Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas - Research summary

Sep 28, 2026

Desmoid tumor (DT) is a locally invasive, non-metastasizing soft-tissue neoplasm prone to recurrence, while nuchal-type fibromas are usually benign lesions of the posterior neck. Both tumor types may be linked to hereditary cancer predisposition syndromes, particularly familial adenomatous polyposis (FAP) caused by APC germline mutations, including Gardner syndrome. This study analyzed germline variants in APC, MUTYH, POLD1, and POLE in five pediatric patients.

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CategoryHealthcare

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Introduction

Background on desmoid tumors

Background on nuchal-type fibromas and Gardner syndrome

Familial adenomatous polyposis (FAP) and APC

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas Piedad Alba-Pavón1^, Itziar Astigarraga1,2,3, Lide Alaña1, Isabel Llano-Rivas4, Blanca Gener4, Lorena Mosteiro5, Ricardo López-Almaraz1,2, Aizpea Echebarria-Barona1,2, Olatz Villate1^ 1Pediatric Oncology Group, Biobizkaia Health Research Institute, Barakaldo, Spain; 2Pediatrics Department, Hospital Universitario Cruces, Osakidetza, Barakaldo, Spain; 3Pediatric Department, Universidad del País Vasco UPV/EHU, Leioa, Spain; 4Department of Genetics, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain; 5Department of Pathology, Hospital Universitario Cruces, Osakidetza, Barakaldo, Spain Correspondence to: Olatz Villate, PhD. Pediatric Oncology Group, Biobizkaia Health Research Institute, Plaza Cruces S/N 48903, Barakaldo, Spain. Email: [olatz.villatebejarano@osakidetza.eus](olatz.villatebejarano@osakidetza.eus). Abstract: Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesions that are usually developed in the posterior neck. The development of these neoplasms can be associated with a hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused by APC germline mutations. Gardner syndrome is a variant of FAP characterized by the presence of extracolonic manifestations including soft tissue tumors as DTsand nuchal-type fibromas. However, the development of these tumors could be associated with germline alterations in other genes related to colorectal cancer development. The objective of this study was to analyze germline variants in APC, MUTYH, POLD1 and POLE genes in five pediatric patients diagnosed with DTsor nuchal-type fibromas. We identified two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibroma. Two patients had family history of colorectal cancer, however, only one of them showed an APC germline pathogenic variant. The analysis of germline variants and genetic counseling is essential for pediatric patients diagnosed with DTs or nuchal-type fibromas and their relatives. Keywords: Desmoid tumor (DT); nuchal-type fibroma; germline; next generation sequencing (NGS) Submitted Feb 02, 2023. Accepted for publication Jul 27, 2023. Published online Sep 06, 2023. doi: 10.21037/tp-23-60 View this article at: [https://dx.doi.org/10.21037/tp-23-60](https://dx.doi.org/10.21037/tp-23-60) Introduction Desmoid tumors (DTs), also known as desmoid-type fibromatosis or aggressive fibromatosis, is a rare soft tissue neoplasm characterized by a local aggressive and infiltrative growth (1) . The incidence is approximately 5 cases per million with two peaks of incidences between the ages of 6 and 15 years and around 40 years, being more prevalent in women (2:1, female:male rate) (2) . DTs can arise in different sites classified into three groups located intra-abdominal, abdominal-wall and extraabdominal (3) . These neoplasms are characterized clinically by a variable and unpredictable course and can arise in many patients in the context of a hereditary cancer predisposition syndrome (4) . Around 5–10% of patients who are diagnosed with DT have a pathogenic variant in theAPC gene (5) . Nuchal-type fibroma is a benign tumor that develops from connective tissue and is usually located in the posterior neck. Other localizations are back, chest or shoulder. There ^ ORCID: Piedad Alba-Pavón, 0000-0002-5642-115X; Olatz Villate, 0000-0002-5574-837X. © Translational Pediatrics. All rights reserved. Transl Pediatr 2023;12(9):1715-1724 | [https://dx.doi.org/10.21037/tp-23-60](https://dx.doi.org/10.21037/tp-23

FAQs

What is the main goal of analyzing germline variants in these pediatric patients?

To identify germline alterations in genes related to colorectal cancer development, specifically APC, MUTYH, POLD1, and POLE, in children diagnosed with desmoid tumors or nuchal-type fibromas.

Which genes were investigated for germline variants in the study?

The study analyzed germline variants in APC, MUTYH, POLD1, and POLE.

What were the key findings regarding APC variants and patient family histories?

Two pathogenic APC variants were found in two patients with nuchal-type fibroma and DTs. Two patients had a family history of colorectal cancer, but only one showed an APC germline pathogenic variant.

Sep 28, 2026

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