Search

Abstract  Primary and metastatic so-called malignant fibrous histiocytoma/undifferentiated high-grade pleomorphic sarcoma (MFH) is rare in the gastrointestinal (GI) tract with ≈50 primary and five metastatic cases reported so far. We evaluated two primary gastric and three metastatic intestinal high-grade pleomorphic sarcomas with features of storiform-pleomorphic MFH. Gastric tumours occurred in a 79-year-old man and a 68-year-old woman. One patient died post-operatively, and the other was disease-free at 6 months. Three patients presented with GI metastasis 24, 60 and 0 months after diagnosis of MFH of the heart (n = 1) and the thigh (n = 2). Metastases were located in the small (n = 1) and large bowel (n = 2) and were characteristically pedunculated and polypoid with oedematous haemorrhagic stroma. Concurrent metastases (brain, lung, bone) were present in all three cases. Tumours expressed α-smooth muscle actin (four of five), platelet-derived growth factor receptor (PDGFR) α (three of three) and PDGFRβ (two of three) but were negative for CD117, CD34 and other lineage-specific markers. Ultrastructural examination revealed myo/fibroblastic features. Both gastric MFH were wild type for KIT and PDGFRα. In conclusion, primary and metastatic MFH of the GI tract commonly express PDGFRα and show a myo/fibroblastic phenotype. They should be distinguished from a variety of primary and metastatic pleomorphic neoplasms, in particular high-grade sarcomatous GI stromal tumours (GIST), pleomorphic leiomyosarcoma, sarcomatoid carcinoma and other mimics. [ABSTRACT FROM AUTHOR]

Abstract Objective  Systemic mitochondriopathies as chronic progressive external ophthalmoplegia (CPEO) are frequently associated with ptosis. We investigated whether mitochondrial abnormalities in the levator muscle are also found in patients with isolated congenital or acquired ptosis showing no other signs of mitochondrial cytopathy. Methods  Biopsies of levator muscle were taken during surgery from 24 patients with isolated congenital (group 1) or early-onset acquired ptosis (group 2). All patients were given a thorough clinical examination before and after surgery. Ultrathin muscle sections were examined by transmission electron microscopy. The findings were compared with biopsies from five patients with CPEO (positive control) and two patients with traumatic ptosis or pseudoptosis (negative control). Results  The mean levator function equalled 7.3 mm (range 4–10 mm) in group 1 and 12.8 mm (range 9–15 mm) in group 2. Eight out of 11 patients in group 1 and eight out of 13 patients in group 2 were found to have mitochondrial alterations such as megamitochondria, mitochondrial matrix alterations and abnormal cristae, similar to CPEO. Within group 1 and 2, no significant clinical differences were found between patients with and without mitochondrial abnormalities. Conclusion  Mitochondrial alterations were found in a surprisingly large proportion of levator biopsies from patients with isolated congenital or early-onset acquired ptosis. There was no statistically significant correlation between mitochondrial alterations and levator function. Our findings suggest that the ultrastructural assessment of mitochondria in the eyelid muscle is a valuable tool, and may guide further biochemical and mutation screening tests that will help to understand the etiopathology of this disease. [ABSTRACT FROM AUTHOR]