Prenatal ultrasound diagnosis of infantile myofibromatosis--a case report. (1/14)

Infantile myofibromatosis, the most common soft tissue tumor of infancy, was diagnosed at 30 weeks of gestation. The tumor presented on ultrasound as a large mass measuring 42 mm x 75 mm x 35 mm located on the fetal back. The ultrasound diagnosis was further validated by MRI. Termination of pregnancy was carried out, and a multicentric visceral type of the tumor was diagnosed at autopsy.  (+info)

Infantile myofibromatosis. (2/14)

Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytomatous pattern. A male infant with multiple lesions involving the subcutaneous tissue and bone from birth is described and followed-up for two years. Treatment of IMF is dependent on the location of the tumour/s with surgery or chemotherapy reserved for rapidly progressive or symptomatic disease. However, due to the low rate of recurrence and the possibility of spontaneous tumoral regression, therapeutic abstention, as practised in our patient, is justified.  (+info)

Solitary infantile myofibromatosis: report of two cases. (3/14)

Infantile myofibromatosis (IM) is an unusual tumor of infancy and early childhood. It typically presents as a solitary or multicentric nodular mass involving skin, soft tissue, bone, or viscera. We describe 2 cases of solitary infantile myofibromatosis (IM) of the soft tissue with typical light microscopic features. The first is a 7-month-old boy who had a rapidly growing tumor of the right thigh. The fragile tumor, measuring 7.0 x 6.0 x 3.5 cm was completely removed, but the patient was lost to follow-up after surgery. The second case, a 2-year-old boy, was referred from a local clinic due to a non-tender mass in the left abdominal wall. The tumor, measuring 2.0 x 2.0 x 1.6 cm, was completely excised. No recurrence or malignant transformation was found after 22 months of follow-up. The histopathologic, histochemical, and immunohistochemical features of the tumors were studied. Reticulin preparation showed that the tumor cells were outside the reticulin sheath of the vascular spaces and were individually enclosed by reticulin fibers. Tests for vimentin, anti-alpha-smooth muscle actin, and myoglobin were positive in the neoplastic spindle cells. IM has a variable appearance on radiologic images and often mimics an aggressive neoplasm. These factors can make a rapid and correct diagnosis difficult. IM must be considered in the differential diagnosis in any child who presents with either solitary or multiple tumors, particularly those occurring in the neonatal period.  (+info)

Expression of ALK1 and p80 in inflammatory myofibroblastic tumor and its mesenchymal mimics: a study of 135 cases. (4/14)

Abnormalities of chromosome 2p23 with expression of ALK1 and p80 occur in both inflammatory myofibroblastic tumor (IMT) and anaplastic large cell lymphoma. This immunohistochemical study investigates whether the ALK family of neoplasms includes fibroblastic-myofibroblastic, myogenic, and spindle cell tumors. Formalin-fixed paraffin-embedded archival tissues from 10 IMTs and 125 other soft tissue tumors were stained for ALK1 and p80 with standard immunohistochemistry. ALK1 and/or p80 reactivity was observed in a cytoplasmic pattern in IMT (4/10; 40%), malignant peripheral nerve sheath tumor (4/10; 40%), rhabdomyosarcoma (6/31; 19%), leiomyosarcoma (1/10; 10%), and malignant fibrous histiocytoma (1/11; 9%). No staining was observed in nodular fasciitis, desmoid, infantile myofibromatosis, infantile fibrosarcoma, synovial sarcoma, leiomyoma, or myofibrosarcoma. Alveolar rhabdomyosarcomas (4/16; 25%) displayed a distinctive dot-like cytoplasmic positivity. No cases displayed nuclear reactivity. Fluorescent in situ hybridization on 12 of the positive cases revealed a combination of abnormalities including ALK break-apart signals, nucleophosmin (NPM)/ALK fusions, or extra copies of 2p23. This study demonstrates that in addition to IMT, abnormalities of ALK1 and p80 expression with a variety of structural chromosomal changes are found in several sarcomas, especially rhabdomyosarcoma and malignant peripheral nerve sheath tumor. Although immunoreactivity in non-IMTs cannot distinguish between structural abnormalities involving 2p23 or additional copies of 2p23, it supports the concept of ALK involvement in a larger group of neoplasms, some of which have other documented clonal abnormalities. In IMT, immunohistochemistry for ALK1 and p80 is useful as an indicator of a 2p23 abnormality, but it must be interpreted in the context of histologic and other clinicopathologic data if used as an adjunct to differential diagnosis.  (+info)

Infantile myofibromatosis in a newborn: a case report. (5/14)

Infantile myofibromatosis presents as a firm, nodular mass in soft tissues, muscles, or visceras which can be solitary or multicentric, and it may regress spontaneously. We present a one-day-old boy who was admitted to the hospital for two masses, with one below the umbilicus that looked like a hemangiomatous structure and the other in the abdominal skin as a subcutaneous nodule. There was no intraabdominal involvement, and both of the masses were resected at 10 days of life. The one-year follow-up was uneventful.  (+info)

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. (6/14)

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.  (+info)

Giant recurrent infantile myofibromatosis of the leg in a 3 year-old. (7/14)

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Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis. (8/14)

We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding. Recommendations regarding microcatheter selection, diagnostic workup, and management of the ensuing complication are given.  (+info)

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