Primitive myxoid mesenchymal tumor of infancy: a clinicopathologic report of 6 cases.
ABSTRACT Soft 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.
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Article: Tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue: new entities and new variants of old entities recorded during the last 25 years. Part XII: Appendix Lesioni tumorali, quasitumorali e pseudotumorali delle parti molli somatiche e superficiali: entità nuove e varianti di entità già note, descritte negli ultimi 25 anni. Parte XII: Appendix
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ABSTRACT: We report, to our knowledge, the first case of a congenital, widespread, aggressive high-grade sarcoma, presented as multiple skin nodules and respiratory distress in a neonate that had a t(9;22)(q22;q11-12) cytogenetic abnormality suggestive of a more indolent extraskeletal myxoid chondrosarcoma (EMC). EMC is generally thought of as a slow-growing tumor that presents between the fourth and sixth decades of life. Our patient was a 45,XY, t(13;14) newborn who presented at birth with subcutaneous nodules involving the face, scalp, back and extremities, as well as multiple intrathoracic, intraabdominal and intracranial masses. Diagnosis was made using electron microscopy and immunohistochemical and cytogenetic studies. Despite attempts to control rapid growth of lesions using high-dose steroids and cis-retinoic acid, patient's clinical status continued to deteriorate and life support was withdrawn at the 26 day of life.Journal of Perinatology 03/2008; 28(2):160-2. DOI:10.1038/sj.jp.7211890 · 2.35 Impact Factor
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ABSTRACT: Malignant peripheral nerve sheath tumors are rare tumors, especially in the newborn period. Diagnosis is based on clinical findings, radiography, and fine needle biopsy or tissue sampling. Ideal management is controversial and extremely difficult. The survival rate is extremely low. We present a case of a newborn in which this tumor is diagnosed in the first few days of life as an ulcerating tumor imbedded in the entire forefoot with already metastatic spread to the lymph nodes and abdomen. Questions arose on the best treatment in postpartum life. Below the knee amputation was performed for nursing purposes, but eventually a no-intention-to treat policy was chosen by the multidisciplinary team and parents. Detection of soft tissue tumors in the prenatal period is difficult and not as easy as for other structural defects. Would prenatal detection have changed the course of life of this young infant? Will future opportunities for detection of soft tissue tumors occur? Diagnostic and therapeutic considerations are discussed alongside the present literature.Journal of Pediatric Hematology/Oncology 01/2009; 30(12):891-5. DOI:10.1097/MPH.0b013e31818b3572 · 0.96 Impact Factor