Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The tumor described here as lipofibromatosis is a rare pediatric neoplasm that has been variously interpreted as a type of infantile or juvenile fibromatosis, a variant of fibrous hamartoma of infancy, and a fibrosing lipoblastoma. This report details the clinicopathologic features associated with 45 cases of this soft tissue entity. The study group consisted of 32 males, 12 females, and one person of unstated gender. The patients presented with a soft tissue mass (range, 1-7 cm) involving the hand (n = 18), arm (n = 8), leg (n = 7), foot (n = 6), trunk (n = 5), or head (n = 1). Eight tumors were evident at birth. The individuals ranged in age from 11 days to 12 years (median age, 1 yr) at the time of initial biopsy or resection. Microscopic examination revealed abundant adipose tissue with a spindled fibroblastic element that chiefly involved the septa of fat and skeletal muscle. The process generally did not cause extensive architectural effacement of fat as is common with conventional fibromatoses, and it did not have a primitive nodular fibromyxoid component as is characteristic of fibrous hamartoma of infancy. The fibroblastic element exhibited focal fascicular growth and typically had limited mitotic activity (< or = 1 mitosis/ 10 high-power fields) and cytologic atypia. Oftentimes, small collections of univacuolated cells were present at the interface between some of the fibroblastic fascicles and the mature adipocytes. The tumors entrapped vessels (n = 45), nerves (n = 44), skin adnexa (n = 16), and skeletal muscle (n = 18). Focal immunoreactivity was present in some tumors for CD99, CD34, alpha-smooth muscle actin, BCL-2, and less frequently, S-100 protein, muscle actin (HUC 1-1), and EMA. However, no reactivity was detected for desmin (D33 and D-ER- 1 clones), keratins, or CD57. Follow-up data were available for 25 individuals (median follow-up period, 6 yrs 7 mos) with regrowth of the tumor or persistent disease documented in 17 (72%). The following events were more common in the group with recurrent or persistent disease: congenital onset, male sex, hand and foot location, incomplete excision, and mitotic activity in the fibroblastic element. Although it is likely this tumor comprises part of the spectrum of what has been referred to in the literature as infantile/juvenile fibromatosis, its clinicopathologic features and, in particular, its distinctive tendency to contain fat as an integral component, warrant separate classification as a "lipofibromatosis."
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PMID:A clinicopathologic study of 45 pediatric soft tissue tumors with an admixture of adipose tissue and fibroblastic elements, and a proposal for classification as lipofibromatosis. 1107 50

Metanephric stromal tumor (MST) is a rare pediatric neoplasm unique to the kidneys that is currently included in the spectrum of metanephric tumors, along with metanephric adenoma and adenofibroma. We herein report an unusual case of pediatric renal stromal tumor overlapping with MST and solitary fibrous tumor (SFT). Histologically, the tumor was composed of bland-looking spindle to stellate cells embedded in a fibro-sclerotic stroma that focally surrounded native entrapped renal tubules or blood vessels with abortive rings or collarettes. Alternating hypercellular and hypocellular areas and a focal hemangiopericytomatous-like vascular pattern imparted to the tumor a resemblance to SFT. Angiodysplasia of intratumoral arterioles was also observed, but juxtaglomerular cell hyperplasia was not a feature. Immunohistochemically, the neoplastic cells showed a polyphenotypic profile, including diffuse expression of vimentin and CD34, and focal immunoreactivity for alpha-smooth muscle actin, EMA, and CD99. However, the most striking finding was diffuse nuclear and cytoplasmic expression of S-100 protein. Although this protein has been reported to stain the heterologous glial and/or cartilaginous components that can be occasionally encountered in MST, this marker has not been previously reported in the fibroblastic component of MST. Pathologist should be aware of similar unusual unclassified tumors to avoid potential confusion with other benign or malignant S-100 protein-positive tumors.
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PMID:Unclassified pediatric renal stromal tumor overlapping with metanephric stromal tumor and solitary fibrous tumor with diffuse S-100 protein expression. 2192 99