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Ultrasonographic findings and diagnosis of omental dedifferentiated liposarcoma: a case report.

ABSTRACT: Liposarcoma is one of the most common types of soft tissue sarcomas and can develop at any site, although omental liposarcoma is extremely rare. Omental liposarcoma has a poor prognosis because the diagnosis is difficult, until it presents as a large tumor causing severe noticeable clinical symptoms. A 51-year-old male with lower abdominal pain was referred to our clinic. Abdominal ultrasonography revealed an ill-defined, solid, heterogeneous, and hypoechoic tumor deep in the lower abdomen. Generally, liposarcomas are hyperechoic, though 20% of liposarcomas present as hypoechoic tumors. This variation might occur depending on the pathological classification. We should consider the possibility of a dedifferentiated component if ultrasonography reveals typical features of soft tissue sarcoma with hypoechoic lesion.

SUBMITTER: Miwa T

PROVIDER: S-EPMC7110100 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Ultrasonographic findings and diagnosis of omental dedifferentiated liposarcoma: a case report.

Miwa Takao T Otsuji Kentaro K Aiba Masashi M Kochi Takahiro T Toda Katsuhisa K Nakamura Noriaki N Katsumura Naoki N Miyazaki Tatsuhiko T Shimizu Masahito M

Journal of rural medicine : JRM 20200401 2

Liposarcoma is one of the most common types of soft tissue sarcomas and can develop at any site, although omental liposarcoma is extremely rare. Omental liposarcoma has a poor prognosis because the diagnosis is difficult, until it presents as a large tumor causing severe noticeable clinical symptoms. A 51-year-old male with lower abdominal pain was referred to our clinic. Abdominal ultrasonography revealed an ill-defined, solid, heterogeneous, and hypoechoic tumor deep in the lower abdomen. Gene ...[more]

PMID: 32269642

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Recurrent intrathoracic dedifferentiated liposarcoma: A case report and literature review.

Project description:BackgroundLiposarcoma (LPS) is the second most common type of soft tissue sarcoma, accounting for approximately 15-20% of all the sarcomas. Primary intrathoracic LPS, however, is quite rare. LPS is a malignant mesenchymal tumor, comprised of lipogenic tissue with varying degrees of atypia. It can be subclassified into well-differentiated LPS (WDLPS), myxoid LPS (MLPS)/round cell LPS, pleomorphic LPS (PLPs), and dedifferentiated LPS (DDLPS), based on the histology.Case presentationA 76-year-old male patient initially presented to the emergency room with a complaint of precordial chest pain for one month. Computed tomography (CT) of his chest showed a large, 8 cm × 8 cm x 10 cm, supradiaphragmatic, complex solid mass in the lower left hemithorax, along the anterior chest wall. Chest wall mass excision revealed dedifferentiated LPS, with excision of margins. Positron emission tomography (PET) scan did not show metastatic disease. Seven months later, he presented with shortness of breath, and CT of the chest showed large, left pleural-based masses, causing compression of surrounding structures. He was not a candidate for surgical resection. This patient subsequently failed chemotherapy and opted for hospice.ConclusionIntrathoracic LPS is a rare tumor. Recurrence is higher with dedifferentiated histology forms. Radical surgery with excision of margins is the primary recommended treatment.

| S-EPMC6389794 | biostudies-literature

Dedifferentiated liposarcoma of the left kidney: A rare case report.

Project description: Not available

| S-EPMC6104588 | biostudies-literature

Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation.

Project description:Liposarcomas originating in the urinary bladder are extremely rare. Only six cases of bladder liposarcoma have been reported, and all have been described as myxoid liposarcomas. Notably, none of the patients underwent molecular testing. Here, we report a dedifferentiated liposarcoma (DDL) that occurred in the urinary bladder, primarily in a 69-year-old Chinese woman, with infrequent low-grade dedifferentiation. Computed tomography (CT) revealed an ill-defined solid mass in the anterior bladder wall. The patient underwent a partial bladder resection. Histologically, the tumor cells with mild-to-moderate nuclear atypia were arranged in fascicular and storiform patterns, mimicking a low-grade fibroblastic tumor. In addition, scattered small foci of typical lipoma-like well-differentiated components were identified. Immunohistochemically, the tumor tested positivity for MDM2, CDK4, and p16. Fluorescence in situ hybridization revealed MDM2 gene amplification in the neoplastic cells. Whole-exome sequencing showed that this tumor also harbored CDK4, TSPAN31, and JUN amplification. At the latest follow-up (85 months after surgery), the patient was alive, with no evidence of disease. To the best of our knowledge, this is the first example of a molecularly confirmed primary bladder liposarcoma and the first case of DDL at this site.

| S-EPMC10597670 | biostudies-literature

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

Project description:BACKGROUND:Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. CASE PRESENTATION:We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. CONCLUSIONS:We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.

| S-EPMC6950918 | biostudies-literature

Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report.

Project description:BACKGROUND:Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15-20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. However, genetic alteration profiles of DDLPS as well as the role of NF1 mutations have not been studied extensively. CASE PRESENTATION:The current study reports a patient presenting with rapidly growing DDLPS accompanied by multiple lung and pleural metastases, in whom whole-exome sequencing revealed a NF1 truncating mutation of the known pathogenic variant, c.C7486T, p.R2496X, as well as multiple copy number alterations (CNAs), including the well-known 12q13-15 amplification, and multiple chromothripsis events encompassing potential cancer-related genes. CONCLUSIONS:Our results suggest that, in addition to the 12q13-15 amplification, NF1 inactivation mutation and other CNAs may contribute to DDLPS tumorigenesis accompanied by aggressive clinical features.

| S-EPMC7552537 | biostudies-literature

Dedifferentiated Liposarcoma in the Spermatic Cord Finally Diagnosed at 7th Resection of Recurrence: A Case Report and Bibliographic Consideration.

Project description:Liposarcoma in the spermatic cord is infrequent, and accurate diagnosis of histopathological subtype is often difficult in spite of the importance of differential diagnosis for adequate treatment. A 54-year-old man underwent left-sided high orchiectomy with inguinal lymphadenectomy for a spermatic cord tumor in July 2006. The initial histopathological report diagnosed leiomyosarcoma in the spermatic cord. He then underwent surgeries for repeated recurrences a further 6 times between July 2008 and May 2014. Pathological finding at the 7th resection of the recurrent tumor was osteosarcoma, which was uncommon in the spermatic cord. With a thorough overview of all specimens, the histopathological diagnosis was finally confirmed as dedifferentiated liposarcoma because of a biphasic pattern in the specimen of high orchiectomy at the first resection. A biphasic pattern represents high-grade sarcoma like osteosarcoma and well-differentiated liposarcoma, and is characteristic of dedifferentiated liposarcoma. Although the dedifferentiated type is one of poor prognosis, the diagnosing of liposarcoma histopathologically was found to be difficult throughout this case. In this report we discuss the accurate histopathological diagnosis of liposarcoma in the spermatic cord in order to prevent repeated recurrences based on a review of the literature, as well as the difficulty in recognizing dedifferentiated liposarcoma macroscopically and morphologically. Our experience suggests that, after much difficulty, accurate histopathological diagnosis of liposarcoma in the spermatic cord is still clinically challenging.

| S-EPMC5582524 | biostudies-literature

Scattered genomic amplification in dedifferentiated liposarcoma.

Project description:BackgroundAtypical lipomatous tumor (ALT), well differentiated liposarcoma (WDLS) and dedifferentiated liposarcoma (DDLS) are cytogenetically characterized by near-diploid karyotypes with no or few other aberrations than supernumerary ring or giant marker chromosomes, although DDLS tend to have somewhat more complex rearrangements. In contrast, pleomorphic liposarcomas (PLS) have highly aberrant and heterogeneous karyotypes. The ring and giant marker chromosomes contain discontinuous amplicons, in particular including multiple copies of the target genes CDK4, HMGA2 and MDM2 from 12q, but often also sequences from other chromosomes.ResultsThe present study presents a DDLS with an atypical hypertriploid karyotype without any ring or giant marker chromosomes. SNP array analyses revealed amplification of almost the entire 5p and discontinuous amplicons of 12q including the classical target genes, in particular CDK4. In addition, amplicons from 1q, 3q, 7p, 9p, 11q and 20q, covering from 2 to 14 Mb, were present. FISH analyses showed that sequences from 5p and 12q were scattered, separately or together, over more than 10 chromosomes of varying size. At RNA sequencing, significantly elevated expression, compared to myxoid liposarcomas, was seen for TRIO and AMACR in 5p and of CDK4, HMGA2 and MDM2 in 12q.ConclusionsThe observed pattern of scattered amplification does not show the characteristics of chromothripsis, but is novel and differs from the well known cytogenetic manifestations of amplification, i.e., double minutes, homogeneously staining regions and ring chromosomes. Possible explanations for this unusual distribution of amplified sequences might be the mechanism of alternative lengthening of telomeres that is frequently active in DDLS and events associated with telomere crisis.

| S-EPMC5483303 | biostudies-literature

A Case of Cystic Retroperitoneal Dedifferentiated Liposarcoma Diagnosed by Percutaneous Image-Guided Biopsy.

Project description:IntroductionDedifferentiated liposarcoma (DDLP) was initially defined as a tumor containing differentiated liposarcoma and distinct regions of nonlipogenic spindle cell or pleomorphic sarcoma. Retroperitoneal liposarcomas feature a characteristic appearance with a predominantly fatty component, and cystic liposarcomas are rare. We describe a case of retroperitoneal DDLP predominantly consisting of multilocular cysts.Case presentationA 77-year-old man previously visited a doctor because an echo scan unexpectedly revealed an abdominal tumor. Contrast computed tomography (CT) disclosed a large multilocular cystic tumor spanning from the left upper abdomen to the retroperitoneum, and poorly marginated soft tissue structures were present around the abdominal aorta, inferior vena cava, pancreas, mesentery, and left kidney. CT also revealed a right lung mass. The soft tissue structures in the retroperitoneal cystic tumor and right lung mass were strongly enhanced on 2-deoxy-2-[fluorine-18] fluoro-d-glucose positron emission tomography, suggesting a malignant retroperitoneal tumor and lung metastasis. CT-guided percutaneous biopsy targeting the left perirenal soft tissue structure was performed, and the tumor was diagnosed as DDLP. Lung metastasis was present, and the retroperitoneal tumor surrounded multiple organs. Therefore, the tumor was not suitable for surgical resection but it was indicated for chemotherapy based on multidisciplinary discussion.ConclusionWe experienced a case of retroperitoneal cystic DDLP diagnosed by percutaneous image-guided biopsy and treated appropriately based on the pathological diagnosis.

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Adipogenesis induces growth inhibition of dedifferentiated liposarcoma.

Project description:Well-differentiated liposarcoma (WDLPS) and dedifferentiated liposarcoma (DDLPS) are the most common types of liposarcoma. Although WDLPS and DDLPS patients receive intensive treatment including radical surgery and systemic therapy, their overall 5-year survival rates are 90% and 30%, respectively, indicating that DDLPS is clinically more aggressive. We examined whether adipogenic stimulation induces adipogenesis in human WDLPS/DDLPS cells by using dexamethasone, indomethacin, insulin, and 3-isobutyl-1-methylxanthine (IBMX), all putative medications or drugs. Functional in vitro experiments showed that treatment with these four compounds induced adipogenic potency by transcriptional and translational upregulation of genes related to the maintenance of stemness and adipogenic differentiation. Using in vivo xenograft models, we found that the induction of stemness and adipogenesis inhibited the tumorigenic potency of DDLPS. This study suggests a potential application of drug repositioning in which adipogenesis-inducing compounds could be used to treat DDLPS patients in a clinical setting.

| S-EPMC6676121 | biostudies-literature

Integrated exome and RNA sequencing of dedifferentiated liposarcoma.

Project description:The genomic characteristics of dedifferentiated liposarcoma (DDLPS) that are associated with clinical features remain to be identified. Here, we conduct integrated whole exome and RNA sequencing analysis in 115 DDLPS tumors and perform comparative genomic analysis of well-differentiated and dedifferentiated components from eight DDLPS samples. Several somatic copy-number alterations (SCNAs), including the gain of 12q15, are identified as frequent genomic alterations. CTDSP1/2-DNM3OS fusion genes are identified in a subset of DDLPS tumors. Based on the association of SCNAs with clinical features, the DDLPS tumors are clustered into three groups. This clustering can predict the clinical outcome independently. The comparative analysis between well-differentiated and dedifferentiated components identify two categories of genomic alterations: shared alterations, associated with tumorigenesis, and dedifferentiated-specific alterations, associated with malignant transformation. This large-scale genomic analysis reveals the mechanisms underlying the development and progression of DDLPS and provides insights that could contribute to the refinement of DDLPS management.

| S-EPMC6908635 | biostudies-literature

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