A case of <scp><i>FN1</i></scp>‐fused calcified chondroid mesenchymal neoplasm of the hand with novel <scp><i>FGFR3</i></scp> partner gene

Georgantzoglou, Natalia; Shen, Guomiao; Jour, George; Linos, Konstantinos

doi:10.1002/gcc.23115

Cited by 11 publications

(32 citation statements)

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“…Calcified chondroid mesenchymal neoplasm represents a distinct and recently recognized entity commonly characterized by FN1 gene fusions involving multiple potential tyrosine kinase partners. [4][5][6][7][8][9] These tumors are often found in the temporomandibular joint and the extremities, consisting of polygonal cells surrounded by a cartilaginous or chondroid matrix and frequently exhibiting calcifications with grungy or lace-like patterns. [4][5][6][7][8][9] Initially, 12 cases of a unique tumor characterized by recurrent FN1 rearrangements were reported, termed FN1-rearranged calcified chondroid mesenchymal neoplasm.…”

Section: Discussionmentioning

confidence: 99%

“…[4][5][6][7][8][9] These tumors are often found in the temporomandibular joint and the extremities, consisting of polygonal cells surrounded by a cartilaginous or chondroid matrix and frequently exhibiting calcifications with grungy or lace-like patterns. [4][5][6][7][8][9] Initially, 12 cases of a unique tumor characterized by recurrent FN1 rearrangements were reported, termed FN1-rearranged calcified chondroid mesenchymal neoplasm. 4 The tumors examined in their study were primarily located in the temporomandibular joint and the extremities, consisting of polygonal cells surrounded by a cartilaginous or chondroid matrix.…”

Section: Discussionmentioning

confidence: 99%

“…Subsequent molecular analysis was performed using a targeted RNA sequencing panel NYU FUSION-SEQer. 6 RNA sequencing was performed using NYU FUSION-SEQer, a customized panel that utilizes the Anchored Multiplex PCR-based enrichment technology (AMP; ArcherDX, Inc.) to target 116 customized genes recurrently involved in cancer-associated rearrangements and associated expression profiles. Libraries were then quantified by the KAPA Universal Library Quantification Kit (KAPA Biosystems) and pooled in a 1:1 ratio before being loaded onto Illumina NextSeq550 using high output V2 (300 cycles) kit (Illumina) for sequencing.…”

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confidence: 99%

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Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature

Machado,

Damaskou,

Ioannidis

et al. 2024

J Cutan Pathol

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Calcified chondroid mesenchymal neoplasm is a recently recognized bone and soft tissue entity primarily found in the extremities and the temporomandibular joint. This neoplasm is typically driven by the fusion of the FN1 gene with a kinase. In this case report, we provide a detailed account of a rare superficial calcified chondroid mesenchymal neoplasm located on the left big toe, characterized by an FN1::FGFR2 fusion. The tumor exhibited a peripheral collarette and consisted of large intradermal histiocytoid to epithelioid cells with no mitotic activity. These cells displayed fine chromatin and abundant pale eosinophilic cytoplasm, forming a swirling syncytium. They were interspersed with localized areas of glassy chondromyxoid matrix containing randomly mineralized calcific material and isolated osteoclast‐like giant cells. RNA sequencing confirmed the presence of an FN1 (exon 29)::FGFR2 (exon 7) gene fusion. Our report emphasizes the importance for dermatopathologists to consider this entity when evaluating superficial lesions displaying mesenchymal, chondroid, and calcified attributes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature

Machado,

Damaskou,

Ioannidis

et al. 2024

J Cutan Pathol

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“…Unlike the FN1::FGFR1 fusions typically found in phosphaturic mesenchymal tumor, 37 the fusions present in CCMN do not retain any of the Ig domains of FGFR1 36 . One additional case of CCMN has recently been reported to have a novel FN1::FGFR3 fusion 38 . FGFR4 , an important regulator of myogenesis, is highly expressed in rhabdomyosarcoma but not in mature skeletal muscle.…”

Section: Discussionmentioning

confidence: 99%

“…fusion. 38 FGFR4, an important regulator of myogenesis, is highly expressed in rhabdomyosarcoma but not in mature skeletal muscle.…”

Section: Discussionmentioning

confidence: 99%

FGFR1 gene fusions in a subset of pediatric mesenchymal tumors: Expanding the genetic spectrum of tumors sharing histologic overlap with infantile fibrosarcoma and “NTRK‐rearranged” spindle cell neoplasms

Warmke

Al‐Ibraheemi

Wang

et al. 2023

Genes Chromosomes & Cancer

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As the classification of kinase‐driven spindle cell tumors continues to evolve, we describe the first series of pediatric mesenchymal tumors harboring FGFR1 gene fusions that share histologic overlap with infantile fibrosarcoma and “NTRK‐rearranged” spindle cell neoplasms. Herein, we present three cases of FGFR1‐rearranged pediatric mesenchymal tumors, including one case with FGFR1::PARD6B gene fusion and two cases with FGFR1::EBF2 gene fusion. The tumors involved infants ranging from 3 to 9 months in age with a male‐to‐female ratio of 2:1. All tumors involved the deep soft tissue of the gluteal, pelvic, or perirectal region. Histologically, the tumors comprised a cellular spindle cell neoplasm with primitive stellate cells, focal myxoid stroma, focal epithelioid features, no necrosis, and occasional mitotic figures (2–6 per 10 high‐power field). By immunohistochemistry, the neoplastic cells focally expressed CD34 but lacked expression of S100 protein, SMA, desmin, myogenin, MyoD1, pan‐TRK, and ALK. These three cases, including a case with long‐term clinical follow‐up, demonstrate that FGFR1 fusions occur in a subset of newly described pediatric kinase‐driven mesenchymal tumors with locally aggressive behavior. Importantly, knowledge of these genetic alterations in this spectrum of pediatric tumors is key for diagnostic and targeted therapeutic purposes.

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Chronic hearing loss turns out being a calcified chondroid mesenchymal neoplasm with FN1::FGFR2 fusion

Bauerschmitz,

Agaimy,

Eckstein

et al. 2024

Eur Arch Otorhinolaryngol

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A 53 year old female presented with a six-year history of right-sided slow deterioration in hearing and a feeling of pressure in the right ear. The patient had not experienced any pain but reported some paresthesia of the right half of the tongue, whereas no further other cranial nerve deficits were evident. The otoscopy was unremarkable as well as the rest of the clinical ENT examination except for a slight asymptomatic swelling of the right cheek. Imaging findings showed an expansive tumor infiltrating and destroying the right lateral skull base. The tumor was partially composed of cystic/regressive lesions with high contrast media uptake. The tumor had high-signal intensity with water-sensitive sequences (T2w) and was hypointense on T1w images. We performed a tumor resection via a transparotideal-infratemporal approach. Histologically, the tumor was composed of granular variably calcified chondroid matrix with extensive regressive changes and granulation-like tissue reaction associated with calcinosis and crystal deposition. Molecular analysis of the tumor via the TruSight- RNA-Fusion panel detected a fusion involving FN1::FGFR2, consistent with “calcified chondroid mesenchymal neoplasm” (CCMN), a rare tumor entity recently defined by Liu et al 2021. In regular follow-up care no residual tumor has been detected in imaging studies (MRI and CT) within 2 years and 4 months. The biology and consequently the radio sensitivity cannot be defined precisely since long term results are missing due to the first description of this entity in 2021. As a consequence, surgical resection is recommended as the treatment of choice. Thorough clinical and radiological follow-up is mandatory as local recurrences are to be expected due to the infiltrative behavior. In case of a loco regional recurrence the fusion with FGFR2 may represent a therapeutic option for a targeted therapy on molecular level.

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A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

Cited by 11 publications

References 33 publications

Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature

Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature

FGFR1 gene fusions in a subset of pediatric mesenchymal tumors: Expanding the genetic spectrum of tumors sharing histologic overlap with infantile fibrosarcoma and “NTRK‐rearranged” spindle cell neoplasms

Chronic hearing loss turns out being a calcified chondroid mesenchymal neoplasm with FN1::FGFR2 fusion

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