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. 2024 Sep:209:114270.
doi: 10.1016/j.ejca.2024.114270. Epub 2024 Aug 8.

Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor

Jaime Carrillo-García  1 , Nadia Hindi  2 , Magda Conceicao  3 , María Ángeles Sala  4 , Aitziber Ugalde  5 , Antonio López-Pousa  6 , Silvia Bagué  7 , Isabel Sevilla  8 , Luis Vicioso  9 , Rafael Ramos  10 , Javier Martínez-Trufero  11 , Ma Carmen Gómez Mateo  12 , Josefina Cruz  13 , Carmen Nieves Hernández-León  14 , Andrés Redondo  15 , Marta Mendiola  16 , Jerónimo Martínez García  17 , José Emilio Hernández  18 , Rosa Álvarez  19 , Carolina Agra  20 , Ana de Juan-Ferré  21 , Claudia Valverde  22 , Juana María Cano  23 , Luis Miguel de Sande  24 , José A Pérez-Fidalgo  25 , Javier Lavernia  26 , David Marcilla  27 , Antonio Gutiérrez  28 , David S Moura  29 , Javier Martín-Broto  30
Affiliations

Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor

Jaime Carrillo-García et al. Eur J Cancer. 2024 Sep.

Abstract

Purpose: Prognostic biomarkers remain necessary in sporadic desmoid tumor (DT) because the clinical course is unpredictable. DT location along with gene expression between thoracic and abdominal wall locations was analyzed.

Method: Sporadic DT patients (GEIS Registry) diagnosed between 1982 and 2018 who underwent upfront surgery were enrolled retrospectively in this study. The primary endpoint was relapse-free survival (RFS). Additionally, the gene expression profile was analyzed in DT localized in the thoracic or abdominal wall, harboring the most frequent CTNNB1 T41A mutation.

Results: From a total of 454 DT patients, 197 patients with sporadic DT were selected. The median age was 38.2 years (1.8-89.1) with a male/female distribution of 33.5/66.5. Most of them harbored the CTNNB1 T41A mutation (71.6 %), followed by S45F (17.8 %) and S45P (4.1 %). A significant worse median RFS was associated with males (p = 0.019), tumor size ≥ 6 cm (p = 0.001), extra-abdominal DT location (p < 0.001) and the presence of CTNNB1 S45F mutation (p = 0.013). In the multivariate analysis, extra-abdominal DT location, CTNNB1 S45F mutation and tumor size were independent prognostic biomarkers for worse RFS. DTs harboring the CTNNB1 T41A mutation showed overexpression of DUSP1, SOCS1, EGR1, FOS, LIF, MYC, SGK1, SLC2A3, and IER3, and underexpression of BMP4, PMS2, HOXA9, and WISP1 in thoracic versus abdominal wall locations.

Conclusion: Sporadic DT location exhibits a different prognosis in terms of RFS favoring the abdominal wall compared to extra-abdominal sites. A differential gene expression profile under the same CTNNB1 T41A mutation is observed in the abdominal wall versus the thoracic wall, mainly affecting the Wnt/β-catenin, TGFβ, IFN, and TNF pathways.

Keywords: CTNNB1 S45F; CTNNB1 T41A; Desmoid tumor; Relapse-free survival (RFS); Tumor location.

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Conflict of interest statement

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: J.C.G. report institutional research grants from Pharmamar and Karyopharm. D.S.M. reports institutional research grants from PharmaMar, Eisai, Immix BioPharma and Novartis outside the submitted work; travel support from PharmaMar, Eisai, Celgene, Bayer and Pfizer. N.H. reports grants, personal fees and nonfinancial support from PharmaMar, research grants from Eisai, Immix BioPharma and Novartis outside the submitted work and research funding for clinical studies (institutional) from PharmaMar, Eli Lilly and Company, AROG, Bayer, Eisai, Lixte, Karyopharm, Deciphera, GSK, Novartis, Blueprint, Nektar, Forma, Amgen and Daichii-Sankyo. J.M.B. reports research grants from PharmaMar, Eisai, Immix BioPharma and Novartis outside the submitted work; honoraria for advisory board participation and expert testimony from PharmaMar, honoraria for advisory board participation from Eli Lilly and Company, Bayer and Eisai; and research funding for clinical studies (institutional) from PharmaMar, Eli Lilly and Company, AROG, Bayer, Eisai, Lixte, Karyopharm, Deciphera, GSK, Novartis, Blueprint, Nektar, Forma, Amgen and Daichii-Sankyo. M.C., M.A.S., A.U., A.L.P., S.B., I.S., L.V., R.R., J.M.T., M.C.G.M., J.C., C.N.H.L., A.R., M.M., J.M.G., J.E.H., R.A., C.A., A.J.F., C.V., J.M.C., L.M.S., J.A.P.F., J.L., D.M. and A. G. have declared no conflicts of interest.

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