PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors

Iwamura, Ryuji; Komatsu, Kazuki; Kusano, Midori; Kubo, Chisachi; Inaba, Yuna; Shiba, Eisuke; Nawata, Aya; Tajiri, Ryosuke; Matsuyama, Atsuji; Matoba, Hisanori; KOGA, Kaori; Takeda, Maiko; Itami, Hiroe; Hisaoka, Masanori

doi:10.1016/j.modpat.2022.100070

Cited by 10 publications

(6 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Preliminary research has indicated that genetic modifications involve BRAF, NOTCH, PDGFRB, KRAS, and SMARCB1 [ 18 , 35 , 36 , 37 , 38 ]. Moreover, certain authors propose a traumatic etiology, drawing from a documented case involving a digital glomangioma [ 39 ].…”

Section: General Information and Histopathological Considerationsmentioning

confidence: 99%

Diagnostic and Therapeutic Insights into Spinal Glomangioma of a Unique Intradural, Extramedullary Presentation—Systematic Review

Czyżewski,

Litak,

Pasierb

et al. 2024

Diseases

View full text Add to dashboard Cite

Contemporary literature lacks examples of intradural, extramedullary spinal glomangiomas. Moreover, glomus tumors in general are exceedingly rare among benign spinal tumors and are mostly located within epidural space or within intervertebral foramen, and only a few cases have been documented to date. This report provides a detailed analysis of the clinical presentation, imaging characteristics, surgical intervention, and pathological findings of a 45-year-old patient experiencing progressive locomotor deterioration. The tumor was surgically excised, and subsequent histological examination identified it as a representative of glomus tumors—a glomangioma. Notably, this represents a unique case as it was the first example of such a tumor being discovered intradurally. Radical surgical excision remains the modality of choice in most benign spinal tumors of this localization. Although the malignant transformation of glomus tumors within the spine has not been documented thus far, cases have arisen in other areas. Consequently, we will investigate potential oncological treatments for cases with malignant potential and highlight advancements in surgical techniques for benign intradural spinal tumors.

show abstract

Section: General Information and Histopathological Considerationsmentioning

confidence: 99%

Diagnostic and Therapeutic Insights into Spinal Glomangioma of a Unique Intradural, Extramedullary Presentation—Systematic Review

Czyżewski,

Litak,

Pasierb

et al. 2024

Diseases

View full text Add to dashboard Cite

show abstract

“…After a thorough literature search of the PubMed and Google Scholar databases, only 10 previous cases of finger MPCs were found (refer to Though the etiopathogenesis of MPCs is still largely unknown, recent studies have revealed some genetic abnormalities, such as platelet-derived growth factor receptor-beta (PDGFRB) mutations, NOTCH receptor 3 (NOTCH3) mutations, serum response factor, and NOTCH rearrangements as being associated with various pericytic tumors. Among these genetic abnormalities, PDGFRB somatic mutations are associated with sporadic myopericytomas [12]. However, some authors have proposed trauma [13] and AIDS as possible triggers [14].…”

Section: Case Presentationmentioning

confidence: 99%

Myopericytoma of the Right Middle Finger: A Case Report of an Uncommon Perivascular Neoplasm

Awosusi,

Attia,

Nwadiokwu

2024

Cureus

View full text Add to dashboard Cite

This report describes the case of a 29-year-old male who presented with painless swelling on the volar aspect of his right middle finger. The initial clinical impression was consistent with an epidermal inclusion cyst. A plain radiograph of the lesion revealed a circumscribed superficial nodular soft tissue mass confined to the dermis of the affected finger. Following surgical excision and subsequent histopathologic examination, the lesion was ultimately identified as a myopericytoma (MPC). The occurrence of MPCs in the finger is uncommon; thus, a high level of suspicion is required to consider it as one of the differential diagnoses for painless nodules in this anatomical location. Surgery serves as the primary method for treatment, and histopathologic evaluation plays a crucial role in confirming the diagnosis and ruling out malignancy.

show abstract

“…2 The genetic landscape of glomus tumors is still being elucidated. [3][4][5][6][7][8] CARMN::NOTCH1-3 fusions were first described in 2013 by Mosquera et al, 3 with NOTCH2 fusions predominating over NOTCH1 and NOTCH3 fusions. CARMN is a long-noncoding RNA that is expressed in vascular smooth muscle cells, and it contains MIR143 and MIR145 which were previously implicated specifically in NOTCH gene fusions.…”

Section: Introductionmentioning

confidence: 99%

“…Morphologically, malignant glomus tumors can show a malignant spindled morphology resembling leiomyosarcoma or fibrosarcoma or may consist of sheets of malignant round cells 2 . The genetic landscape of glomus tumors is still being elucidated 3–8 . CARMN::NOTCH1‐3 fusions were first described in 2013 by Mosquera et al, 3 with NOTCH2 fusions predominating over NOTCH1 and NOTCH3 fusions.…”

Section: Introductionmentioning

confidence: 99%

Novel ATG7::RAF1 gene fusion in malignant glomus tumor

Shafi,

Jones,

Iwenofu

et al. 2023

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Glomus tumors are classified as members of the perivascular myoid family of tumors. Nearly half of these show NOTCH‐gene fusions and a smaller subset has BRAF V600E mutations. Here, we report a novel ATG7::RAF1 fusion in malignant glomus tumor occurring in a 40‐year‐old female which has not been reported in the malignant glomus tumor before. A 40‐year‐old female presented with a persistent lateral heel pain and an increase in the size of a mass along the lateral ankle for nearly 10 years. Resected specimen showed a well circumscribed lesion composed of spindled and epithelioid cells with moderate nuclear atypia and mitotic figures (7/10 high‐power fields) including atypical forms without any necrosis, lymphovascular, or perineural invasion. The tumor was positive for smooth muscle actin, smooth muscle myosin heavy chain, H‐caldesmon, collagen type IV, and discovered on gastronintestinal stromal tumors‐1 but negative for AE1/3, desmin, S‐100, CD34, and CD117. RNA sequencing showed presence of ATG7‐RAF1 fusion. This fusion has not been reported in the malignant glomus tumor before. Future studies on larger cohorts are needed to ascertain the biological significance of these tumors with novel gene fusions.

show abstract

PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors

Cited by 10 publications

References 35 publications

Diagnostic and Therapeutic Insights into Spinal Glomangioma of a Unique Intradural, Extramedullary Presentation—Systematic Review

Diagnostic and Therapeutic Insights into Spinal Glomangioma of a Unique Intradural, Extramedullary Presentation—Systematic Review

Myopericytoma of the Right Middle Finger: A Case Report of an Uncommon Perivascular Neoplasm

Novel ATG7::RAF1 gene fusion in malignant glomus tumor

Contact Info

Product

Resources

About