom had a congenital presentation of a soft tissue mass. All patients were otherwise healthy. The tumors occurred on the trunk, extremities, and head and neck. Grossly, the tumors were nonencapsulated and had a multinodular appearance with focal infiltrative growth, a white fleshy cut surface, and a tumor diameter ranging from 2 to 15 cm. Histologically, a diffuse growth of primitive spindle, polygonal, and round cells occurred in a myxoid background. The tumor cells were arranged in a vaguely nodular pattern with peripheral collagenized stroma, higher cellularity at the periphery, and a delicate vascular network in the background. Immunohistochemically, the tumors displayed diffuse reactivity for vimentin and no reactivity for smooth muscle actin, muscle specific actin, desmin, S-100 protein, or myogenin. Electron microscopy documented a poorly differentiated fibroblastic proliferation. Four cases tested negative for the ETV6-NTRK3 gene fusion by RT-PCR. One tumor had a complex karyotypic abnormality with rearrangements involving chromosomes Y, 9, and 3. Three patients had recurrences or metastasis treated with a combination of surgery and chemotherapy. One patient is alive with persistent locally aggressive disease, 2 are alive with no evidence of recurrence, 1 had a recurrence treated surgically without further follow-up information, 1 patient died with persistent tumor and sepsis 6 weeks after diagnosis, and 1 patient was lost to follow-up. The morphologic appearance combined with the ultrastructural features and absence of the typical gene rearrangement of congenital-infantile fibrosarcoma are unique, and we propose that PMMTI represents a new category of pediatric fibroblastic-myofibroblastic tumor
Undifferentiated sarcoma: does it exist? A clinicopathologic study of 7 pediatric cases and review of literature.
No full textUndifferentiated sarcomas are primitive mesenchymal tumors that cannot be classified among standardized histopathologic entities. Whether they represent a homogeneous group with common histogenesis and clinical behavior or comprise a variety of tumors able to differentiate along specific maturative lineages is still debated. To identify prognostic and histogenetic markers, we analyzed 7 undifferentiated sarcomas (4 in the trunk and 3 in the extremities). Mean patient age was 7.5 years, and mean follow-up was 18 months. Two clinicopathologic subtypes emerged from this study. Four primitive mesenchymal undifferentiated sarcomas arose mainly on the trunk and very proximal extremities, had an aggressive clinical course with poor outcome (3 deaths from disease, 1 with persistent disease), and displayed sheets of oval cells, with bland nuclei. Three spindle cell undifferentiated sarcomas arose on the extremities, had a favorable outcome, and showed elongated spindle cells with areas of primitive fibrosarcoma. All were negative for epithelial membrane antigen, cytokeratins, CD34, smooth muscle actin, desmin,Myf4, and HMB45 and showed nuclear staining for INI. Focal staining for S100 and CD99 was found in 3 and 4, respectively. Among stem cell markers, CD117 was positive in 3 cases (1 primitive, 2 spindle), nestin in 5 cases (4 primitive, 1 spindle), and CD105-stained tumor cells lining newly formed vascular spaces in 4 cases (1 primitive, 3 spindle). Survivin was weakly expressed in 6 cases and reflected low levels of mRNA (median survivin/GAPDH ratio, 1.096). Cytogenetic analysis revealed nonspecific translocations in 3 tumors. No translocations associated with Ewing sarcoma, synovial sarcoma, or alveolar rhabdomyosarcoma were found. In summary, primitive undifferentiated sarcomas occur in the trunk, behave aggressively, and express nestin. Spindle cell undifferentiated sarcomas occur in extremities, have a favorable outcome, resemble fibrosarcomas, and have similarly low survivin levels and display CD105-positive vascular spaces, which may represent an early hemangiopericytomatous patter
Some general considerations about the clinicopathologic aspects of soft tissue tumors in children and adolescents.
No full textSoft tissue tumors in children and adolescents are an important group of neoplasms, pseudoneoplasms, and tumefactive malformations with some distinctive clinicopathologic, genetic, syndromic, and therapeutic implications. In addition to the basic pathologic examination, there is the availability of diagnostic adjuncts in various settings based upon the histopathologic features that facilitate and/or corroborate a diagnosis. Immunohistochemistry, cytogenetics, molecular genetics, and an ever-increasing array of new technologies are available to address specific diagnostic questions and even potential therapeutic strategies. This review focuses upon some of the unique aspects of soft tissue tumors in children, including the classification, approach to the diagnosis, grading, clinical and pathologic staging, therapy-related changes, pathogenesis, and risk factors
Undifferentiated high-grade pleomorphic sarcomas in children: a clinicopathologic study of 10 cases and review of literature.
No full textUndifferentiated high-grade pleomorphic sarcoma (UHGPS) is a sarcoma of debated nosology affecting adults, with rare cases reported in children. In order to investigate the clinicopathologic and prognostic features of pediatric UHGPS, 10 cases of UHGPS occurring before 18 years (mean age, 8.9 years) were analyzed. All were localized at diagnosis (head, 4; lower extremities, 4; trunk, 2), with a mean diameter of 4.5 cm. Mean follow-up was 6 years. Six patients were in complete remission, 1 after a relapse; 2 died of metastatic disease; 1 was alive with metastasis. Histologically, 8 tumors showed spindle cells with a focal or diffuse storiform pattern; 2 tumors had scattered aggregates of epithelioid cells. Two tumors displayed a prominent epithelioid component. Cellular pleomorphism, high mitotic rate with atypical mitoses, were found in all tumors; necrosis in 6 and vascular invasion in 2. CD68 and desmin were positive in 2 cases each, smooth muscle actin in 4, and S100 in 1. Five tumors in 1st and 1 in 2nd complete remission were superficial; 1 showed a spindle cell morphology with epithelioid foci, 3 had necrosis; 5 were grade 3; and 1 was grade 2. Three metastatic tumors (2 in the dura, 1 in the leg) displayed either a prominent epithelioid morphology (2) or scattered aggregates of epithelioid cells (1), with a myxoid background in 1. All were grade 3 and showed foci of necrosis. In summary, UHGPS is rare in children and frequently located in the head. A more favorable outcome is associated with superficial location. Foci of epithelioid cell may portend an aggressive behavio
Myxoinflammatory fibroblastic sarcoma: report of a case and review of the literature
No full textMyxoinflammatory fibroblastic sarcoma (MIFS) is a lowgrade
sarcoma generally arising in adults. We present a
case of MIFS in a 5-year-old boy with a palpable nodule
in the subcutaneous tissue of the scalp. We carried out a
literature review to evaluate the diagnostic patterns based
on histologic and cytologic features and possible pitfalls
and misdiagnoses. A systematic search for articles of
interest published between 1995 and 2011 was performed
in MEDLINE and PubMed using the words ‘‘myxoinflammatory
fibroblastic sarcoma,’’ ‘‘myxohyaline tumor,’’
and ‘‘inflammatory myxoid tumor.’’ Histology
and cytology have a pivotal role in the differential
diagnosis between MIFS and other potential soft-tissue
mimics, such as nodular and proliferative fasciitis and
inflammatory myofibroblastic tumor. Fine-needle aspiration
cytology is a safe and useful tool for the diagnosis of
pediatric patients with MIFS and is important for an
accurate and precise preoperative workup to optimize
subsequent management and treatment
Liposarcomas in young patients: a study of 82 cases occurring in patients younger than 22 years of age.
No full textLiposarcomas typically occur in middle aged to older adults. Altogether, approximately 50 bona fide liposarcomas have been reported in children and adolescents, most of which have represented myxoid liposarcomas, with a good prognosis. We undertook a retrospective study of 82 liposarcomas occurring in patients below 22 years of age. Clinicopathologic and follow-up information was obtained. Fluorescence in situ hybridization for FUS, EWSR1, CHOP (DDIT3), and MDM2 was performed in 30 cases. The tumors occurred in 28 males and 54 females (5 to 22 y of age) and involved many locations. Fifty-six cases were typical myxoid liposarcomas, including 2 with round cell areas. The tumors were grade 1 (56 cases) and grade 3 (2 cases). Thirty-seven of 38 patients with follow-up are alive without disease and 1 is alive with disease (median 59 mo follow-up duration, range: 8 to 108 mo). Six cases showed myxoid liposarcoma with spindled growth ("spindle cell myxoid liposarcoma"); these arose in 5 females and 1 male (median age 14 y) and involved the thigh in 40% of cases. All were grade 1. Follow-up (4 of 6 patients) showed local recurrences in 2 cases and metastases in 1 case. Twelve tumors consisted of conventional myxoid liposarcoma and pleomorphic liposarcoma ("pleomorphic myxoid liposarcoma"); these arose in 4 males and 8 females (10 to 22 y of age) and often involved the mediastinum. Tumor grades were 2 (4 cases) and 3 (8 cases). Follow-up (10 patients) showed 7 dead of disease, 1 alive with disease, and 2 disease free. Four atypical lipomatous tumors were seen including 2 with low-grade dedifferentiation. Two local recurrences were seen; all patients are disease free. Two conventional pleomorphic liposarcomas were seen; 1 patient with follow-up is disease free. FUS-CHOP and EWSR1-CHOP rearrangements were identified by fluorescence in situ hybridization in 15/23 and 2/23 conventional myxoid liposarcomas, respectively, and in no other tumors. Amplification for MDM2 was absent in all cases. We conclude that conventional myxoid liposarcoma is by far the most common subtype of liposarcoma in young patients, with an excellent prognosis. Two apparently novel subtypes of liposarcoma, termed pleomorphic myxoid liposarcoma and spindle cell myxoid liposarcoma comprise considerable percentages of liposarcomas in this age group and should be distinguished from conventional myxoid liposarcoma and conventional pleomorphic liposarcoma. Pleomorphic myxoid liposarcoma and spindle cell myxoid liposarcoma most likely represent high-grade and low-grade variants of myxoid liposarcoma, respectively. Additional study of such cases will be necessary for definitive classification
Myxo-inflammatory Fibroblastic Tumor - Report of a Case and Review of the Literature.
No full textMyxoinflammatory fibroblastic sarcoma (MIFS) is a low-grade sarcoma generally arising in adults. We present a case of MIFS in a 5-year-old boy with a palpable nodule in the subcutaneous tissue of the scalp. We carried out a literature review to evaluate the diagnostic patterns based on histologic and cytologic features and possible pitfalls and misdiagnoses. A systematic search for articles of interest published between 1995 and 2011 was performed in MEDLINE and PubMed using the words "myxoinflammatory fibroblastic sarcoma," "myxohyaline tumor," and "inflammatory myxoid tumor." Histology and cytology have a pivotal role in the differential diagnosis between MIFS and other potential soft-tissue mimics, such as nodular and proliferative fasciitis and inflammatory myofibroblastic tumor. Fine-needle aspiration cytology is a safe and useful tool for the diagnosis of pediatric patients with MIFS and is important for an accurate and precise preoperative workup to optimize subsequent management and treatmen
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