Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion

Tagami, Yohei; Sugita, Shintaro; Kubo, Terufumi; Iesato, Noriyuki; Emori, Makoto; Takada, Kohichi; Tsujiwaki, Mitsuhiro; Segawa, Keiko; Sugawara, Taro; Kikuchi, Tomoki; Hasegawa, Tadashi

doi:10.1016/j.prp.2019.03.027

Cited by 26 publications

(27 citation statements)

References 9 publications

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“…These tumors were initially reported as a "new variant of epithelioid rhabdomyosarcomas" and have a striking predilection for bones, especially for the craniofacial skeleton, which is a very uncommon feature for rhabdomyosarcomas (6). Their morphological spectrum has been subsequently extended with the description of cases with spindle cell morphology in the small case series reported so far with a total of 10 cases now described in the literature (7)(8)(9)(10). The emerging evidence highlight their predilection for bones, female patients, a frequent spindle cell morphology, common ALK overexpression but substantial clinical follow-up is available for only 2 cases.…”

Section: Original Article Introductionmentioning

confidence: 99%

A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation

et al. 2020

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Rhabdomyosarcomas with TFCP2 fusions represent an emerging subtype of tumors, initially discovered by RNA-sequencing. We report herein the clinicopathological, transcriptional and genomic features of a series of 14 cases.Cases were retrospectively and prospectively recruited and studied by immunohistochemistry (MYF4, MYOD1, S100, AE1/E3, ALK), fluorescence in situ hybridization with TFCP2 break-apart probe (n=10/14), array-comparative genomic hybridization (Agilent), whole RNA-sequencing (Truseq Exome, Illumina) or anchored multiplex PCR based targeted next-generation sequencing (Archer® FusionPlex® Sarcoma kit). Patient's age ranged between 11 to 86 years, including 5 pediatric cases. Tumors were located in bone (n=12/14) and soft tissue (n=2/14). Most bone tumors invaded surrounding soft tissue. Craniofacial bones were over-represented (n=8/12). Median survival was 8 months and 5 patients are currently alive with a median follow-up of 20 months. Most tumors displayed a mixed spindle cell and epithelioid pattern with frequent vesicular nuclei. All tumors expressed keratins and showed a rhabdomyogenic phenotype (defined as expression of MYF4 and/or MYOD1). ALK was overexpressed in all but 3 cases without underlying ALK fusion on break-apart FISH (n=5) nor next generation sequencing (n=14).TFCP2 was fused in 5' either to EWSR1 (n=6) or FUS (n=8). EWSR1 was involved in both soft tissue cases. FISH with TFCP2 break-apart probe was positive in all tested cases (n=8), including one case with unbalanced signal. On array-CGH, all tested tumors displayed complex genetic profiles with genomic indexes ranging from 12.8 to 90 and CDKN2A deletion was recurrent (n=9/10). FET-TFCP2 rhabdomyosarcomas clustered together and distinctly from other rhabdomyosarcomas subgroups.Altogether, our data confirm and expand the spectrum of the new family of FET-TFCP2 rhabdomyosarcomas which are associated with a predilection for the craniofacial bones, an aggressive course and recurrent pathological features. Their association with ALK overexpression might represent a therapeutic vulnerability.

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Section: Original Article Introductionmentioning

confidence: 99%

A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation

et al. 2020

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“…TFCP2-fused RMS have been shown to have a predilection for bones, especially of the craniofacial region. 4,15,16,[19][20][21] The precise primary origin of the tumor could not be inferred in our patient who presented with multi-metastatic disease at diagnosis. However, the symptoms of facial pain at diagnosis and the detection of a large tumor mass on the mandible suggest that the mandible could represent the primary site in this case.…”

Section: Discussionmentioning

confidence: 72%

Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas

Djeroudi

Reynaud

Guillemot

et al. 2021

Genes Chromosomes & Cancer

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Over the last decade, the development of next‐generation sequencing techniques has led to the molecular dismantlement of adult and pediatric sarcoma, with the identification of multiple gene fusions associated with specific subtypes and currently integrated into diagnostic classifications. In this report, we describe and discuss the identification of a novel EWSR1‐UBP1 gene fusion in an adult patient presenting with multi‐metastatic sarcoma. Extensive pathological, transcriptomic, and genomic characterization of this tumor in comparison with a cohort of different subtypes of pediatric and adult sarcoma revealed that this fusion represents a novel variant of spindle cell rhabdomyosarcoma with features of TFCP2‐rearranged subfamily.

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“…[2][3][4][5][6][7][8][9][10][11][12][13][14] Tumor sites include bones (n = 34) especially craniofacial bones, chest wall (n = 1), peritoneum (n = 1), neck (n = 1), inguinal soft tissue (n = 1), and bladder (n = 1). [2][3][4][5][6][7][8][9][10][11][12][13][14] The clinical characteristics of the 12 pediatric cases include an evident female predilection (10 females and two males); all patients were older than 10 years except ours with an average age of 15 years at diagnosis; primary sites were craniofacial bones (n = 10), femur (n = 1), and bladder (n = 1); all the tumors but one with available tumor size information extended 5 cm in maximum diameter with an average of 6.0 cm. 2,8,[12][13][14] Histologically, most tumors displayed a mixed spindle cell and epithelioid pattern with vesicular nuclei, high mitotic activity, and tumor necrosis.…”

Section: E T T E R T O T H E E D I T O R Tfcp2-rearranged Epithelioid...mentioning

confidence: 99%

TFCP2‐rearranged epithelioid and spindle cell rhabdomyosarcoma in the bladder: A rare case in an 8‐year‐old female child

Feng

Ding

et al. 2022

Pediatric Blood & Cancer

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Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion

Cited by 26 publications

References 9 publications

A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation

A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation

Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas

TFCP2‐rearranged epithelioid and spindle cell rhabdomyosarcoma in the bladder: A rare case in an 8‐year‐old female child

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