# A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management

**Authors:** Shahzaib Nabi, Abhijit Saste, Rohit Gulati

PMC · DOI: 10.1155/2015/925453 · Case Reports in Oncological Medicine · 2015-08-09

## TL;DR

A 26-year-old man with a rare cancer called desmoplastic small round cell tumor showed improvement after chemotherapy.

## Contribution

This case highlights the diagnosis and successful initial management of a rare metastatic tumor in a young adult.

## Key findings

- The patient was diagnosed with metastatic desmoplastic small round cell tumor through CT-guided biopsy.
- Chemotherapy with vincristine, cyclophosphamide, and doxorubicin led to clinical improvement and extubation.
- The patient was discharged after two chemotherapy cycles and a 2-month hospital stay.

## Abstract

A 26-year-old male without any significant past medical history presented to the hospital with shortness of breath, cough, pleuritic chest pain, and weight loss for the past 3 months. On chest CT, he was found to have extensive mediastinal and hilar lymphadenopathy and multiple pulmonary nodules. On physical examination, a right groin mass was noted which had been slowly growing for the past 2 years. Ultrasound of the groin showed complex solid mass with internal vascular channels. CT guided biopsy of the mass showed desmoplastic small round cell tumour. His hospital course was complicated by hypoxic respiratory failure requiring emergent intubation and ICU admission where he completed one cycle of vincristine, cyclophosphamide, and doxorubicin with subsequent improvement, followed by extubation. His condition continued to improve after second cycle of chemotherapy and he was ultimately discharged in a stable condition to continue outpatient chemotherapy after a 2-month inpatient stay.

## Linked entities

- **Chemicals:** vincristine (PubChem CID 5978), cyclophosphamide (PubChem CID 2907), doxorubicin (PubChem CID 31703)
- **Diseases:** desmoplastic small round cell tumour (MONDO:0019373)

## Full-text entities

- **Genes:** ERG (ETS transcription factor ERG) [NCBI Gene 2078] {aka LMPHM14, erg-3, p55}, WT1 (WT1 transcription factor) [NCBI Gene 7490] {aka AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1}, VIM (vimentin) [NCBI Gene 7431], EWSR1 (EWS RNA binding protein 1) [NCBI Gene 2130] {aka EWS, EWS-FLI1}, CILK1 (ciliogenesis associated kinase 1) [NCBI Gene 22858] {aka CED6, ECO, EJM10, ICK, LCK2, MRK}, TXK (TXK tyrosine kinase) [NCBI Gene 7294] {aka BTKL, PSCTK5, PTK4, RLK, TKL}, DES (desmin) [NCBI Gene 1674] {aka CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R}, NCAM1 (neural cell adhesion molecule 1) [NCBI Gene 4684] {aka CD56, MSK39, NCAM}, FLI1 (Fli-1 proto-oncogene, ETS transcription factor) [NCBI Gene 2313] {aka BDPLT21, EWSR2, FLI-1, SIC-1}
- **Diseases:** sexually transmitted diseases (MESH:D012749), pulmonary (MESH:D008171), sarcomas (MESH:D012509), groin mass (MESH:C536030), pneumothorax (MESH:D011030), cough (MESH:D003371), tuberculosis (MESH:D014376), night (MESH:D009755), pulmonary nodules (MESH:D055613), fever (MESH:D005334), febrile neutropenia (MESH:D064147), wheezing (MESH:D012135), liver metastasis (MESH:D009362), infection (MESH:D007239), lymphadenopathy (MESH:D008206), hypoxia (MESH:D000860), hypoxic respiratory failure (MESH:D012131), primitive neuroectodermal tumour (MESH:D018241), resorption atelectasis (MESH:D001261), compression (MESH:D009408), testicular masses (MESH:D013733), ulcers (MESH:D014456), chest wall tenderness (MESH:D063806), DSRCT (MESH:D058405), opacities (MESH:D003318), pulmonary tumour (MESH:D008175), effect (MESH:D065606), sweats (MESH:D013543), leg swelling (MESH:D004487), Round Cell Tumour (MESH:D018208), Cancer (MESH:D009369), neurological deficits (MESH:D009461), nodes (MESH:D012804), organomegaly (MESH:D016878), weight loss (MESH:D015431), PNET (MESH:D018242), metastatic disease (MESH:D000092182), Wilms' tumour (MESH:D009396), respiratory distress (MESH:D012128), Ewing's sarcoma (MESH:D012512), chest pain (MESH:D002637), Desmoplastic (MESH:D018220), shortness of breath (MESH:D004417)
- **Chemicals:** temsirolimus (MESH:C401859), Yttrium (MESH:D015019), cyclophosphamide (MESH:D003520), thiotepa (MESH:D013852), ifosfamide (MESH:D007069), pazopanib (MESH:C516667), H&amp;E (MESH:D006371), vincristine (MESH:D014750), IE (-), etoposide (MESH:D005047), Cisplatin (MESH:D002945), doxorubicin (MESH:D004317), alcohol (MESH:D000438)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

7 figures with captions in the complete paper: https://tomesphere.com/paper/PMC4546747/full.md

## References

28 references — full list in the complete paper: https://tomesphere.com/paper/PMC4546747/full.md

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Source: https://tomesphere.com/paper/PMC4546747