Intracranial desmoplastic small round cell tumor presenting as a suprasellar mass

2015 ◽  
Vol 122 (4) ◽  
pp. 773-777 ◽  
Author(s):  
Sravan K. Thondam ◽  
Daniel du Plessis ◽  
Daniel J. Cuthbertson ◽  
Kumar S. V. Das ◽  
Mohsen Javadpour ◽  
...  
Keyword(s):  
Young Adults ◽  
Wilms Tumor ◽  
Mediastinal Lymph Node ◽  
Postoperative Treatment ◽  
Whole Body ◽  
Whole Body Imaging ◽  
Round Cell ◽  
Primary Malignancy ◽  
Small Round Cell ◽  
First Case

Desmoplastic small round cell tumors (DSRCTs) are rare, aggressive neoplasms that typically arise from abdominal and pelvic peritoneum in young adults. Other primary sites are uncommon, and an intracranial origin is exceptionally rare. Here the authors report the first case of a DSRCT presenting as a primary suprasellar tumor causing panhypopituitarism and severe bitemporal hemianopia in a young man. Macroscopic debulking of the tumor was undertaken, and histology revealed features of DSRCT. Reverse transcription polymerase chain reaction confirmed the presence of Ewing's sarcoma–Wilms tumor 1 (EWS-WT1) gene rearrangement specific to DSRCT. Postoperative whole-body imaging showed no primary malignancy elsewhere. The tumor recurred 4 months after surgery, and this was followed by cervical and mediastinal lymph node metastases. The patient died 20 months after initial presentation of rapidly progressive disease. DSRCTs should be included in the differential diagnosis of an unusual suprasellar mass in young adults. Early diagnosis is essential, and once the tumor is identified histologically, gross-total resection and radical postoperative treatment involving radiotherapy, chemotherapy, and close surveillance are required because of the lesion's potential for rapidly progressive malignancy.

Desmoplastic Small Round Cell Tumor of the Kidney Mimicking Wilms Tumor

2009 ◽  
Vol 17 (6) ◽  
pp. 557-562 ◽  
Author(s):  
Rogério Cardoso da Silva ◽  
Plínio Medeiros Filho ◽  
Lucimara Chioato ◽  
Tácio R.B. Silva ◽  
Sérgio M. Ribeiro ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

A phase 1, open-label, dose escalation study of enoblituzumab (MGA271) in pediatric patients with B7-H3-expressing relapsed or refractory solid tumors.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. TPS2596-TPS2596 ◽  
Author(s):  
Kenneth Desantes ◽  
John M. Maris ◽  
Kimberly McDowell ◽  
Crystal Mackall ◽  
Sadhna Shankar ◽  
...  
Keyword(s):  
Antitumor Activity ◽  
Solid Tumors ◽  
Wilms Tumor ◽  
Phase 1 ◽  
Round Cell ◽  
Open Label ◽  
Expansion Phase ◽  
Small Round Cell ◽  
Measurable Disease ◽  
Label Dose

TPS2596 Background: Enoblituzumab, is an Fc optimized humanized IgG1 monoclonal antibody that binds to B7-H3 (CD276), a member of the B7 family. It is Fc-engineered to enhance effector function including antibody dependent cellular cytotoxicity (ADCC). IHC analyses with the parental anti-B7H3 mAb specificity incorporated in enoblituzmab revealed limited B7-H3 expression in normal tissues but high expression in many cancers (Loo et al., 2012). Among pediatric solid tumors, high expression of B7-H3 has been reported in neuroblastoma, rhabdomyosarcoma, osteosarcoma, Wilms tumor, Ewing’s sarcoma and desmoplastic small round cell tumor. B7-H3 overexpression correlates with poor prognosis in a broad range of cancers in adults suggesting a potential role in enabling tumor immune escape. ADCC and potential modulation of T cell function resulting in enhanced antitumor immune response are presumed mechanisms of action of enoblituzumab. Methods: This is an open-label, dose escalation / cohort expansion phase 1 study (NCT02982941) designed to characterize the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of enoblituzumab in children and young adults with B7-H3-expressing relapsed or refractory malignant solid tumors. A 3+3 design is used in escalating dose cohorts of weekly intravenous (IV) enoblituzumab starting at 10 mg/kg. Response is first determined at 8 weeks. irRECIST is used for response assessment for patient management. Enoblituzumab may continue up to 2 years based on response. Cohort expansion phase, to further define the safety and initial antitumor activity of enoblituzumab, will start after maximum tolerated dose is determined. The patients are assigned to 1 of 5 cohorts based on disease type as follows: 1) neuroblastoma - measurable disease, 2) neuroblastoma - non-measurable disease, 3) rhabdomyosarcoma, 4) osteosarcoma, and 5) Ewing’s sarcoma, Wilms’ tumor and desmoplastic small round cell tumors. Enrollment is ongoing. Ref : Development of an Fc-enhanced anti-B7-H3 monoclonal antibody with potent antitumor activity. Loo D, Alderson RF, Chen FZ, Huang L et al. Clin Cancer Res. 2012; 18:3834-45. Clinical trial information: NCT02982941.

Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)

2014 ◽  
Vol 38 (9) ◽  
pp. 1220-1226 ◽  
Author(s):  
Michael A. Arnold ◽  
Lynn Schoenfield ◽  
Berkeley N. Limketkai ◽  
Christina A. Arnold
Keyword(s):  
Wilms Tumor ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Diagnostic Pitfalls

DESMOPLASTIC SMALL ROUND CELL TUMOR: A CASE REPORT

2021 ◽  
pp. 7-8
Author(s):  
Bhuwan Kumar ◽  
Rajde Singh ◽  
Anurag Mishra
Keyword(s):  
Young Adults ◽  
Case Report ◽  
Poor Prognosis ◽  
Malignant Neoplasm ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Mesenchymal Tissue

Desmoplastic small round cell tumor is a rare, highly malignant neoplasm originating from mesenchymal tissue which was initially described in 1 1991 by Gerald and Rosai. It is composed of small round tumor cells of uncertain histogenesis associated with prominent stromal desmoplasia and 2 polyphenotypic differentiation. It typically occurs in adolescents and young adults. Usually presents with widespread abdominal, serosal, and mesenteric involvement with poor prognosis.

Variant EWS-WT1 Chimeric Product in the Desmoplastic Small Round Cell Tumor

1999 ◽  
Vol 2 (2) ◽  
pp. 188-192 ◽  
Author(s):  
Agnes S. Chan ◽  
Sue MacNeill ◽  
Paul Thorner ◽  
Jeremy Squire ◽  
Maria Zielenska
Keyword(s):  
Chromosomal Translocation ◽  
Cell Tumor ◽  
Round Cell ◽  
Chromosome 11 ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Binding Domains ◽  
First Case ◽  
Hybrid Genes

Chromosome translocations found in neoplasms often result in the creation of hybrid genes encoding chimeric proteins. Desmoplastic small round cell tumor (DSRCT) is a recently described aggressive malignancy associated with a unique chromosomal translocation t(11;22)(p13; q12). This translocation has recently been characterized, revealing the rearrangement and fusion of the WT1 gene on chromosome 11 to the EWS gene on chromosome 22. Fusion of these two genes results in the production of a putative oncogenic protein composed of the zinc finger DNA-binding domains of WT1 linked to the potential transcriptional regulatory domains of EWS. The typical chimeric transcript consists of the first 7 exons of EWS and the last 3 exons of WT1. We report here the first case of DSRCT with a variant EWS-WT1 chimeric product that includes 9 exons of EWS and 3 exons of WT1.

Primary Mucinous Cystadenocarcinoma of the Breast: A Rare Case Report With Review of Literature

2021 ◽  
pp. 106689692199165
Author(s):  
Ekta Jain ◽  
Abhishek Kumar ◽  
Raajul Jain ◽  
Shivani Sharma
Keyword(s):  
Mucinous Cystadenocarcinoma ◽  
Whole Body ◽  
Molecular Testing ◽  
Whole Body Imaging ◽  
Cytokeratin 20 ◽  
Braf Mutations ◽  
Palpable Mass ◽  
Viral Oncogene ◽  
First Case ◽  
Viral Oncogene Homolog

Primary mucinous cystadenocarcinoma (MCA) of the breast is a rare variant of breast carcinoma known to have a favorable prognosis despite showing a basal-like phenotype. We describe a case of MCA breast in a 45-year-old female with a palpable mass in the breast. On the basis of the histopathological and immunohistochemical evaluation of a lumpectomy specimen with the absence of mass anywhere else on whole-body imaging, a diagnosis of primary MCA was rendered. Mismatch repair protein evaluation showed this tumor to be microsatellite stable. Molecular testing revealed the absence of Kirsten rat sarcoma viral oncogene homolog (KRAS), neuroblastoma RAS viral oncogene homolog (NRAS), and v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations. To date only 27 cases of MCA breast have been reported. To the best of our knowledge, ours is the first case documenting diffuse Cytokeratin 20 (CK20) positivity, microsatellite stability, and the absence of KRAS, NRAS, and BRAF mutations in these tumors. The rarity of this tumor further evokes an interest in this case. A better understanding of the disease warrants a review of more cases with longer follow-ups.

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