Spindle cell/sclerosing rhabdomyosarcoma with a novel YAP1-MAML2 fusion in a 1-year-old: not all strongly TRK-expressing spindle cell sarcomas in infants are infantile fibrosarcomas!

Cordier, Fleur; Ameloot, Eline; Dhooge, Catharina; Lapeire, Lore; Sys, Gwen; Dorpe, Jo Van; Creytens, David

doi:10.1016/j.pathol.2021.02.009

Cited by 11 publications

(7 citation statements)

References 7 publications

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“…Whereas, SS-RMS mainly occurs in infants, children, and adults that similar to ES-RMS and has a median age about 24 years, which affects even younger people than E-RMS. But both E-RMS and SS-RMS mainly arises from the head and neck, and extremity [ 10 , 22 – 47 ] (Tables 2 and 3 ).…”

Section: Resultsmentioning

confidence: 99%

“…Additionally, we found that many cases of ES-RMS had local progression or metastasis, and up to 50% (12/24) of ES-RMS had died of disease within the follow-up times, similar to E-RMS (median survival time is 10 month) [ 22 – 32 ], ES-RMS showed a more aggressive behavior and adverse prognosis (median survival time is 17 month) than SS-RMS (median survival time is 65 month) [ 10 , 12 , 15 – 17 , 19 – 21 , 33 , 34 , 36 – 40 , 42 – 47 ] (Tables 1 , 2 and 3 ; Fig. 5 ).…”

Section: Resultsmentioning

confidence: 99%

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Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

Wang

et al. 2023

Diagn Pathol

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Background Epithelioid and spindle rhabdomyosarcoma (ES-RMS) with TFCP2 rearrangement is a recently discovered rare variant of rhabdomyosarcoma composed of epithelioid and spindle cells, because it shows extraordinarily adverse prognosis and is easily misdiagnosed as other epithelioid or spindle cell tumors. Methods A rare case of ES-RMS with TFCP2 rearrangement was presented and English literatures in Pubmed online up to 01 July 2022 were gathered by two authors for a systematic review according to the inclusion and exclusion criteria. Case presentation/results We report a case of ES-RMS in an early 30s-years-old female, the neoplastic cells are remarkably immunoreactive with CK(AE1/AE3), and partially with ALK protein. Unexpectedly, the tumor shows TFCP2 rearrangement with coexistence of increased copy numbers of EWSR1 and ROS1 gene and MET gene mutation. Besides, Next-generation sequencing for genetic mutational profiling revealed frequent MET exon14 mutations in chromosome 7, most of which are C > T nonsynonymous SNV, and exon42 of ROS1 in chromosome 6 showed frequent G > T mutation up to 57.54%. In addition, neither MyoD1 mutation nor gene fusions were detected. Moreover, the patient shows high tumor mutational burden (TMB) up to 14.11 counts/Mb. Finally, as many cases of ES-RMS including our case had local progression or metastasis, we find, similar to epithelioid rhabdomyosarcoma (median survival time is 10 month), ES-RMS shows a more aggressive behavior and adverse prognosis (median survival time is 17 month) than spindle cell/sclerosing rhabdomyosarcoma (median survival time is 65 month) according previous studies. Conclusions ES-RMS with TFCP2 rearrangement is a rare malignant tumor and easily confused with other epithelioid or spindle cell tumors, it may harbor additional gene alteration in addition to TFCP2 rearrangement, such as MET mutation, increased copy numbers of EWSR1 and ROS1 gene, high TMB. Most importantly, it may show very poor outcome with extensive metastasis.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

Wang

et al. 2023

Diagn Pathol

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“…For example, Chiang et al ( 10 ) found that uterine leiomyosarcoma without NTRK gene fusion also expressed Pan-TRK. Meanwhile, Cordier et al ( 30 ) found that rhabdomyosarcoma with YAP1-MAML2 fusion showed Pan-TRK overexpression. Consequently, the detection of NTRK fusion still requires molecular pathology analysis, such as NGS, RT-PCR, and FISH ( 31 ).…”

Section: Discussionmentioning

confidence: 99%

EML4–NTRK3 Fusion Cervical Sarcoma: A Case Report and Literature Review

et al. 2022

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The concept of neurotrophic factor tyrosine kinase receptor (NTRK) fusion tumor has emerged in recent years. Moreover, NTRK fusion is unusual in common tumors but can often be identified in rare tumors. The NTRK fusion cervical or uterine tumors are mainly recognized through case reports due to their extremely low incidence. In this study, we reported a new case of EML4–NTRK3 fusion cervical sarcoma to enhance its recognition. To the best of our knowledge, this is the first case from a Chinese institution. We also conducted a literature review, in which a total of 19 cases of NTRK fusion cervical tumors and 4 cases of uterine tumors were retrieved. We summarized the clinicopathological features, treatment methods, and prognosis of these cases. Based on available information, we observed that surgery and complete excision, if possible, are still the primary modes of therapy. In addition, an increasing number of studies have shown that tropomyosin receptor kinases (TRK) inhibitors can improve the prognosis of cancer patients with NTRK gene fusion, which gives a silver lining for patients with metastatic lesions. We found that age and mitotic rate may be associated with recurrence or metastasis by univariate survival analysis. To draw more convincing conclusions, there is a need to establish an international database of rare cases and aggregate these sporadic cases.

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“…Spindle cell/sclerosing rhabdomyosarcomas are subclassified based on their putative genetic driver events into MYOD1 -mutated, gene fusion-driven, and those with yet unidentified genetic driver events. 11–14 MYOD1 -mutated spindle cell/sclerosing rhabdomyosarcomas harbor a point mutation in exon 1 of MYOD1 that results in the substitution leucine to arginine at amino acid position 122 of the MYOD1 protein (p.Leu122Arg). In a third of the cases, there is also a PIK3CA mutation and rare cases also harbor NRAS or HRAS mutation.…”

Section: Discussionmentioning

confidence: 99%

“…9,10 Spindle cell/sclerosing rhabdomyosarcoma, the most recently recognized subtype of rhabdomyosarcoma and previously considered a variant of embryonal rhabdomyosarcoma, is so-named because of its spindle cell and/or sclerosing histomorphology. Spindle cell/sclerosing rhabdomyosarcomas are subclassified based on molecular findings into MYOD1 -mutated, gene fusion-driven (example: VGLL2 fusions, NCOA2 fusions, TFCP2 fusions, EP300::VGLL3 , CAV1::MET , HMGA2::NEGR1 , YAP1::MAML2 ), 11–14 and a subset with yet unrecognized genetic driver events.…”

Section: Introductionmentioning

confidence: 99%

Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion

et al. 2022

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The spindle cell/sclerosing subtype of rhabdomyosarcoma is classified based on genetic features into the three categories of MYOD1-mutated, gene fusion-driven, and a subset without a currently identified genetic driver event. The gene fusion-driven spindle cell/sclerosing rhabdomyosarcomas are heterogenous and characterized by increasing numbers of gene fusions, the most common gene partners being VGLL2, NCOA2, and TFCP2. Here we report a spindle cell/sclerosing rhabdomyosarcoma that arose in the orbit of a 4-year-old male. This tumor harbored a unique PAX8::PPARG fusion. PAX8::PPARG fusions have previously only been described in follicular thyroid carcinoma and follicular variant of papillary thyroid carcinoma. Our report adds to the growing number of gene fusions in spindle cell/sclerosing rhabdomyosarcomas.

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Spindle cell/sclerosing rhabdomyosarcoma with a novel YAP1-MAML2 fusion in a 1-year-old: not all strongly TRK-expressing spindle cell sarcomas in infants are infantile fibrosarcomas!

Cited by 11 publications

References 7 publications

Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

EML4–NTRK3 Fusion Cervical Sarcoma: A Case Report and Literature Review

Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion

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