Cases reported "Neoplasms, Adipose Tissue"

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1/4. Adenomyolipoma of the uterus: a case report.

    Adenomyolipoma of the uterus is a rare, benign, polypoid lesion considered to be of hamartomatous origin or represent an unusual type of benign Mullerian mixed tumour with a heterologous element. The authors present a case of uterine adenomyolipoma and discuss its pathogenesis. A 62-year-old woman complained of lower abdominal pain and postmenopausal bleeding. Imaging techniques revealed a solid ovarian mass and a polypoid intrauterine lesion. The frozen section diagnosis of the ovarian mass was a thecoma. A total hysterectomy and bilateral salpingo-oophorectomy were performed. On gross examination a pedunculated, polypoid lesion of 7x4.5x3cm was found in the uterine cavity. Microscopically, the polypoid lesion contained both epithelial and mesenchymal elements. The epithelial elements were endometrial glands of various size, formed by proliferative endometrial cells. The mesenchymal elements were composed of endometrial stroma, smooth muscle and mature adipocytes. Both the epithelial and the mesenchymal elements showed a benign appearance, were intermingled with each other and periglandular stromal condensation was absent. The lesion had an irregular surface. Microscopic diagnosis was an adenomyolipoma. The peculiar shape and microscopic features of this lesion suggested that it was a variant of benign Mullerian mixed tumour.
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2/4. Laparoscopic resection of a large periadrenal nonmalignant pheochromocytoma.

    This is, to our knowledge, the first case description of an extraadrenal pheochromocytoma located in the periadrenal fat. pheochromocytoma is a tumor that originates in the chromaffin tissue. Extraadrenal pheochromocytomas have been described commonly in locations such as the organ of Zuckerkandle (29%); the bladder (12%); the sacrum, testis, rectum, and pelvic floor (2%); the upper abdomen in association with celiac, superior mesenteric, and inferior mesenteric ganglia (43%); the thorax (12%); and the neck (2%), most commonly in association with the ninth or tenth cranial nerve ganglion. Our patient was a 40-year-old woman known to have had an adrenal mass for the last 4 years. She was referred for surgery because of an increase in the size of the mass to 11 cm. Laparoscopic adrenalectomy was performed via a posterior flank approach. The pathology report was of periadrenal fat pheochromocytoma, with positive staining for synaptophysin, chromogranin, and vimentin. The patient was discharged on postoperative day 3. The unique feature in this case was the uncommon location of the extraadrenal tumor: the supraadrenal fat. The other unique finding in this case was that the pheochromocytoma was neither symptomatic nor malignant, common features of extraadrenal masses.
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3/4. lipoblastoma in a 23-year-old male: distinction from atypical lipomatous tumor using cytogenetic and fluorescence in-situ hybridization analysis.

    lipoblastoma is a rare benign tumor that occurs primarily in infancy and early childhood. We present the rare presentation of a 12 cm sized intramuscular lipoblastoma of the thigh in a 23-year-old patient. On histology, the tumor strongly resembled an atypical lipomatous tumor due to the presence of lipoblasts and atypical stromal nuclei. The very focal lobulation and myxoid change presented the only histological hint towards a lipoblastoma. Cytogenetic and subsequent FISH evaluation of the tumor cells showed a 46,XY, t(8;15) (q12;q25) as chromosomal change with rearrangement of the PLAG1 gene. The present case indicates that lipoblastoma should enter the differential diagnosis of an 'atypical' deep seated fatty tumor in adults. The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well.
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4/4. ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypia.

    Atypical lipomatous tumors (ALTs) are characterized by supernumerary ring chromosomes and/or giant marker chromosomes, which typically are composed of interspersed, amplified 12q-sequences, are C-band negative, lack alpha-satellite sequences, and display high copy numbers of several oncogenes, including HMGA2 (a.k.a. HMGIC) and MDM2, from the 12q13-15 region. In the present study, we report the cytogenetic and molecular genetic findings in an ALT with minimal nuclear atypia from a 16-year-old boy. At G-banding analysis, 1-3 supernumerary ring chromosomes were detected. Combined binary ratio labeling fluorescence in situ hybridization (COBRA-FISH) showed that the rings were entirely composed of material from chromosome 12, and by further FISH analysis with locus-specific probes it was revealed that they consisted of two tandemly arranged copies of the segment 12p11.2-p13.2 to 12q21.2-q23.1. Within that segment of chromosome 12, there was a small deletion including the HMGA2 locus. There was no variation in ring size and no interphase bridges could be detected, indicating that the ring chromosomes were mitotically relatively stable. The present case thus adds support to the concept that there exists a subset of ALT with limited or minimal nuclear atypia and low-level amplification of 12q sequences, further suggesting the possibility of a molecular genetic continuum between lipoma and classical examples of ALT. Furthermore, the present data strongly imply that it is the composition of the rings rather than the ring chromosome formation as such that causes the genetic instability and nuclear atypia frequently seen in ALTs.
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