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1.
Cureus ; 16(8): e67643, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39314568

RESUMEN

This case report presents the rare occurrence of a large dedifferentiated liposarcoma originating from the abdominal wall in a 57-year-old male. The patient's initial complaint was the gradual development of an abdominal mass over six months without associated urinary or digestive symptoms. Clinical examination revealed a firm, non-mobile mass in the left lumbar region, prompting further investigation. Imaging studies confirmed the presence of a sizable soft tissue mass with calcifications, suggestive of a sarcoma. Preoperative biopsy indicated a malignant mesenchymal tumor, leading to surgical intervention. Intraoperative findings revealed characteristics consistent with a low-grade malignancy, prompting complete tumor resection with flap reconstruction. Subsequent histopathological analysis confirmed the diagnosis of dedifferentiated liposarcoma with negative surgical margins. The patient was referred for palliative chemotherapy due to the aggressive nature of the tumor. This case underscores the diagnostic challenges and therapeutic considerations associated with rare abdominal wall liposarcomas, emphasizing the importance of a multidisciplinary approach in their management.

2.
Surg Case Rep ; 10(1): 199, 2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39297994

RESUMEN

BACKGROUND: While liposarcomas tend to mainly occur in the soft tissues of the extremities and retroperitoneum, esophageal liposarcoma is rare. Herein, we report a case of a patient who underwent complete resection of an esophageal dedifferentiated liposarcoma via the cervical approach, leading to the preservation of the esophagus. CASE PRESENTATION: A 69-year-old man underwent an upper gastrointestinal endoscopy, as a result of which a submucosal-like tumor was observed. Upper gastrointestinal imaging showed a 12-cm tumor with a stalk arising from the esophageal entrance, extending to the middle intrathoracic esophagus, with a normal surface mucosa. Endoscopic ultrasound-fine needle aspiration biopsy showed that the nuclei of tumors cells were positive for murine double minute (MDM) and weakly positive for cyclin-dependent kinase 4 (CDK4). We diagnosed the tumor as the esophageal dedifferentiated liposarcoma, and planed tumor resection via the cervical approach. The tumor was successfully resected and the postoperative course was uneventful. CONCLUSION: This case report highlights the use of tumor resection via the cervical approach as a good option for esophageal liposarcoma.

3.
Cureus ; 16(8): e66540, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39252749

RESUMEN

Primary liposarcoma of the lung is an exceedingly rare phenomenon, with fewer than ten cases reported in prior literature as of 2024. Rarer still, dedifferentiated liposarcoma of pulmonary origin is even less frequently reported, with only two cases having been described. Here, we detail the case of a 66-year-old female who presented with a large left-sided obstructing lung mass and underwent bronchoscopy with tumor cryoprobe debulking. Histological examination revealed a spindle cell sarcoma corresponding to a dedifferentiated liposarcoma with leiomyosarcomatous features as murine double minute 2 translocation was identified by fluorescence in situ hybridization and desmin by immunohistochemistry. The patient completed multiple radiotherapy sessions followed by pneumonectomy and a relatively uncomplicated postoperative course. As pulmonary liposarcoma tends to be poorly responsive to typical chemotherapy, standard management of pulmonary liposarcoma in the absence of metastases is surgical intervention to improve patient survival. Thus, we maintain that pulmonologists, oncologists, and radiologists should have a heightened awareness of this unique pathology in patients presenting with solitary lung mass.

4.
Cancers (Basel) ; 16(17)2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39272889

RESUMEN

BACKGROUND: mTORC1 activity is dependent on the presence of micronutrients, including Asparagine (Asn), to promote anabolic cell signaling in many cancers. We hypothesized that targeting Asn metabolism would inhibit tumor growth by reducing mTORC1 activity in well-differentiated (WD)/dedifferentiated (DD) liposarcoma (LPS). METHODS: Human tumor metabolomic analysis was utilized to compare abundance of Asn in WD vs. DD LPS. Gene set enrichment analysis (GSEA) compared relative expression among metabolic pathways upregulated in DD vs. WD LPS. Proliferation assays were performed for LPS cell lines and organoid models by using the combination treatment of electron transport chain (ETC) inhibitors with Asn-free media. 13C-Glucose-labeling metabolomics evaluated the effects of combination treatment on nucleotide synthesis. Murine xenograft models were used to assess the effects of ETC inhibition combined with PEGylated L-Asparaginase (PEG-Asnase) on tumor growth and mTORC1 signaling. RESULTS: Asn was enriched in DD LPS compared to WD LPS. GSEA indicated that mTORC1 signaling was upregulated in DD LPS. Within available LPS cell lines and organoid models, the combination of ETC inhibition with Asn-free media resulted in reduced cell proliferation. Combination treatment inhibited nucleotide synthesis and promoted cell cycle arrest. In vivo, the combination of ETC inhibition with PEG-Asnase restricted tumor growth. CONCLUSIONS: Asn enrichment and mTORC1 upregulation are important factors contributing to WD/DD LPS tumor progression. Effective targeting strategies require limiting access to extracellular Asn and inhibition of de novo synthesis mechanisms. The combination of PEG-Asnase with ETC inhibition is an effective therapy to restrict tumor growth in WD/DD LPS.

5.
Diagnostics (Basel) ; 14(15)2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39125555

RESUMEN

Dedifferentiated liposarcoma (DDLPS) is a non-lipogenic sarcoma, generally arising from well-differentiated liposarcoma (WDLPS), although it can develop de novo. DDLPS tumors rarely trans-differentiate into non-adipose mesenchymal tissues; however, the latter lack notable variety and mostly show striated muscle or osteogenic/chondrogenic differentiation. Here, we report a case of DDLPS that contained numerous atypical vessels. A man in his sixties presented with a large tumor in his right thigh, and the tumor was surgically resected. Microscopically, most of the tumor was WDLPS, but a minor portion showed DDLPS, consisting of high-grade spindle cells. Remarkably, the DDLPS contained vessels of various sizes with atypical cytoarchitecture, including vessels with seemingly muscular layers. Immunohistochemically, the atypical cells within the vascular wall expressed aSMA, consistent with smooth muscle cells or pericytes, whereas surrounding high-grade spindle cells only focally expressed it, and these aSMA-positive cells within the vessels exhibited MDM2 amplification by immuno-fluorescence in situ hybridization. Our results demonstrate that DDLPS can trans-differentiate into smooth muscle cells of various-sized accompanying vessels, which may support their survival and proliferation.

6.
Int Cancer Conf J ; 13(3): 301-305, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38962045

RESUMEN

Dedifferentiated liposarcoma is a rare cancer with a poor prognosis. A 52-year-old man presented with a chief complaint of a mass in his left scrotum. He came with suspected testicular tumor, but all the measured tumor markers were negative. Imaging test showed approximately 2 cm diameter mass accompanied by calcification with some substantial components between the testis and epididymis. Left high testicular resection was performed. The tumor had no continuity between the testis and epididymis, and the spermatic cord transection was negative. Pathological findings showed well differentiated fatty component and a dedifferentiated component around the trabecular bone-like tissue. We observed dedifferentiated dysmorphic cells mixed with fatty droplets of unequal size. Immunostaining led to the diagnosis of dedifferentiated liposarcoma. No additional postoperative therapy was performed. The possibility of dedifferentiated liposarcoma should be kept in mind even if mass is confined to the scrotum and consisted of calcification. In the case of an intrascrotal calcified mass with malignant perspective, radical surgery is highly recommended.

7.
Cureus ; 16(6): e62825, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39036280

RESUMEN

Liposarcoma is the most common soft tissue sarcoma type in adults, originating mainly from the retroperitoneum and lower extremities. Mediastinal liposarcomas constitute an extremely rare clinical entity of mesenchymal origin. Among subtypes, dedifferentiated liposarcoma is characterized by poor survival, but little is known about its biological behavior. We present the case of a 78-year-old male patient who presented with vague symptoms, predominantly dyspnea and chest pain. Imaging revealed a large mediastinal mass and surgical resection was performed in a piecemeal manner due to the inability to achieve a microscopically negative surgical margin (R0 resection) for the residual tumor. Histological examination confirmed the diagnosis of dedifferentiated liposarcoma. The patient's postoperative course was uneventful, with discharge from the hospital on the 10th postoperative day. However, local recurrence was detected after two months and the patient died four months after the operation. The present case report highlights the importance of radical excision for the prevention of local recurrence and the presentation of histological characteristics of this tumor. Radical surgical resection remains the fundamental treatment, while chemo and radiotherapy may have an adjuvant role. In cases of inability to obtain negative margins, surgical debulking can offer symptomatic relief.

8.
ESMO Open ; 9(7): 103487, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38943735

RESUMEN

BACKGROUND: Locally advanced (unresectable) or metastatic dedifferentiated liposarcoma (DDLPS) is a common presentation of liposarcoma. Despite established diagnostic and treatment guidelines for DDLPS, critical clinical gaps remain driven by diagnostic challenges, symptom burden and the lack of targeted, safe and effective treatments. The objective of this study was to gather expert opinions from Europe and the United States on the management, unmet needs and expectations for clinical trial design as well as the value of progression-free survival (PFS) in this disease. Other aims included raising awareness and educate key stakeholders across healthcare systems. MATERIALS AND METHODS: An international panel of 12 sarcoma key opinion leaders (KOLs) was recruited. The study consisted of two rounds of surveys with pre-defined statements. Experts scored each statement on a 9-point Likert scale. Consensus agreement was defined as ≥75% of experts scoring a statement with ≥7. Revised statements were discussed in a consensus meeting. RESULTS: Consensus was reached on 43 of 55 pre-defined statements across disease burden, treatment paradigm, unmet needs, value of PFS and its association with overall survival (OS), and cross-over trial design. Twelve statements were deprioritised or merged with other statements. There were no statements where experts disagreed. CONCLUSION: This study constitutes the first international Delphi panel on DDLPS. It aimed to explore KOL perception of the disease burden and unmet need in DDLPS, the value of PFS, and its potential translation to OS benefit, as well as the relevance of a cross-over trial design for DDLPS therapies. Results indicate an alignment across Europe and the United States regarding DDLPS management, unmet needs, and expectations for clinical trials. Raising awareness of critical clinical gaps in relation to DDLPS can contribute to improving patient outcomes and supporting the development of innovative treatments.


Asunto(s)
Consenso , Técnica Delphi , Liposarcoma , Supervivencia sin Progresión , Humanos , Liposarcoma/terapia , Liposarcoma/mortalidad , Liposarcoma/patología , Ensayos Clínicos como Asunto , Europa (Continente) , Proyectos de Investigación
9.
Pathol Res Pract ; 260: 155376, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38875758

RESUMEN

Lipogenic and fibrous tumors are thought to originate from CD34-positive stromal fibroblastic/fibrocystic cells. Well-differentiated lipogenic tumors typically express CD34, whereas dedifferentiated liposarcoma (DDLPS) often loses it. We conducted survival analyses involving 59 patients with DDLPS. Males comprised 53% of the cohort, and the median age at the time of wide resection of primary DDLPS was 60 years. Loss of CD34 expression was defined as when ≥50% of the dedifferentiated area was immunohistochemically negative for CD34. As a result, 39 of the 59 patients showed loss of CD34 expression during the initial operation for DDLPS. In the univariate analyses, the tumor site in the retroperitoneum/abdominal cavity and loss of CD34 expression were significantly associated with poor overall survival. In the multivariate analyses, loss of CD34 expression (HR = 2.26; 95% CI = 1.02-5.02; p = 0.04) and the tumor site in the retroperitoneum/abdominal cavity (HR = 3.11; 95% CI = 1.09-8.86; p = 0.03) were retained as independent prognostic factors. Six CD34-positive cases lost CD34 expression when they developed metastasis and/or local recurrence, suggesting that the loss was associated with the later stage of the tumor. Therefore, an association existed between the loss of CD34 expression and clinicopathological behaviors such as poorer prognoses and recurrence.


Asunto(s)
Antígenos CD34 , Biomarcadores de Tumor , Liposarcoma , Humanos , Masculino , Liposarcoma/patología , Liposarcoma/metabolismo , Persona de Mediana Edad , Femenino , Antígenos CD34/metabolismo , Anciano , Adulto , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Pronóstico , Anciano de 80 o más Años , Inmunohistoquímica , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/metabolismo , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/metabolismo
10.
Cancer Manag Res ; 16: 455-463, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38774493

RESUMEN

Objective: The study aimed to investigate the significantly different imaging characteristics of musculoskeletal dedifferentiated liposarcoma (DDLP) and well differentiated liposarcoma (WDLP) on MRI, which in turn could guide puncture biopsy. Materials and Methods: This study included 14 patients with DDLP and 16 patients with WDLP, all of whom were confirmed by histopathological examination. The MRI manifestations of these two pathologies were retrospectively reviewed and compared. Furthermore, a step-by-step procedure regarding preoperative puncture biopsy of fatty masses that are suspicious for WD/DD was designed. Results: Fatty signals can be found in almost all WDs, with a greater proportion of non-fatty areas in DD compared to WD, and it is reasonable to consider WD more likely when the non-fatty areas of the tumor are <25% (p < 0.05), while it is reasonable to consider DD more likely when the non-fatty areas of the tumor are >50% (p < 0.05), and the MRI signals in DD are more complex, inhomogeneous (p < 0.01), usually showed significant enhancement (p < 0.01), and the margins of the tumor were usually indistinct (p < 0.01); and imaging features such as tumor size, vascularity, necrosis, and peritumoral edema did not serve as distinguishing features between the two (p > 0.05). Conclusion: DD has a greater proportion of non-fatty components, with more complex and inhomogeneous MRI signals, and typically shows significant enhancement, with usually indistinct margins of the tumor, in which the inhomogeneous manifestations are associated with the histological components. The possibility of DD should be considered in fatty tumors with non-fatty areas > 25%, for which puncture biopsy is necessary, while simultaneous puncture of low, moderate, high-signal areas within the non-fatty area could improve the accuracy of preoperative puncture pathology.

11.
Cureus ; 16(4): e59244, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38813304

RESUMEN

Liposarcoma is a rare soft-tissue neoplasm originating from adipocytes. The exact cause of liposarcoma is unknown and symptoms vary depending on the tumor's location. A 49-year-old man presented to the emergency room complaining of epigastric pain radiating to the back and right upper quadrant. Cross-sectional imaging revealed a large upper abdominal mass that was thought to be a gastrointestinal stromal tumor (GIST) arising from the duodenum at first. The patient underwent en-bloc resection of the mass and was planned for adjuvant chemotherapy. Subsequently, multiple tissue samples were examined, leading to the final diagnosis of de-differentiated liposarcoma. The patient eventually developed multiple recurrences and was subjected to re-resection surgeries and three different chemotherapy regimens. Given the rarity of the disease, no standardized therapy plan is available, highlighting the need for more case reports/series and trials to broaden our understanding of this disease.

12.
Mod Pathol ; 37(6): 100494, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38621503

RESUMEN

GLI1(12q13.3) amplification is identified in a subset of mesenchymal neoplasms with a distinct nested round cell/epithelioid phenotype. MDM2 and CDK4 genes are situated along the oncogenic 12q13-15 segment, amplification of which defines well-differentiated liposarcoma (WDLPS)/dedifferentiated liposarcoma (DDLPS). The 12q amplicon can occasionally include GLI1, a gene in close proximity to CDK4. We hereby describe the first cohort of GLI1/MDM2/CDK4 coamplified WD/DDLPS. The departmental database was queried retrospectively for all cases of WD/DDLPS having undergone next-generation (MSK-IMPACT) sequencing with confirmed MDM2, CDK4, and GLI1 coamplification. Clinicopathologic data was obtained from a review of the medical chart and available histologic material. Four hundred eighty-six WD/DDLPS cases underwent DNA sequencing, 92 (19%) of which harbored amplification of the GLI1 locus in addition to that of MDM2 and CDK4. These included primary tumors (n = 60), local recurrences (n = 29), and metastases (n = 3). Primary tumors were most frequently retroperitoneal (47/60, 78%), mediastinal (4/60, 7%), and paratesticular (3/60, 5%). Average age was 63 years, with a male:female ratio of 3:2. The cohort was comprised of DDLPS (86/92 [93%], 6 of which were WDLPS with early dedifferentiation) and WDLPS without any longitudinal evidence of dedifferentiation (6/92, 7%). One-fifth (13/86, 17%) of DDLPS cases showed no evidence of a well-differentiated component in any of the primary, recurrent, or metastatic specimens. Dedifferentiated areas mostly showed high-grade undifferentiated pleomorphic sarcoma-like (26/86,30%) and high-grade myxofibrosarcoma-like (13/86,16%) morphologies. A disproportionately increased incidence of meningothelial whorls with/without osseous metaplasia was observed as the predominant pattern in 16/86 (19%) cases, and GLI1-altered morphology as described was identified in a total of 10/86 (12%) tumors. JUN (1p32.1), also implicated in the pathogenesis of WD/DDLPS, was coamplified with all 3 of MDM2, CDK4, and GLI1 in 7/91 (8%) cases. Additional loci along chromosomal arms 1p and 6q, including TNFAIP3, LATS1, and ESR1, were also amplified in a subset of cases. In this large-scale cohort of GLI1 coamplified WD/DDLPS, we elucidate uniquely recurrent features including meningothelial whorl-like and GLI-altered morphology in dedifferentiated areas. Assessment of tumor location (retroperitoneal or mediastinal), identification of a well-differentiated liposarcoma component, and coamplification of other spatially discrete genomic segments (1p and 6q) might aid in distinction from tumors with true driver GLI1 alterations.


Asunto(s)
Quinasa 4 Dependiente de la Ciclina , Amplificación de Genes , Liposarcoma , Proteína con Dedos de Zinc GLI1 , Femenino , Humanos , Masculino , Persona de Mediana Edad , Biomarcadores de Tumor/genética , Quinasa 4 Dependiente de la Ciclina/genética , Liposarcoma/genética , Liposarcoma/patología , Proteínas Proto-Oncogénicas c-mdm2/genética , Estudios Retrospectivos , Proteína con Dedos de Zinc GLI1/genética
14.
Int Cancer Conf J ; 13(2): 171-176, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38524656

RESUMEN

The development of effective treatment strategies for unresectable retroperitoneal sarcoma is desirable. Herein, we suggest that definitive proton therapy (PT) could be a promising treatment option, regardless of the large size of the tumor. A 52-year-old man presented with a discomfort of the lower abdomen. Computed tomography revealed a retroperitoneal tumor, measuring over 20 cm in the largest dimensions, which was surrounded by the gastrointestinal (GI) tract. Biopsy revealed dedifferentiated liposarcoma. Neoadjuvant chemotherapy was ineffective, and the tumor was ultimately deemed unresectable. The patient opted to receive PT instead of continuation of chemotherapy. Spot scanning PT (SSPT) at a total dose of 60.8 Gy (relative biological effectiveness) in 16 fractions was employed. SSPT administered a dose to the tumor while successfully sparing the surrounding GI tract. He did not receive any maintenance systemic therapy after PT. The tumor gradually shrunk over more than 7 years, with no evidence of recurrence outside the irradiation field. The initial measurable tumor volume of 2925 cc decreased to 214 cc at the final follow-up, seven and a half years after PT. The patient is alive without any severe complications.

15.
Cancer Treat Rev ; 125: 102716, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38492514

RESUMEN

Well-differentiated liposarcomas (WDLPS) and dedifferentiated liposarcomas (DDLPS) account for 60 % of all liposarcomas, reflecting the heterogeneity of this type of sarcoma. Genetically, both types of liposarcomas are characterized by the amplification of MDM2 and CDK4 genes, which indicates an important molecular event with diagnostic and therapeutic relevance. In both localized WDLPS and DDLPS of the retroperitoneum and the extremities, between 25 % and 30 % of patients have local or distant recurrence, even when perioperatively treated, with clear margins present. The systemic treatment of WDLPS and DDLPS remains a challenge, with anthracyclines as the gold standard for first-line treatment. Several regimens have been tested with modest results regarding their efficacy. Herein we discuss the systemic treatment options for WDLPS and DDLPS and review their reported clinical efficacy results.


Asunto(s)
Liposarcoma , Neoplasias de los Tejidos Blandos , Humanos , Hermanos , Liposarcoma/tratamiento farmacológico , Liposarcoma/genética , Neoplasias de los Tejidos Blandos/diagnóstico , Resultado del Tratamiento , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteínas Proto-Oncogénicas c-mdm2/uso terapéutico
16.
Front Cell Dev Biol ; 12: 1362696, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38500686

RESUMEN

Background: Dedifferentiated liposarcoma is a formidable sarcoma subtype due to its high local recurrence rate and resistance to medical treatment. While 2D cell cultures are still commonly used, 3D cell culture systems have emerged as a promising alternative, particularly scaffold-based techniques that enable the creation of 3D models with more accurate cell-stroma interactions. Objective: To investigate how 3D structures with or without the scaffold existence would affect liposarcoma cell lines growth morphologically and biologically. Methods: Lipo246 and Lipo863 cell lines were cultured in 3D using four different methods; Matrigel® ECM scaffold method, Collagen ECM scaffold method, ULA plate method and Hanging drop method, in addition to conventional 2D cell culture methods. All samples were processed for histopathological analysis (HE, IHC and DNAscope™), Western blot, and qPCR; moreover, 3D collagen-based models were treated with different doses of SAR405838, a well-known inhibitor of MDM2, and cell viability was assessed in comparison to 2D model drug response. Results: Regarding morphology, cell lines behaved differently comparing the scaffold-based and scaffold-free methods. Lipo863 formed spheroids in Matrigel® but not in collagen, while Lipo246 did not form spheroids in either collagen or Matrigel®. On the other hand, both cell lines formed spheroids using scaffold-free methods. All samples retained liposarcoma characteristic, such as high level of MDM2 protein expression and MDM2 DNA amplification after being cultivated in 3D. 3D collagen samples showed higher cell viability after SAR40538 treatment than 2D models, while cells sensitive to the drug died by apoptosis or necrosis. Conclusion: Our results prompt us to extend our investigation by applying our 3D models to further oncological relevant applications, which may help address unresolved questions about dedifferentiated liposarcoma biology.

17.
Mod Pathol ; 37(4): 100454, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38417627

RESUMEN

Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a recently described adipocytic tumor predominantly affecting the subcutaneous soft tissues of adults. Previous studies have shown that ASPLT follows a benign clinical course with a 4% to 12% local recurrence rate and no risk of dedifferentiation. Herein, we describe the clinicopathologic and molecular findings of 4 cases of ASPLT showing unequivocal sarcomatous transformation. Three patients were male and one was female, aged 65, 70, 74, and 78 years. Two cases presented as mass-forming lesions, while 1 case was incidentally discovered. The tumors measured 30, 55, 80, and 110 mm and occurred in the chest wall (n = 2) or arm (n = 2); all were subcutaneous. Microscopically, they showed a biphasic appearance comprising a low-grade ASPLT component and a high-grade sarcomatous component. The low-grade components showed features in the spectrum of either atypical pleomorphic lipomatous tumor (n = 2) or atypical spindle cell lipomatous tumor (n = 2). The high-grade components displayed leiomyosarcoma-like (n = 2), pleomorphic liposarcoma-like (n = 1) or undifferentiated sarcoma-like (n = 1) morphology. On immunohistochemistry, tumors were negative for MDM2 and showed loss of RB1 expression. In addition, the leiomyosarcoma-like areas seen in 2 cases were positive for smooth muscle actin and H-caldesmon. Single-nucleotide polymorphism array, performed in 3 cases, showed deletions of TP53, RB1, and flanking genes in both components. In contrast, the sarcomatous components showed more complex genomic profiles with rare segmental gains and recurrent loss of PTEN (n = 3), ATM (n = 2), and CDKN2A/B (n = 2) among other genes. Whole exome sequencing identified a TP53 variant in one case and an ATRX variant in another, each occurring in both tumor components. Limited clinical follow-up showed no recurrence or metastasis after 1 to 13 months (median, 7.5 months) postsurgical excision. Altogether, our data support that ASPLT can rarely develop sarcomatous transformation and offer insights into the molecular mechanisms underlying this event.


Asunto(s)
Leiomiosarcoma , Lipoma , Liposarcoma , Sarcoma , Neoplasias de los Tejidos Blandos , Adulto , Humanos , Masculino , Femenino , Biomarcadores de Tumor/análisis , Liposarcoma/genética , Liposarcoma/patología , Sarcoma/genética , Lipoma/patología , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/patología
18.
Hum Pathol ; 145: 56-62, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38401716

RESUMEN

Several high-grade pleomorphic sarcoma cases that cannot be classified into any existing established categories have been reported. These cases were provisionally classified into undifferentiated pleomorphic sarcoma (UPS). Some dedifferentiated liposarcoma (DDLS) cases may also have been classified into the UPS category due to the absence of MDM2 amplification or an atypical lipomatous tumor/well-differentiated liposarcoma component. We retrieved and reviewed 77 high-grade pleomorphic sarcoma cases, initially diagnosed as UPS in 66 cases and DDLS in 11 cases. Fluorescence in situ hybridization (FISH) analyses of DDIT3 and MDM2 were performed for available cases. Of the cases successfully subjected to DDIT3 FISH (n = 56), nine (7 UPS and 2 DDLS) showed DDIT3 amplification but no MDM2 amplification. Two UPS cases showed both telomeric (5') and centromeric (3') amplification of DDIT3 or low polysomy of chromosome 12, whereas 5 UPS and 2 DDLS cases showed 5'-predominant DDIT3 amplification. Histopathologically, all cases showed UPS-like proliferation of atypical pleomorphic tumor cells. Immunohistochemically, only one case showed focal nuclear positivity for DDIT3, supporting the previous finding that DDIT3 expression was not correlated with DDIT3 amplification. All three cases with focal MDM2 expression involved 5'-predominant amplification, two of which showed DDLS-like histological features. The majority of cases (7/9) showed decreased expression in p53 staining, suggesting that DDIT3 amplification regulates the expression of TP53 like MDM2. From a clinicopathological perspective, we hypothesize that DDIT3-amplified sarcoma, especially with 5'-predominant amplification, can be reclassified out of the UPS category.


Asunto(s)
Histiocitoma Fibroso Maligno , Lipoma , Liposarcoma , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Liposarcoma/patología , Hibridación Fluorescente in Situ , Amplificación de Genes , Sarcoma/genética , Sarcoma/patología , Lipoma/diagnóstico , Aberraciones Cromosómicas , Neoplasias de los Tejidos Blandos/diagnóstico , Factor de Transcripción CHOP/genética , Factor de Transcripción CHOP/metabolismo , Proteínas Proto-Oncogénicas c-mdm2/análisis
19.
Radiol Case Rep ; 19(3): 1073-1077, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38229602

RESUMEN

Dedifferentiated liposarcoma is a high-grade entity developed from a preexisting or recurrent well-differentiated liposarcoma, and rarely, it may contain divergent differentiation. We presented the case of a 39-year-old woman with retroperitoneal dedifferentiated liposarcoma with heterologous low-grade osteosarcoma, possessing a special pattern of tumoral calcification.

20.
Open Med (Wars) ; 19(1): 20230886, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38221934

RESUMEN

Background: Dedifferentiated liposarcoma (DDL), a member of malignant mesenchymal tumors, has a high local recurrence rate and poor prognosis. Pyroptosis, a newly discovered programmed cell death, is tightly connected with the progression and outcome of tumor. Objective: The aim of this study was to explore the role of pyroptosis in DDL. Methods: We obtained the RNA sequencing data from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression databases to identify different pyroptosis-related genes (PRGs) expression pattern. An unsupervised method for clustering based on PRGs was performed. Based on the result of cluster analysis, we researched clinical outcomes and immune microenvironment between clusters. The differentially expressed genes (DEGs) between the two clusters were used to develop a prognosis model by the LASSO Cox regression method, followed by the performance of functional enrichment analysis and single-sample gene set enrichment analysis. All of the above results were validated in the Gene Expression Omnibus (GEO) dataset. Results: Forty-one differentially expressed PRGs were found between tumor and normal tissues. A consensus clustering analysis based on PRGs was conducted and classified DDL patients into two clusters. Cluster 2 showed a better outcome, higher immune scores, higher immune cells abundances, and higher expression levels in numerous immune checkpoints. DEGs between clusters were identified. A total of 5 gene signatures was built based on the DEGs and divided all DDL patients of the TCGA cohort into low-risk and high-risk groups. The low-risk group indicates greater inflammatory cell infiltration and better outcome. For external validation, the survival difference and immune landscape between the two risk groups of the GEO cohort were also significant. Receiver operating characteristic curves implied that the risk model could exert its function as an outstanding predictor in predicting DDL patients' prognoses. Conclusion: Our findings revealed the clinical implication and key role in tumor immunity of PRGs in DDL. The risk model is a promising predictive tool that could provide a fundamental basis for future studies and individualized immunotherapy.

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