Desmoplastic Small Round Cell Tumors: Clinical Presentation, Molecular Characterization, and Therapeutic Approach of Seven Patients.

Autor: Gaidzik VI; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany.; Center of Personalised Medicine, University Hospital of Ulm, Ulm, Germany., Mayer-Steinacker R; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany., Wittau M; Department of General and Visceral Surgery, University Hospital of Ulm, Ulm, Germany., Schultheiß M; Department of Trauma-, Hand- and Reconstructive Surgery, University Hospital of Ulm, Ulm, Germany., V Baer A; Department of Trauma-, Hand- and Reconstructive Surgery, University Hospital of Ulm, Ulm, Germany., Oehl-Huber K; Institute of Human Genetics, University Hospital of Ulm and University of Ulm, Ulm, Germany., Dahlum S; Institute of Human Genetics, University Hospital of Ulm and University of Ulm, Ulm, Germany., Fischer A; Institute of Human Genetics, University Hospital of Ulm and University of Ulm, Ulm, Germany., Gerstenmaier U; Institute of Pathology, University of Ulm, Ulm, Germany., Seufferlein T; Center of Personalised Medicine, University Hospital of Ulm, Ulm, Germany.; Department of Internal Medicine I, University Hospital of Ulm, Ulm, Germany., Buck A; Department of Nuclear Medicine, University Hospital of Würzburg, Würzburg, Germany., Beer A; Department of Nuclear Medicine, University Hospital of Ulm, Ulm, Germany., Thaiss W; Department of Nuclear Medicine, University Hospital of Ulm, Ulm, Germany., Möller P; Institute of Pathology, University of Ulm, Ulm, Germany., Döhner H; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany., Siebert R; Institute of Human Genetics, University Hospital of Ulm and University of Ulm, Ulm, Germany., Marienfeld R; Institute of Pathology, University of Ulm, Ulm, Germany., Barth TFE; Institute of Pathology, University of Ulm, Ulm, Germany.
Jazyk: angličtina
Zdroj: Sarcoma [Sarcoma] 2024 Oct 08; Vol. 2024, pp. 5036102. Date of Electronic Publication: 2024 Oct 08 (Print Publication: 2024).
DOI: 10.1155/2024/5036102
Abstrakt: Desmoplastic small round blue cell tumor (DSRCT) is a highly aggressive fatal sarcoma without evidence-based therapeutic guidelines. We present here seven patients with DSRCT including immunohistochemistry combined with fluorescence in situ hybridization (FISH), next generation sequencing (NGS, n  = 6) as well as OncoScan array ( n  = 3) analyses and show consecutive therapeutic approaches. All seven DSRCT patients presented with an extended abdominal mass; median age at diagnosis was 24.8 years. NGS analyses revealed five class 4 or 5 sequence variants. Remarkably, OncoScan and targeted analyses by FISH identified genomic gains of CCND1 in two cases. Cyclin D1 expression was present in all seven tumors as shown by immunohistochemical staining. Multimodal therapeutic concepts included systemic therapies, resection, and radiation. Six patients were treated as first-line therapy with conventional chemotherapy. All except one patient had a dismal therapy response. Subsequent therapy lines consisted of chemotherapeutic combinations followed by targeted therapies. Due to Cyclin D1 expression, the CDK4/6 inhibitor palbociclib was applied to four patients. The median therapy duration until disease progression in these patients was 4.5 months (range, 1.5-5 months). So, CCND1 genomic gain and Cyclin D1 expression are common features pointing to cell-cycle deregulation as a possible therapeutic target.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2024 Verena I. Gaidzik et al.)
Databáze: MEDLINE
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