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Looking into the diagnostic workup of dedifferentiated liposarcoma (DDLPS).

Looking into the diagnostic workup of dedifferentiated liposarcoma (DDLPS)

Due to their low prevalence and heterogeneity, sarcomas present challenges for accurate diagnosis1,2

  • The histologic hallmark of DDLPS is the abrupt transition from WDLPS to DDLPS3

    - DDLPS can be associated with well-defined areas; therefore, in a diagnosis, distinguishing DDLPS from WDLPS is important2 

  • Biomarkers are emerging as an important component of diagnosis for DDLPS:
    - MDM2: Distinguishes DDLPS and WDLPS from benign lipomas4
    - CDK4: Co-amplification with MDM2 is a sensitive and specific marker for diagnosis of DDLPS/WDLPS4
    - HMGA2: Amplified in 60% of DDLPS cases4
    - CPM, YEATS4: Implicated in dedifferentiation5

Getting deeper into the diagnostic workup of DDLPS

Tumour biopsyBiomarker testing

Tumour biopsy helps to determine histologic type and subtype, as well as the extent of tumour necrosis6

  • Gross appearance is of multinodular yellow (fatty) masses containing tan-grey areas of dedifferentiation7

To complement the histological analysis, cross-sectional imaging based on tumour location assists in the establishment of differential diagnosis6

DDLPS CT scan


J Clin Oncol 36:151-159. © 2017 by American Society of Clinical Oncology. Licensed under the Creative Commons Attribution 4.0 License: http://creativecommons.org/licenses/by/4.0/

Excess MDM2 is a hallmark of DDLPS; nearly all patients with advanced DDLPS present with excess MDM28

  • IHC: To distinguish DDLPS and WDLPS from other adipocytic tumours9

  • FISH: Can serve as a useful diagnostic adjunct for DDLPS by identifying status of MDM2 amplification9

  • NGS: Can be an option in patients to conduct broader molecular profiling10

DDLPS IHC and FISH


FISH is more sensitive than IHC.9

Adapted from Lokka S, et al. BMC Clin Pathol. 2014;14:36. Used under the Creative Commons Attribution 4.0 License: http://creativecommons.org/licenses/by/4.0/

DDLPS belongs to a heterogeneous group of rare tumours where management by a group of experienced specialists is suggested in patient care from the time of diagnosis6

DDLPS patient
Tumor cell icon

Retroperitoneal tumours present later; due to their anatomical location, they often remain physically hidden, resulting in delayed diagnosis2,12

Given the complexities of DDLPS, what is the best approach to managing this sarcoma?
Go to the next page to learn the recommended approach.

CDK4=cyclin-dependent kinase 4; CPM=carboxypeptidase M; FISH=fluorescence in situ hybridisation; HMGA2=high-mobility group AT-hook 2; IHC=immunohistochemistry; MDM2=mouse double minute 2; NGS=next-generation sequencing; WDLPS=well-differentiated liposarcoma; YEATS4=YEATS domain-containing protein 4.

References:

  1. Gounder MM, Agaram NP, Trabucco SE, et al. Nat Commun. 2022;13(1):3406. doi:10.1038/s41467-022-30496-0

  2. Gahvari Z, Parkes A. Curr Treat Options Oncol. 2020;21(2):15. doi:10.1007/s11864-020-0705-7

  3. Nishio J, Nakayama S, Nabeshima K, Yamamoto T. J Clin Med. 2021;10(15):3230. doi:10.3390/jcm10153230

  4. Jagosky MH, Anderson CJ, Symanowski JT, et al. Cancer Med. 2023;12(6):7029-7038.

  5. Lee ATJ, Thway K, Huang PH, Jones RL. J Clin Oncol. 2018;36(2):151-159. doi:10.1200/JCO.2017.74.9598

  6. Gamboa AC, Gronchi A, Cardona K. CA Cancer J Clin. 2020;70(3):200-229.

  7. Coindre JM, Pédeutour F, Aurias A. Virchows Arch. 2010;456(2):167-179.

  8. McGovern Y, Zhou CD, Jones RL. Front Oncol. 2017;7:292. doi:10.3389/fonc.2017.00292

  9. Thway K. Semin Diagn Pathol. 2019;36(2):112-121.

  10. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Soft Tissue Sarcoma V.3.2023. © National Comprehensive Cancer Network, Inc. 2023. All rights reserved. Accessed 6 March 2024. To view the most recent and complete version of the guidelines, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

  11. Lokka S, Scheel AH, Dango S, et al. BMC Clin Pathol. 2014;14:36. doi:10.1186/1472-6890-14-3

  12. Nguyen K, Gootee J, Aurit S, Albagoush S, Curtin C, Silberstein P. Surg Case Rep. 2021;4(2):7-7. doi:10.31487/j.SCR.2021.02.02