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Myxoid liposarcomas (MLSs) with extensive lipoma-like changes (MLSLC) are rare, and it is often difficult to distinguish them from well-differentiated liposarcoma (LS)/dedifferentiated LS (WDLS/DDLS) with myxoid changes. For the characterization of these neoplasms, we studied 8 MLSLCs, 11 ordinary MLSs, 4 WDLSs, and 6 DDLSs. Cytogenetically, MLSLC and ordinary MLS were characterized by t(12;16)(q13;p11) and FUS-DDIT3 fusion gene, whereas WDLS/DDLS lacked the fusion gene but possessed giant marker/ring chromosomes. Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). Immunohistochemically, MDM2 and CDK4 were positive in WDLS/DDLS but negative in MLSLC and ordinary MLS. PPARγ, C/EBPα, adipophilin, and perilipin were found in each type of LS. Adipophilin was expressed chiefly in tiny fat droplets of immature lipoblasts, whereas perilipin showed a strong positive staining in large fat vacuoles of signet ring and multivacuolated lipoblasts. The Ki-67 labeling index was lower in the lipoma-like component of MLSLC when compared with the myxoid component of the same tumors as well as ordinary MLS (p

Background It is often challenging to completely resect multinodular/plexiform schwannomas involving important deep nerves using minimally invasive surgically techniques. Case description A 32-year-old woman presented with a 5-year history of a slowly growing, painful mass in the medial aspect of the right ankle. Magnetic resonance imaging (MRI) demonstrated multiple nodular lesions with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences. Mild to moderate enhancement was identified after gadolinium administration. All 58 tumors were completely enucleated using an intracapsular technique. Histological examination confirmed the diagnosis of schwannoma consisting mainly of Antoni A areas. The burning sensation was relieved immediately after surgery. The patient had no aggravated neurological deficit and was very satisfied with the outcome of the treatment at final follow-up. Discussion and evaluation We experienced a very rare case of a large multinodular/plexiform schwannoma arising from the posterior tibial nerve and its larger terminal branch. Our case had the characteristic MRI features of this condition. It is extremely important to differentiate multinodular/plexiform schwannoma from plexiform neurofibroma and malignant peripheral nerve sheath tumor, with complete surgical enucleation being curative. Conclusions MRI is a clinically useful modality in the evaluation and detection of deep-seated multinodular/plexiform schwannoma. Intracapsular enucleation seems to be an acceptable treatment for this peculiar tumor located in the foot and ankle.

Introduction Myositis ossificans is a benign, self-limiting condition that usually affects young, athletically active men. To the best of our knowledge, this case report describes the oldest recorded patient with myositis ossificans. Case presentation Our patient was an 83-year-old Japanese woman who presented with a one week history of a palpable mass in the left thigh. She had a history of surgery for transverse colon cancer and lung cancer at the ages of 73 and 80, respectively. Clinical and radiological examinations suggested a malignant neoplasm such as metastatic carcinoma or extraskeletal osteosarcoma. A diagnosis of myositis ossificans was made by core needle biopsy. Our patient was asymptomatic and had no recurrence at one year follow-up. Conclusion Clinicians should consider myositis ossificans as a possible diagnosis for a soft tissue mass in the limb of an older patient, thereby avoiding unnecessarily aggressive therapy.

Background Pleomorphic malignant fibrous histiocytoma (MFH) is one of the most frequent malignant soft tissue tumors in adults. Despite the considerable amount of research on MFH cell lines, their characterization at a molecular cytogenetic level has not been extensively analyzed. Methods and results We established a new permanent human cell line, FU-MFH-2, from a metastatic pleomorphic MFH of a 72-year-old Japanese man, and applied multicolor fluorescence in situ hybridization (M-FISH), Urovysion™ FISH, and comparative genomic hybridization (CGH) for the characterization of chromosomal aberrations. FU-MFH-2 cells were spindle or polygonal in shape with oval nuclei, and were successfully maintained in vitro for over 80 passages. The histological features of heterotransplanted tumors in severe combined immunodeficiency mice were essentially the same as those of the original tumor. Cytogenetic and M-FISH analyses displayed a hypotriploid karyotype with numerous structural aberrations. Urovysion™ FISH revealed a homozygous deletion of the p16INK4A locus on chromosome band 9p21. CGH analysis showed a high-level amplification of 9q31-q34, gains of 1p12-p34.3, 2p21, 2q11.2-q21, 3p, 4p, 6q22-qter, 8p11.2, 8q11.2-q21.1, 9q21-qter, 11q13, 12q24, 15q21-qter, 16p13, 17, 20, and X, and losses of 1q43-qter, 4q32-qter, 5q14-q23, 7q32-qter, 8p21-pter, 8q23, 9p21-pter, 10p11.2-p13, and 10q11.2-q22. Conclusion The FU-MFH-2 cell line will be a particularly useful model for studying molecular pathogenesis of human pleomorphic MFH.

Background Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the α-subunit of the voltage-gated sodium channel Nav1.1. Disease modeling using patient-derived induced pluripotent stem cells (iPSCs) can be a powerful tool to reproduce this syndrome’s human pathology. However, no such effort has been reported to date. We here report a cellular model for DS that utilizes patient-derived iPSCs. Results We generated iPSCs from a Dravet syndrome patient with a c.4933C>T substitution in SCN1A, which is predicted to result in truncation in the fourth homologous domain of the protein (p.R1645*). Neurons derived from these iPSCs were primarily GABAergic (>50%), although glutamatergic neurons were observed as a minor population ( Conclusions Our results indicate a functional decline in Dravet neurons, especially in the GABAergic subtype, which supports previous findings in murine disease models, where loss-of-function in GABAergic inhibition appears to be a main driver in epileptogenesis. Our data indicate that patient-derived iPSCs may serve as a new and powerful research platform for genetic disorders, including the epilepsies.