Clinical Prognostic Factors and Integrated Multi-Omics Studies Identify Potential Novel Therapeutic Targets for Pediatric Desmoid Tumor

Ning, Bo; Huang, Peng; Zhu, Lifei; Ma, Zhijie; Chen, Xiaoli; Xu, Haojun; Ma, Rong; Yao, Chengyun; Zheng, Pengfei; Xia, Tian; Xia, Hongping

doi:10.1186/s12575-022-00180-0

Cited by 1 publication

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References 25 publications

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“…Similar alterations have been shown to increase tumorigenesis in other tumor types but have not been canonically demonstrated in desmoid fibromatosis. 32 The low clinical pattern of recurrence in our series of SNM (12.5%; 1/8 cases), as compared with the high rate of recurrence ( > 65%) seen in desmoid fibromatosis, particularly after resection 33 additionally highlights a striking biologic difference. In a series by Flucke et al, 20 3 pediatric patients were identified with exon 3 CTNNB1 alterations in head and neck desmoid tumors.…”

Section: Discussionmentioning

confidence: 70%

CTNNB1 and APC Mutations in Sinonasal Myxoma

Chen,

Gallant,

Cunningham

et al. 2023

American Journal of Surgical Pathology

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Sinonasal myxoma (SNM) is a rare, benign mesenchymal neoplasm with distinct clinicopathologic features and aberrant nuclear localization of β-catenin by immunohistochemistry. The molecular underpinnings have been linked to that of a “myxoid variant” of desmoid fibromatosis. Herein, we describe a series of 8 cases of SNM and propose clinical and biologic differences compared with desmoid fibromatosis. Our patient cohort is comprised of 5 males and 3 females (age range: 10 mo to 12 y), 6 of whom are aged less than or equal to 24 months. All presented with facial swelling, reflecting lesions involving the maxillary bone, and all underwent resection. All tumors were variably cellular and comprised of bland spindled to stellate cells in a profusely myxoid background with diffuse nuclear β-catenin expression. All cases of SNM were analyzed by next-generation sequencing using the Oncopanel assay. Three cases failed sequencing, 2 of 5 successful cases exhibited exon 3 CTNNB1 alterations involving the ubiquitin recognition motif, and 3 had adenomatous polyposis coli (APC) deletions. One patient had APC germline testing which was negative. No germline testing was available for the remaining 7 patients. Follow-up data over a range of 1 month to 23 years was available for 7 of the 8 SNMs. One case patient had local recurrence, and all were alive without evidence of disease. This is in contrast to the high recurrence rate typically seen in desmoid fibromatosis, particularly after resection. Our findings expand the spectrum of tumors with underlying WNT/β-catenin pathway and highlight the histologic, clinical, and genetic differences of SNM compared with desmoid fibromatosis. APC deletion raises the possibility of underlying germline alteration and familial adenomatous polyposis.

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Section: Discussionmentioning

confidence: 70%