Malignant thymoma associated with liposarcoma of the mediastinum —A case report—

Malignant thymoma occurring concurrently with mediastinal liposarcoma in a 49-year-old man is described. The patient underwent an incomplete resection of the mediastinal mass followed by irradiation therapy and additional chemotherapy. He died about 9 months after the detection of a mediastinal mass on chest X-ray films and the immediate cause of death was superior vena cava syndrome. The incidence of primary liposarcoma of the mediastinum alone is extremely rare. Only a few more than 20 with such a lesion have been docummented in Japan. A review of the literature of patients with mediastinal liposacoma and thymoma associated with malignancies revealed no case of an association of thymoma and liposacoma.     

十二指肠原发性去分化脂肪肉瘤1例

患者男,79岁,外院腹部CT发现十二指肠病变1周;既往有胃溃疡病史。查体未见明显异常。腹部CT:十二指肠降段管壁增厚、管腔狭窄,增强后局部明显不均匀强化,内见条状稍高密度影,部分层面紧邻胰头(图1A、1B)。MRI:十二指肠降段管壁明显不均匀增厚达2.3 cm,肠腔狭窄,T1WI呈稍低信号,T2WI为稍高信号,扩散加权成像(b=800 s/mm 2)呈高信号;增强后管壁不均匀明显强化,周围脂肪间隙尚清晰,部分层面与邻近胰头分界欠清(图1C)。     

Genotype–phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan

Introduction: We investigated possible genotype–phenotype correlations in Japanese patients with familial amyotrophic lateral sclerosis (FALS) carrying fused in sarcoma/translated in liposarcoma (FUS/TLS) gene mutations. Methods: A consecutive series of 111 Japanese FALS pedigrees were screened for copper/zinc superoxide dismutase 1 (SOD1) and FUS/TLS gene mutations. Clinical data, including onset age, onset site, disease duration, and extramotor symptoms, were collected. Results: Nine different FUS/TLS mutations were found in 12 pedigrees. Most of the patients with FUS/TLS‐linked FALS demonstrated early onset in the brainstem/upper cervical region, and relatively short disease duration. A few mutations exhibited phenotypes that were distinct from typical cases. Frontotemporal dementia was present in 1 patient. Conclusions: This study revealed a characteristic phenotype in FUS/TLS‐linked FALS patients in Japan. FUS/TLS screening is recommended in patients with FALS with this phenotype. Muscle Nerve 54 : 398–404, 2016     

Rhabdomyomatous well-differentiated liposarcoma arising in giant fibrovascular polyp of the esophagus

We report an example of an esophageal giant fibrovascular polyp harboring a well-differentiated liposarcoma with rhabdomyomatous differentiation in a 68 year-old man. Initial imaging studies including fiberoptic endoscopy and 2 computed tomographic examinations, and laparoscopic myotomy failed to demonstrate the polypoid intraluminal nature of the lesion. Thus, alternative diagnoses including a malignant neoplasm and achalasia were entertained. A third computed tomography with contrast showed a pedunculated mass. Surgical resection revealed a 15-cm smooth-surfaced club-shaped mass composed of a well-differentiated liposarcoma demonstrating myoglobin, muscle-specific actin, and myogenin-positive rhabdomyomatous differentiation. To date, no previously reported giant fibrovascular polyp case has described a liposarcoma with rhabdomyomatous change.     

Liposarcoma of the head and neck: The University of Texas M. D. Anderson Cancer Center experience

Background.

Our aim was to review our experience with liposarcoma of the head and neck region.

Methods.

This is a retrospective case series at a comprehensive cancer center (1945–2005).

Results.

Of 30 patients, 10 (33%) were initially misdiagnosed. Local recurrences were common (overall rate = 53%), and 4 patients (13%) developed distant metastases. Decreased crude disease‐specific survival rates were significantly associated with recurrence (especially distant recurrence [0%]), age less than 38 years (40%), and pleomorphic subtype (45%); however, in Kaplan‐Meier analyses, only larger tumor size, negative margins, round cell subtype, and pleomorphic subtype were associated with significantly decreased disease‐specific survival (log‐rank test p = .048, .041, .021, and .012, respectively).

Conclusions.

Based on this limited experience and existing literature, we continue to recommend surgery with negative margins as the treatment of choice and that adjuvant therapies should be considered in patients with high‐grade histology, large tumors, positive margins, or certain subsites. © 2008 Wiley Periodicals, Inc. Head Neck, 2009     

Spinal metastases from myxoid liposarcoma warrant screening with magnetic resonance imaging

BACKGROUND: Myxoid liposarcoma (MLS) has an unusual tendency for extrapulmonary metastasis, particularly to the spine and soft tissues. The objective of this study was to determine the prevalence of spinal metastasis, treatment outcomes, and optimal screening method for spinal metastasis in patients with MLS. METHODS: Data from patients with had spinal metastases were obtained from the authors' institutional soft tissue sarcoma database. The accuracy with which positron emission tomography (PET) scans and bone scans identified metastatic lesions was compared with the accuracy of magnetic resonance imaging (MRI). Clinical response to treatment was based on pain, neurologic scores, and survivorship analysis. RESULTS: There were 33 patients who developed spinal metastasis after a median 36 months of follow-up (range, from 7.5 months to 33 years). Known spinal metastases were detected by bone scans in 16% of patients and by PET scans in 14% of patients. Patients who underwent surgery had high-grade spinal cord compression more often than patients who did not undergo surgery (72% vs 19%, respectively; P = .002). Pain and neurologic function were improved or maintained in all patients who received radiation alone (n = 8 patients) and in all but 1 patient who underwent surgery (n = 18 patients). The median overall survival was 51.4 months from the time of primary diagnosis and 21.9 months from the time of first metastasis. CONCLUSIONS: Bone scans and PET scan lack sufficient sensitivity to detect spinal metastasis from MLS. Treatment of metastasis is palliative, but local treatment can yield long-term disease control in select patients. Screening with whole-spine MRI may lead to the earlier detection of spinal metastasis.     

Gains and complex rearrangements of the 12q13‐15 chromosomal region in ordinary lipomas: The “missing link” between lipomas and liposarcomas?

Well-differentiated liposarcomas (WDLPS) classically contain high-level amplification of 12q14-15 sequences, including the MDM2 and CDK4 genes, while lipomas are characterized by simple structural chromosome aberrations often involving HMGA2 at 12q15. Previous studies have shown that low-level gain of the 12q14-15 region, such as trisomy 12 and 12q15-24 duplication, might be sufficient for the development of minimal atypia and formation of WDLPS. Moreover, because some features, such as overexpression of HMGA2, are shared by both lipomas and WDLPS, it has been hypothesized that lipomas and WDLPS may form a genetic and morphological continuum. We report here the results of molecular cytogenetic analysis of 8 lipomas that had unusual chromosomal features resulting in gains of 12q14-15. While 3 cases had simple numerical rearrangements (trisomy 12) or structural rearrangements (unbalanced translocations with 12q gains), 5 cases were particularly intriguing because of peculiar features such as giant chromosomes, supernumerary chromosomes or neocentromeres that usually are the hallmark of WDLPS. Gain of 12q14-15 sequences including extra copies of MDM2 and CDK4 were detected by fluorescence in situ hybridization analysis in all analyzed cases but no expression of MDM2 and CDK4 was observed suggesting that these genomic imbalances had no functional consequence. We observed rearrangements of HMGA2 in 5 out 8 cases. Altogether, our results indicate that moderate gains of 12q are not always associated with a malignant phenotype, and that some intermediary forms exist between classical lipomas and classical WDLPS. Some of these intermediary forms may correspond to a genomic premalignant condition while some may have no malignant potential.