Understanding dedifferentiated liposarcoma: an ultra-rare cancer

What is dedifferentiated liposarcoma (DDLPS)?

Dedifferentiated liposarcoma (DDLPS) is an aggressive subtype of a category of cancers called soft tissue sarcoma (STS). 

DDLPS is an aggressive form of liposarcoma with a poor prognosis: 

There is not one defined cause that might lead to someone developing DDLPS, but it is thought that contributing factors might involve age, genes and exposure to chemicals or radiotherapy.³ 

Symptoms and diagnosis of DDLPS

Soft tissue sarcomas (STS) often have no obvious symptoms in the early stages, but the following symptoms can emerge as the condition progresses:^3-5 

• A new visible lump that develops under the skin (not usually painful at first)
• Painful swelling or numbness in the area around the lump
• Constipation
• Abdominal pain, cramping, and/or swelling
• Blood in the stool and/or vomit
• Cough or breathlessness

Due to the rarity of STS, patients are often misdiagnosed.⁶ In many cases, even when sarcoma is suspected, people are referred to the wrong center for treatment.⁶

Typically, DDLPS presents as painless masses that grow gradually in size, resulting in delayed diagnosis.^7,8  Common locations include the abdomen, extremities, head or neck, pelvis and torso.^9,10  

Higher levels of a protein called mouse double minute 2 (MDM2) are seen in over 90% of patients with DDLPS and is therefore considered a hallmark of the disease.^10,11  Specific diagnostic tests can detect markers of MDM2 and are recommended for an accurate and early diagnosis.^10,12

Treatment and management of DDLPS

Treatment options for DDLPS are limited, and there have been no new first-line treatment options in nearly 50 years.^11,13
Currently, the primary treatment for early-stage DDLPS is surgery.¹¹  In some cases (e.g. if the cancer comes back in the same place), a secondary surgery might take place,¹⁴  but benefits are limited, and it is often  accompanied by complications.¹⁴

Past surgery, there are limited systemic therapies for patients with advanced or metastatic DDLPS. The current standard of care is chemotherapy, but less than 10% of patients respond to it.^11,13

Management of DDLPS should be handled by a multidisciplinary group of experienced specialists from the time of diagnosis,¹⁵  as treatment at specialized centers can provide better outcomes in patients.² 

References

1. Schöffski P. Oncol Res Treat. 2022;45(9):525-543.

2. Gootee JM, Curtin CE, Aurit SJ, Randhawa SE, Kang BY, Silberstein PT. Federal Pract. 2019;36(Suppl 5):S34-S41.

3.  NHS. Soft tissue sarcomas. https://www.nhs.uk/conditions/soft-tissue-sarcoma. Accessed April 2024. 

4. Johns Hopkins Medicine. Sarcoma. https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma. Accessed April 2024.

5. Johns Hopkins Medicine. Liposarcoma. https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/liposarcoma. Accessed April 2024.

6. Sarcoma UK. The loneliest cancer. https://sarcoma.org.uk/wp-content/uploads/2022/03/The-loneliest-cancer_Sarcoma-UK-Dec-2019.pdf. Accessed April 2024.

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

8. Chen J, Hang Y, Gao Q, Huang X. Front Surg. 2021;8:672669. doi:10.3389/fsurg.2021.672669.

9. 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.

10. Sciot R. Diagnostics. 2021;11(3):496. doi:10.3390/diagnostics11030496.

11. McGovern Y, Zhou CD, Jones RL. Front Oncol. 2017;7:292. doi:10.3389/fonc.2017.00292.
 
12. Coindre JM, Pédeutour F, Aurias A. Virchows Arch. 2010;456(2):167-179.

13. Italiano A. Cancer Discov. 2023;13(8):1765-1767.

14. Gronchi A, Miceli R, Allard MA, et al. Ann Surg Oncol. 2015;22(5):1447-1454.

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