Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC</i> variant, c.4666dup

Kiessling, Patrick; Dowling, E.M.; Huang, Yajue; Ho, Mai‐Lan; Balakrishnan, Karthik; Weigel, Brenda; Highsmith, W. Edward; Niu, Zhiyv; Schimmenti, Lisa A.

doi:10.1101/mcs.a003640

Cited by 11 publications

(15 citation statements)

References 24 publications

(31 reference statements)

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“…described a patient with GS and a de novo APC mutation who developed multiple painful soft tissue tumors, though only the painless index lesion on the forehead was excised and on histology showed a typical GF with a predominant fibrous component. 3…”

Section: Discussionmentioning

confidence: 99%

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis

et al. 2020

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Gardner fibroma (GF) is a benign soft-tissue tumor that is associated with Gardner syndrome and can progress to, or co-occur with, desmoid fibromatosis (DF). Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed GF and DF. DF arising from a preexisting GF (the so-called “GF-DF sequence”) is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear β-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF–DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF–DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors. The histologic findings of an adipocyte-rich intramuscular GF also are unique, expanding the morphological spectrum of GF and adding GF to the differential diagnosis of intramuscular lesions with an adipocytic component.

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Section: Discussionmentioning

confidence: 99%

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis

et al. 2020

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“…Most nuchal-type fibromas arose in the posterior neck (2-9, 11-18, 23). However, other anatomic sites of origin were also reported less frequently, such as the back (3,5,(20)(21)(22) chest (20,21), shoulder (5,19,22,27,30,32), scapula (2,5,19), thigh (21), buttock (25,31), scalp (3,21,26), sacral region (28), mouth floor (33), eyebrow (29) and coccyx (23) ( Table I). A nuchal-type fibroma usually presents itself as a subcutaneous, soft-tissue, firm mass (3, 5, 6, 8, 12-19, 21, 25, 29, 32) that can be fixed or mobile (6,8,11,14,(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28) and painless or mildly tender (1, 3, 4, 7, 14, 16-19, 21, 24-28, 31, 33) (Table II) (Table III).…”

Section: Resultsmentioning

confidence: 99%

“…[31][32][33]. Two articles reported that a nuchal-type fibroma was depicted as a hypoechoic mass during a diagnostic ultrasound (17,29). Moreover, another article reported a nuchal-type fibroma with high density and two articles reported wellcircumscribed masses on computed tomography (9,29,33).…”

Section: Microscopic View Of the Surgical Specimen A: Thick Haphamentioning

confidence: 99%

“…In addition, there are also a few reports of patients with this type of tumor that underwent MRI scans. The respective lesions demonstrated low signal intensity on T1, T2, turbo inversion recovery magnitude (TIRM) and short inversion time inversion recovery (STIR) weighted MRI sequences (7,19,23,24,29,31) with one tumor displaying homogeneous enhancement (31) and another tumor no enhancement after intravenous contrast administration (7). However, there was a case in which the tumor had mixed signal intensity in T1 and T2 weighted MRI sequences (32).…”

Section: Microscopic View Of the Surgical Specimen A: Thick Haphamentioning

confidence: 99%

“…1-6, 8-19, 21, 23, 24, 26-28, 30, 31, 33). It is noteworthy that out of the 12 patients with multiple fibromas(5,10,14,15,21,22,26,29), 6 (50.0%) had Gardner's syndrome(5,21,22). Moreover, the majority of patients with nuchal-type fibromas and Gardner's syndrome were male [13/20 (65.0%)].…”

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confidence: 99%

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Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review

Kostakis

Feretis

Damaskos

et al. 2020

In Vivo

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Background: Nuchal-type fibroma is a rare benign tumor arising from the connective tissue. Our aim was to present our experience via two cases of this tumor and a comprehensive review of the literature. Patients and Methods: We report a case of a 23-year-old female with a mass located in the posterior neck and the upper back and a case of a 50-year-old male with a mass located in the posterior neck, which were proved to be nuchal-type fibromas in the histopathological examination. We also searched the PubMed/Medline database for published cases of nuchal-type fibromas. Results and Discussion: Nuchaltype fibroma is a rare benign tumor arising from the connective tissue, usually in the posterior neck, which affects different ages, with most patients being male. It is a poorly circumscribed tumor consisting of hypocellular, thick, dense and haphazardly arranged collagen bundles with entrapped adipocytes, nerve fibers and muscle fascicles and a few scattered spindle cells, which are CD34 positive. Its excision is curative, and the recurrence risk is generally low. However, patients with Gardner's syndrome may experience recurrence more frequently. Conclusion: Nuchal-type fibroma should be included in the differential diagnosis of subcutaneous, soft-tissue masses, especially when these involve the posterior neck. Nuchal-type fibroma is a rare benign tumor arising from the connective tissue (1). It is usually located in the posterior neck (2-18) and affects different ages (5), with most patients being male (1-3, 5-13, 17, 19-29). Since the first description of nuchal-type fibroma by Enzinger and Weiss in 1988 (1), over than 100 cases have been reported in the literature (1-33). Herein, we report a case of a 23-year-old female with a mass located in the posterior neck and the upper back and a case of a 50-year-old male with a mass located in the posterior neck. Both cases were proved to be nuchal-type fibromas in the histopathological examination. We present a review of all the reported cases of this entity in the literature.

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Cutaneous ultrasound of the nuchal-type fibroma: diagnostic clues and surgery planning

Verdaguer-Faja,

Rodríguez-Garijo,

Arean-Cuns

et al. 2024

J Ultrasound

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Nuchal-type fibroma is a rare, benign tumour, arising from the connective tissue and characterized by their usual location in the posterior neck, although extra-nuchal locations may also occur. The excision of nuchal-type fibroma is curative, although it presents as a large poorly circumscribed lesion in the dermal and subcutaneous fat layer, with adipose tissue and muscle fascicles entrapment, what can lead to partial excisions and relapses. Due to its rarity, little is known about the sonographic appearances of nuchal-type fibroma. An early identification and correct extension evaluation is essential to facilitate adequate treatment. Through two clinical cases, we illustrate in this article the utility of cutaneous ultrasound in the early diagnosis of these tumours, highlighting its role in the diagnosis but also in the pre-surgical evaluation improving margins assessment and delimitation.

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Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Cited by 11 publications

References 24 publications

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis

Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review

Cutaneous ultrasound of the nuchal-type fibroma: diagnostic clues and surgery planning

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