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Erschienen in: Head and Neck Pathology 1/2021

05.06.2020 | Case Reports

FET(EWSR1)-TFCP2 Rhabdomyosarcoma: An Additional Example of this Aggressive Variant with Predilection for the Gnathic Bones

verfasst von: Ioannis G. Koutlas, Damon R. Olson, Jawhar Rawwas

Erschienen in: Head and Neck Pathology | Ausgabe 1/2021

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Abstract

An example of a mandibular rhabdomyosarcoma in a 15-year-old male is described featuring EWSR1-TFCP2 fusion with homolateral lymph node metastasis and apparent metastasis to the thoracic vertebra T7. This type of rhabdomyosarcoma has preference for the craniofacial skeleton. Histologically, the tumor was composed of spindle and epithelioid cells characterized by nuclear pleomorphism, cytologic atypia and brisk mitotic activity. Immunohistochemically, it featured diffuse positive nuclear staining MYOD1, only focal staining for myogenin and patchy cytoplasmic staining for desmin. Tumor cells were positive for keratins and nuclear staining for SATB2 was also observed. Interestingly, tumor cells were diffusely positive for calponin. Currently, the patient is under chemotherapy treatment.
Literatur
1.
Zurück zum Zitat Miettinen M, Fetch JF, Antonescu CR, Folpe AL, Wakely PE Jr. Rhabdomyosarcoma. In: Miettinen M, Fetch JF, Antonescu CR, Folpe AL, Wakely Jr PE, editors. Tumors of the soft tissues. AFIP Atlas Of Tumor Pathology. 4th ed. Silver Spring, MD: American Registry of Pathology; 2014. pp. 291–304 Miettinen M, Fetch JF, Antonescu CR, Folpe AL, Wakely PE Jr. Rhabdomyosarcoma. In: Miettinen M, Fetch JF, Antonescu CR, Folpe AL, Wakely Jr PE, editors. Tumors of the soft tissues. AFIP Atlas Of Tumor Pathology. 4th ed. Silver Spring, MD: American Registry of Pathology; 2014. pp. 291–304
2.
Zurück zum Zitat Kohashi K, Kinoshita I, Oda Y. Soft tissue special issue: skeletal muscle tumors: a clinicopathological review. Head Neck Pathol. 2020;14:12–20.CrossRef Kohashi K, Kinoshita I, Oda Y. Soft tissue special issue: skeletal muscle tumors: a clinicopathological review. Head Neck Pathol. 2020;14:12–20.CrossRef
3.
Zurück zum Zitat Alaggio R, Zhang L, Sung Y-S, et al. A Molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol. 2016;40:224–35.CrossRef Alaggio R, Zhang L, Sung Y-S, et al. A Molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol. 2016;40:224–35.CrossRef
4.
Zurück zum Zitat Agaram N, LaQuaglia MP, Alaggio R, et al. MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification. Mod Pathol. 2019;32:27–36.CrossRef Agaram N, LaQuaglia MP, Alaggio R, et al. MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification. Mod Pathol. 2019;32:27–36.CrossRef
5.
Zurück zum Zitat Karanian M, Pissaloux D, Gomez-Brouchet A, et al. SRF-FOXO1 and SRF-NCOA1 fusion genes delineate a distinctive subset of well-differentiated rhabdomyosarcoma. Am J Surg Pathol. 2020;44:607–16.CrossRef Karanian M, Pissaloux D, Gomez-Brouchet A, et al. SRF-FOXO1 and SRF-NCOA1 fusion genes delineate a distinctive subset of well-differentiated rhabdomyosarcoma. Am J Surg Pathol. 2020;44:607–16.CrossRef
6.
Zurück zum Zitat Watson S, Perrin V, Guillemot D, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245:29–40.CrossRef Watson S, Perrin V, Guillemot D, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245:29–40.CrossRef
7.
Zurück zum Zitat Dashti NK, Wehrs RN, Thomas BC, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathol. 2018;73:514–20.CrossRef Dashti NK, Wehrs RN, Thomas BC, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathol. 2018;73:514–20.CrossRef
8.
Zurück zum Zitat Agaram N, Zhang L, Sung Y-S, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma. Correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43:695–702.CrossRef Agaram N, Zhang L, Sung Y-S, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma. Correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43:695–702.CrossRef
9.
Zurück zum Zitat Le Loarer F, Cleven AHG, Bouvier C, et al. A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. Mod Pathol. 2020;33:404–19.CrossRef Le Loarer F, Cleven AHG, Bouvier C, et al. A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. Mod Pathol. 2020;33:404–19.CrossRef
10.
Zurück zum Zitat Kovar H. Dr. Jeckyll and Mr. Hyde: the two faces of the FUS/EWS/TAF15 protein family. Sarcoma. 2011;2011:837474.CrossRef Kovar H. Dr. Jeckyll and Mr. Hyde: the two faces of the FUS/EWS/TAF15 protein family. Sarcoma. 2011;2011:837474.CrossRef
11.
Zurück zum Zitat Zhu G, Benayed R, Ho C, et al. Diagnosis of known sarcoma fusions and novel fusion partners by targeted RNA sequencing with identification of a recurrent ACTB-FOSB fusion in pseudomyogenic hemangioendothelioma. Mod Pathol. 2019;32:609–20.CrossRef Zhu G, Benayed R, Ho C, et al. Diagnosis of known sarcoma fusions and novel fusion partners by targeted RNA sequencing with identification of a recurrent ACTB-FOSB fusion in pseudomyogenic hemangioendothelioma. Mod Pathol. 2019;32:609–20.CrossRef
12.
Zurück zum Zitat Flaitz CM, Hicks MJ. Primary intraosseous rhabdomyosarcoma: rare subtype involving mandible with unique translocation. 74th Annual Meeting, American Academy of Oral and Maxillofacial Pathology, Nashville; Abstract ID:43; poster No:55; 2020 Flaitz CM, Hicks MJ. Primary intraosseous rhabdomyosarcoma: rare subtype involving mandible with unique translocation. 74th Annual Meeting, American Academy of Oral and Maxillofacial Pathology, Nashville; Abstract ID:43; poster No:55; 2020
13.
Zurück zum Zitat Leinweber B, Tang JX, Stafford WF, Chalovich JM. Calponin interaction with alpha-actinin-actin: evidence for a structural role for calponin. Biophys J. 1999;77:3208–17.CrossRef Leinweber B, Tang JX, Stafford WF, Chalovich JM. Calponin interaction with alpha-actinin-actin: evidence for a structural role for calponin. Biophys J. 1999;77:3208–17.CrossRef
14.
Zurück zum Zitat Michal M, Rubin BP, Kazakov DV, et al. Inflammatory leiomyosarcoma shows frequent co-expression of smooth and skeletal muscle markers supporting a primitive myogenic phenotype: a report of 9 cases with a proposal for reclassification as low-grade inflammatory myogenic tumor. Virchows Arch. 2020. https://doi.org/10.1007/s00428-020-02774-z.CrossRefPubMed Michal M, Rubin BP, Kazakov DV, et al. Inflammatory leiomyosarcoma shows frequent co-expression of smooth and skeletal muscle markers supporting a primitive myogenic phenotype: a report of 9 cases with a proposal for reclassification as low-grade inflammatory myogenic tumor. Virchows Arch. 2020. https://​doi.​org/​10.​1007/​s00428-020-02774-z.CrossRefPubMed
16.
Zurück zum Zitat Davis JL, Horvai AE. Special AT-rich sequence-binding protein 2 (SATB2) expression is sensitive but may not be specific for osteosarcoma as compared with other high-grade primary bone sarcomas. Histopathology. 2016;69:84–90.CrossRef Davis JL, Horvai AE. Special AT-rich sequence-binding protein 2 (SATB2) expression is sensitive but may not be specific for osteosarcoma as compared with other high-grade primary bone sarcomas. Histopathology. 2016;69:84–90.CrossRef
17.
Zurück zum Zitat Hornick JL. Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors. Mod Pathol. 2014;27(Suppl 1):47–63.CrossRef Hornick JL. Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors. Mod Pathol. 2014;27(Suppl 1):47–63.CrossRef
19.
20.
Zurück zum Zitat Zhou X, Hao Q, Lu H. Mutant p53 in cancer therapy-the barrier or the path. J Mol Cell Biol. 2019;11:293–305.CrossRef Zhou X, Hao Q, Lu H. Mutant p53 in cancer therapy-the barrier or the path. J Mol Cell Biol. 2019;11:293–305.CrossRef
22.
Zurück zum Zitat Charville GW, Wang W-L, Ingram DR, et al. EWSR1 fusion proteins mediate PAX7 expression in Ewing sarcoma. Mod Pathol. 2017;30:1312–20.CrossRef Charville GW, Wang W-L, Ingram DR, et al. EWSR1 fusion proteins mediate PAX7 expression in Ewing sarcoma. Mod Pathol. 2017;30:1312–20.CrossRef
23.
Zurück zum Zitat Sirvent N, Trassard M, Ebran N, Attias R, Pedeutour F. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. Cancer Genet Cytogenet. 2009;195:12–8.CrossRef Sirvent N, Trassard M, Ebran N, Attias R, Pedeutour F. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. Cancer Genet Cytogenet. 2009;195:12–8.CrossRef
24.
Zurück zum Zitat Kotarba G, Krzywinska E, Grabowska AI, Taracha A, Wilanowski T. TFCP2/TFCP2L1/UBP1 transcription factors in cancer. Cancer Lett. 2018;420:72–9.CrossRef Kotarba G, Krzywinska E, Grabowska AI, Taracha A, Wilanowski T. TFCP2/TFCP2L1/UBP1 transcription factors in cancer. Cancer Lett. 2018;420:72–9.CrossRef
26.
Zurück zum Zitat Porta-de-la-Riva M, Stanisavljevic J, Curto J, et al. TFCP2c/LSF/LBP-1c is required for Snail1-induced fibronectin gene expression. Biochem J. 2011;435:563–8.CrossRef Porta-de-la-Riva M, Stanisavljevic J, Curto J, et al. TFCP2c/LSF/LBP-1c is required for Snail1-induced fibronectin gene expression. Biochem J. 2011;435:563–8.CrossRef
28.
Zurück zum Zitat Yoo BK, Emdad L, Gredler R, et al. Transcription factor Late SV40 Factor (LSF) functions as an oncogene in hepatocellular carcinoma. Proc Natl Acad Sci USA. 2010;107:8357–62.CrossRef Yoo BK, Emdad L, Gredler R, et al. Transcription factor Late SV40 Factor (LSF) functions as an oncogene in hepatocellular carcinoma. Proc Natl Acad Sci USA. 2010;107:8357–62.CrossRef
29.
Zurück zum Zitat Yuedi D, Yuankun C, Jiaying Z, et al. TFCP2 activates beta-catenin/TCF signaling in the progression of pancreatic cancer. Oncotarget. 2017;8:70538–49.CrossRef Yuedi D, Yuankun C, Jiaying Z, et al. TFCP2 activates beta-catenin/TCF signaling in the progression of pancreatic cancer. Oncotarget. 2017;8:70538–49.CrossRef
30.
Zurück zum Zitat Chen C-H, Tsai H-T, Chuang H-C, et al. Metformin disrupts malignant behavior of oral squamous cell carcinoma via a novel signaling involving late SV40 factor/Aurora A. Sci Rep. 2017;7:1358.CrossRef Chen C-H, Tsai H-T, Chuang H-C, et al. Metformin disrupts malignant behavior of oral squamous cell carcinoma via a novel signaling involving late SV40 factor/Aurora A. Sci Rep. 2017;7:1358.CrossRef
31.
Zurück zum Zitat Goto Y, Yajima I, Kumasaka M, et al. Transforming factor LSF (TFCP2) inhibits melanoma growth. Oncotarget. 2016;7:2379–90.CrossRef Goto Y, Yajima I, Kumasaka M, et al. Transforming factor LSF (TFCP2) inhibits melanoma growth. Oncotarget. 2016;7:2379–90.CrossRef
32.
Zurück zum Zitat Pulling LC, Grimes MJ, Damiani LA, et al. Dual promoter regulation of death-associated protein kinase gene leads to differentially silenced transcripts by methylation in cancer. Carcinogenesis. 2009;30:2023–30.CrossRef Pulling LC, Grimes MJ, Damiani LA, et al. Dual promoter regulation of death-associated protein kinase gene leads to differentially silenced transcripts by methylation in cancer. Carcinogenesis. 2009;30:2023–30.CrossRef
33.
Zurück zum Zitat Kang HC, Chae JH, Kim BS, et al. Transcription factor CP2 is involved in activating mBMP4 in mouse mesenchymal stem cells. Mol Cells. 2004;17:454–61.PubMed Kang HC, Chae JH, Kim BS, et al. Transcription factor CP2 is involved in activating mBMP4 in mouse mesenchymal stem cells. Mol Cells. 2004;17:454–61.PubMed
Metadaten
Titel
FET(EWSR1)-TFCP2 Rhabdomyosarcoma: An Additional Example of this Aggressive Variant with Predilection for the Gnathic Bones
verfasst von
Ioannis G. Koutlas
Damon R. Olson
Jawhar Rawwas
Publikationsdatum
05.06.2020
Verlag
Springer US
Erschienen in
Head and Neck Pathology / Ausgabe 1/2021
Elektronische ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-020-01189-1

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