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Open Access 16-01-2024 | Sarcoma | REVIEW AND PERSPECTIVES

Current challenges and practical aspects of molecular pathology for bone and soft tissue tumors

Author: Enrique de Álava

Published in: Virchows Archiv | Issue 2/2024

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Abstract

This review shows the extraordinary change molecular pathology has induced in the classification, diagnosis, and clinical practice of molecular pathologists dealing with sarcomas. We have primarily focused on the practical aspects of molecular studies and the current and mid-term challenges for our subspecialty, ending with ten tips for the next generation of sarcoma molecular pathologists.
Literature
1.
go back to reference WHO Classification of Tumours Editorial Board (2020) Soft tissue and bone tumours. WHO classification of tumours. Vol. 3. 5th ed. Lyon: IARC Publications WHO Classification of Tumours Editorial Board (2020) Soft tissue and bone tumours. WHO classification of tumours. Vol. 3. 5th ed. Lyon: IARC Publications
2.
go back to reference Kallen ME, Hornick JL (2021) The 2020 WHO classification: what’s new in soft tissue tumor pathology? Am J Surg Pathol 45(1):e1–e23PubMedCrossRef Kallen ME, Hornick JL (2021) The 2020 WHO classification: what’s new in soft tissue tumor pathology? Am J Surg Pathol 45(1):e1–e23PubMedCrossRef
3.
go back to reference Sbaraglia M, Bellan E, Dei Tos AP (2021) The 2020 WHO classification of soft tissue tumours: news and perspectives. Pathologica 113(2):70–84PubMedCrossRef Sbaraglia M, Bellan E, Dei Tos AP (2021) The 2020 WHO classification of soft tissue tumours: news and perspectives. Pathologica 113(2):70–84PubMedCrossRef
4.
go back to reference Setty BA, Jinesh GG, Arnold M, Pettersson F, Cheng CH, Cen L, Yoder SJ, Teer JK, Flores ER, Reed DR, Brohl AS (2020) The genomic landscape of undifferentiated embryonal sarcoma of the liver is typified by C19MC structural rearrangement and overexpression combined with TP53 mutation or loss. PLoS Genet 16(4):e1008642PubMedPubMedCentralCrossRef Setty BA, Jinesh GG, Arnold M, Pettersson F, Cheng CH, Cen L, Yoder SJ, Teer JK, Flores ER, Reed DR, Brohl AS (2020) The genomic landscape of undifferentiated embryonal sarcoma of the liver is typified by C19MC structural rearrangement and overexpression combined with TP53 mutation or loss. PLoS Genet 16(4):e1008642PubMedPubMedCentralCrossRef
5.
go back to reference Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS (2020) A risk-based treatment strategy for non-rhabdomyosarcoma soft-tissue sarcomas in patients younger than 30 years (ARST0332): a Children’s Oncology Group prospective study. Lancet Oncol 21(1):145–161PubMedCrossRef Spunt SL, Million L, Chi YY, Anderson J, Tian J, Hibbitts E, Coffin C, McCarville MB, Randall RL, Parham DM, Black JO, Kao SC, Hayes-Jordan A, Wolden S, Laurie F, Speights R, Kawashima E, Skapek SX, Meyer W, Pappo AS, Hawkins DS (2020) A risk-based treatment strategy for non-rhabdomyosarcoma soft-tissue sarcomas in patients younger than 30 years (ARST0332): a Children’s Oncology Group prospective study. Lancet Oncol 21(1):145–161PubMedCrossRef
6.
go back to reference Lam SW, Silva TM, Bovée JVMG (2022) New molecular entities of soft tissue and bone tumors. Curr Opin Oncol 34(4):354–361PubMedCrossRef Lam SW, Silva TM, Bovée JVMG (2022) New molecular entities of soft tissue and bone tumors. Curr Opin Oncol 34(4):354–361PubMedCrossRef
7.
go back to reference Oda Y, Yamamoto H, Kohashi K, Yamada Y, Iura K, Ishii T, Maekawa A, Bekki H (2017) Soft tissue sarcomas: from a morphological to a molecular biological approach. Pathol Int 67(9):435–446PubMedCrossRef Oda Y, Yamamoto H, Kohashi K, Yamada Y, Iura K, Ishii T, Maekawa A, Bekki H (2017) Soft tissue sarcomas: from a morphological to a molecular biological approach. Pathol Int 67(9):435–446PubMedCrossRef
8.
go back to reference Papke DJ Jr, Hornick JL (2022) Recent advances in the diagnosis, classification and molecular pathogenesis of cutaneous mesenchymal neoplasms. Histopathology 80(1):216–232PubMedCrossRef Papke DJ Jr, Hornick JL (2022) Recent advances in the diagnosis, classification and molecular pathogenesis of cutaneous mesenchymal neoplasms. Histopathology 80(1):216–232PubMedCrossRef
9.
go back to reference Stacchiotti S, Miah AB, Frezza AM, Messiou C, Morosi C, Caraceni A, Antonescu CR, Bajpai J, Baldini E, Bauer S, Biagini R, Bielack S, Blay JY, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brodowicz T, Callegaro D, De Alava E, Deoras-Sutliff M, Dufresne A, Eriksson M, Errani C, Fedenko A, Ferraresi V, Ferrari A, Fletcher CDM, Garcia Del Muro X, Gelderblom H, Gladdy RA, Gouin F, Grignani G, Gutkovich J, Haas R, Hindi N, Hohenberger P, Huang P, Joensuu H, Jones RL, Jungels C, Kasper B, Kawai A, Le Cesne A, Le Grange F, Leithner A, Leonard H, Lopez Pousa A, Martin Broto J, Merimsky O, Merriam P, Miceli R, Mir O, Molinari M, Montemurro M, Oldani G, Palmerini E, Pantaleo MA, Patel S, Piperno-Neumann S, Raut CP, Ravi V, Razak ARA, Reichardt P, Rubin BP, Rutkowski P, Safwat AA, Sangalli C, Sapisochin G, Sbaraglia M, Scheipl S, Schöffski P, Strauss D, Strauss SJ, Sundby Hall K, Tap WD, Trama A, Tweddle A, van der Graaf WTA, Van De Sande MAJ, Van Houdt W, van Oortmerssen G, Wagner AJ, Wartenberg M, Wood J, Zaffaroni N, Zimmermann C, Casali PG, Dei Tos AP, Gronchi A (2021) Epithelioid hemangioendothelioma, an ultra-rare cancer: a consensus paper from the community of experts. ESMO Open 6(3):100170PubMedPubMedCentralCrossRef Stacchiotti S, Miah AB, Frezza AM, Messiou C, Morosi C, Caraceni A, Antonescu CR, Bajpai J, Baldini E, Bauer S, Biagini R, Bielack S, Blay JY, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brodowicz T, Callegaro D, De Alava E, Deoras-Sutliff M, Dufresne A, Eriksson M, Errani C, Fedenko A, Ferraresi V, Ferrari A, Fletcher CDM, Garcia Del Muro X, Gelderblom H, Gladdy RA, Gouin F, Grignani G, Gutkovich J, Haas R, Hindi N, Hohenberger P, Huang P, Joensuu H, Jones RL, Jungels C, Kasper B, Kawai A, Le Cesne A, Le Grange F, Leithner A, Leonard H, Lopez Pousa A, Martin Broto J, Merimsky O, Merriam P, Miceli R, Mir O, Molinari M, Montemurro M, Oldani G, Palmerini E, Pantaleo MA, Patel S, Piperno-Neumann S, Raut CP, Ravi V, Razak ARA, Reichardt P, Rubin BP, Rutkowski P, Safwat AA, Sangalli C, Sapisochin G, Sbaraglia M, Scheipl S, Schöffski P, Strauss D, Strauss SJ, Sundby Hall K, Tap WD, Trama A, Tweddle A, van der Graaf WTA, Van De Sande MAJ, Van Houdt W, van Oortmerssen G, Wagner AJ, Wartenberg M, Wood J, Zaffaroni N, Zimmermann C, Casali PG, Dei Tos AP, Gronchi A (2021) Epithelioid hemangioendothelioma, an ultra-rare cancer: a consensus paper from the community of experts. ESMO Open 6(3):100170PubMedPubMedCentralCrossRef
10.
go back to reference Whaley RD, Thompson LDR (2021) Epstein-Barr virus-associated smooth muscle tumors of larynx: a clinicopathologic study and comprehensive literature review of 12 cases. Head Neck Pathol 15(4):1162–1171PubMedPubMedCentralCrossRef Whaley RD, Thompson LDR (2021) Epstein-Barr virus-associated smooth muscle tumors of larynx: a clinicopathologic study and comprehensive literature review of 12 cases. Head Neck Pathol 15(4):1162–1171PubMedPubMedCentralCrossRef
11.
go back to reference Kao YC, Bennett JA, Suurmeijer AJH, Dickson BC, Swanson D, Wanjari P, Zhang L, Lee JC, Antonescu CR (2021) Recurrent MEIS1-NCOA2/1 fusions in a subset of low-grade spindle cell sarcomas frequently involving the genitourinary and gynecologic tracts. Mod Pathol 34(6):1203–1212PubMedPubMedCentralCrossRef Kao YC, Bennett JA, Suurmeijer AJH, Dickson BC, Swanson D, Wanjari P, Zhang L, Lee JC, Antonescu CR (2021) Recurrent MEIS1-NCOA2/1 fusions in a subset of low-grade spindle cell sarcomas frequently involving the genitourinary and gynecologic tracts. Mod Pathol 34(6):1203–1212PubMedPubMedCentralCrossRef
12.
go back to reference Liu YJ, Wang W, Yeh J, Wu Y, Mantilla JG, Fletcher CDM, Ricciotti RW, Chen EY (2021) Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis. Mod Pathol 34(7):1373–1383PubMedCrossRef Liu YJ, Wang W, Yeh J, Wu Y, Mantilla JG, Fletcher CDM, Ricciotti RW, Chen EY (2021) Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis. Mod Pathol 34(7):1373–1383PubMedCrossRef
13.
go back to reference Wang L, Zehir A, Sadowska J, Zhou N, Rosenblum M, Busam K, Agaram N, Travis W, Arcila M, Dogan S, Berger MF, Cheng DT, Ladanyi M, Nafa K, Hameed M (2015) Consistent copy number changes and recurrent PRKAR1A mutations distinguish melanotic schwannomas from melanomas: SNP-array and next generation sequencing analysis. Genes Chromosomes Cancer 54(8):463–471. https://doi.org/10.1002/gcc.22254CrossRefPubMedPubMedCentral Wang L, Zehir A, Sadowska J, Zhou N, Rosenblum M, Busam K, Agaram N, Travis W, Arcila M, Dogan S, Berger MF, Cheng DT, Ladanyi M, Nafa K, Hameed M (2015) Consistent copy number changes and recurrent PRKAR1A mutations distinguish melanotic schwannomas from melanomas: SNP-array and next generation sequencing analysis. Genes Chromosomes Cancer 54(8):463–471. https://​doi.​org/​10.​1002/​gcc.​22254CrossRefPubMedPubMedCentral
14.
go back to reference Cidre-Aranaz F, Watson S, Amatruda JF, Nakamura T, Delattre O, de Alava E, Dirksen U, Grünewald TGP (2022) Small round cell sarcomas. Nat Rev Dis Primers 8(1):66PubMedCrossRef Cidre-Aranaz F, Watson S, Amatruda JF, Nakamura T, Delattre O, de Alava E, Dirksen U, Grünewald TGP (2022) Small round cell sarcomas. Nat Rev Dis Primers 8(1):66PubMedCrossRef
15.
go back to reference Chen CH, Chang KC, Chuang CH, Fu JT, Huang HY (2022) The emerging PRRX1-NCOA fibroblastic neoplasm: a combined reappraisal of published tumors and two new cases. Virchows Arch 481(1):111–116PubMedCrossRef Chen CH, Chang KC, Chuang CH, Fu JT, Huang HY (2022) The emerging PRRX1-NCOA fibroblastic neoplasm: a combined reappraisal of published tumors and two new cases. Virchows Arch 481(1):111–116PubMedCrossRef
16.
go back to reference Mancini I, Righi A, Gambarotti M, Picci P, Dei Tos AP, Billings SD, Simi L, Franchi A (2017) Phenotypic and molecular differences between giant-cell tumour of soft tissue and its bone counterpart. Histopathology 71(3):453–460PubMedCrossRef Mancini I, Righi A, Gambarotti M, Picci P, Dei Tos AP, Billings SD, Simi L, Franchi A (2017) Phenotypic and molecular differences between giant-cell tumour of soft tissue and its bone counterpart. Histopathology 71(3):453–460PubMedCrossRef
17.
go back to reference Odate T, Satomi K, Kubo T, Matsushita Y, Ueno T, Kurose A, Shomori K, Nakai T, Watanabe R, Segawa K, Ohshika S, Miyake N, Kudo S, Shimoi T, Kobayashi E, Komiyama M, Yoshimoto S, Nakatani F, Kawai A, Yatabe Y, Kohsaka S, Ichimura K, Ichikawa H, Yoshida A (2023) Inflammatory rhabdomyoblastic tumor: clinicopathologic and molecular analysis of 13 cases. Mod Pathol 37:100359. https://doi.org/10.1016/j.modpat.2023.100359CrossRefPubMed Odate T, Satomi K, Kubo T, Matsushita Y, Ueno T, Kurose A, Shomori K, Nakai T, Watanabe R, Segawa K, Ohshika S, Miyake N, Kudo S, Shimoi T, Kobayashi E, Komiyama M, Yoshimoto S, Nakatani F, Kawai A, Yatabe Y, Kohsaka S, Ichimura K, Ichikawa H, Yoshida A (2023) Inflammatory rhabdomyoblastic tumor: clinicopathologic and molecular analysis of 13 cases. Mod Pathol 37:100359. https://​doi.​org/​10.​1016/​j.​modpat.​2023.​100359CrossRefPubMed
18.
go back to reference Cordier F, Van der Meulen J, Van Gaever B, Lapeire L, Sys G, Van Dorpe J, Creytens D (2022) Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion identified by RNA-based next-generation sequencing. Genes Chromosomes Cancer 61(1):44–49PubMedCrossRef Cordier F, Van der Meulen J, Van Gaever B, Lapeire L, Sys G, Van Dorpe J, Creytens D (2022) Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion identified by RNA-based next-generation sequencing. Genes Chromosomes Cancer 61(1):44–49PubMedCrossRef
19.
go back to reference Parrack PH, Mariño-Enríquez A, Fletcher CDM, Hornick JL, Papke DJ Jr (2023) GLI1 immunohistochemistry distinguishes mesenchymal neoplasms with GLI1 alterations from morphologic mimics. Am J Surg Pathol 47:453–460PubMedCrossRef Parrack PH, Mariño-Enríquez A, Fletcher CDM, Hornick JL, Papke DJ Jr (2023) GLI1 immunohistochemistry distinguishes mesenchymal neoplasms with GLI1 alterations from morphologic mimics. Am J Surg Pathol 47:453–460PubMedCrossRef
20.
go back to reference Baumhoer D, Amary F, Flanagan AM (2019) An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing. Genes Chromosomes Cancer 58(2):88–99PubMedCrossRef Baumhoer D, Amary F, Flanagan AM (2019) An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing. Genes Chromosomes Cancer 58(2):88–99PubMedCrossRef
21.
go back to reference Cordier F, Creytens D (2023) New kids on the block: FOS and FOSB gene. J Clin Pathol 76(11):721–726PubMedCrossRef Cordier F, Creytens D (2023) New kids on the block: FOS and FOSB gene. J Clin Pathol 76(11):721–726PubMedCrossRef
23.
go back to reference Wen X, Cimera R, Aryeequaye R, Abhinta M, Athanasian E, Healey J, Fabbri N, Boland P, Zhang Y, Hameed M (2021) Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: a clinicopathological and molecular analysis. Genes Chromosomes Cancer 60(12):796–807PubMedPubMedCentralCrossRef Wen X, Cimera R, Aryeequaye R, Abhinta M, Athanasian E, Healey J, Fabbri N, Boland P, Zhang Y, Hameed M (2021) Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: a clinicopathological and molecular analysis. Genes Chromosomes Cancer 60(12):796–807PubMedPubMedCentralCrossRef
24.
go back to reference Italiano A, Di Mauro I, Rapp J, Pierron G, Auger N, Alberti L, Chibon F, Escande F, Voegeli AC, Ghnassia JP, Keslair F, Laé M, Ranchère-Vince D, Terrier P, Baffert S, Coindre JM, Pedeutour F (2016) Clinical effect of molecular methods in sarcoma diagnosis (GENSARC): a prospective, multicentre, observational study. Lancet Oncol 17(4):532–538PubMedCrossRef Italiano A, Di Mauro I, Rapp J, Pierron G, Auger N, Alberti L, Chibon F, Escande F, Voegeli AC, Ghnassia JP, Keslair F, Laé M, Ranchère-Vince D, Terrier P, Baffert S, Coindre JM, Pedeutour F (2016) Clinical effect of molecular methods in sarcoma diagnosis (GENSARC): a prospective, multicentre, observational study. Lancet Oncol 17(4):532–538PubMedCrossRef
25.
go back to reference Bovée JV, Hogendoorn PC (2010) Molecular pathology of sarcomas: concepts and clinical implications. Virchows Arch 456(2):193–199PubMedCrossRef Bovée JV, Hogendoorn PC (2010) Molecular pathology of sarcomas: concepts and clinical implications. Virchows Arch 456(2):193–199PubMedCrossRef
26.
go back to reference Vyse S, Thway K, Huang PH, Jones RL (2021) Next-generation sequencing for the management of sarcomas with no known driver mutations. Curr Opin Oncol 33(4):315–322PubMedCrossRef Vyse S, Thway K, Huang PH, Jones RL (2021) Next-generation sequencing for the management of sarcomas with no known driver mutations. Curr Opin Oncol 33(4):315–322PubMedCrossRef
27.
go back to reference Chang KTE, Goytain A, Tucker T, Karsan A, Lee CH, Nielsen TO, Ng TL (2018) Development and evaluation of a pan-sarcoma fusion gene detection assay using the NanoString nCounter platform. J Mol Diagn 20(1):63–77PubMedCrossRef Chang KTE, Goytain A, Tucker T, Karsan A, Lee CH, Nielsen TO, Ng TL (2018) Development and evaluation of a pan-sarcoma fusion gene detection assay using the NanoString nCounter platform. J Mol Diagn 20(1):63–77PubMedCrossRef
28.
go back to reference Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, Blattner M, Worst B, Heilig CE, Beck K, Horak P, Kreutzfeldt S, Paff E, Stark S, Johann P, Selt F, Ecker J, Sturm D, Pajtler KW, Reinhardt A, Wefers AK, Sievers P, Ebrahimi A, Suwala A, Fernández-Klett F, Casalini B, Korshunov A, Hovestadt V, Kommoss FKF, Kriegsmann M, Schick M, Bewerunge-Hudler M, Milde T, Witt O, Kulozik AE, Kool M, Romero-Pérez L, Grünewald TGP, Kirchner T, Wick W, Platten M, Unterberg A, Uhl M, Abdollahi A, Debus J, Lehner B, Thomas C, Hasselblatt M, Paulus W, Hartmann C, Staszewski O, Prinz M, Hench J, Frank S, Versleijen-Jonkers YMH, Weidema ME, Mentzel T, Griewank K, de Álava E, Martín JD, Gastearena MAI, Chang KT, Low SYY, Cuevas-Bourdier A, Mittelbronn M, Mynarek M, Rutkowski S, Schüller U, Mautner VF, Schittenhelm J, Serrano J, Snuderl M, Büttner R, Klingebiel T, Buslei R, Gessler M, Wesseling P, Dinjens WNM, Brandner S, Jaunmuktane Z, Lyskjær I, Schirmacher P, Stenzinger A, Brors B, Glimm H, Heining C, Tirado OM, Sáinz-Jaspeado M, Mora J, Alonso J, Del Muro XG, Moran S, Esteller M, Benhamida JK, Ladanyi M, Wardelmann E, Antonescu C, Flanagan A, Dirksen U, Hohenberger P, Baumhoer D, Hartmann W, Vokuhl C, Flucke U, Petersen I, Mechtersheimer G, Capper D, Jones DTW, Fröhling S, Pfister SM, von Deimling A (2021) Sarcoma classification by DNA methylation profiling. Nat Commun 12(1):498PubMedPubMedCentralCrossRef Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, Blattner M, Worst B, Heilig CE, Beck K, Horak P, Kreutzfeldt S, Paff E, Stark S, Johann P, Selt F, Ecker J, Sturm D, Pajtler KW, Reinhardt A, Wefers AK, Sievers P, Ebrahimi A, Suwala A, Fernández-Klett F, Casalini B, Korshunov A, Hovestadt V, Kommoss FKF, Kriegsmann M, Schick M, Bewerunge-Hudler M, Milde T, Witt O, Kulozik AE, Kool M, Romero-Pérez L, Grünewald TGP, Kirchner T, Wick W, Platten M, Unterberg A, Uhl M, Abdollahi A, Debus J, Lehner B, Thomas C, Hasselblatt M, Paulus W, Hartmann C, Staszewski O, Prinz M, Hench J, Frank S, Versleijen-Jonkers YMH, Weidema ME, Mentzel T, Griewank K, de Álava E, Martín JD, Gastearena MAI, Chang KT, Low SYY, Cuevas-Bourdier A, Mittelbronn M, Mynarek M, Rutkowski S, Schüller U, Mautner VF, Schittenhelm J, Serrano J, Snuderl M, Büttner R, Klingebiel T, Buslei R, Gessler M, Wesseling P, Dinjens WNM, Brandner S, Jaunmuktane Z, Lyskjær I, Schirmacher P, Stenzinger A, Brors B, Glimm H, Heining C, Tirado OM, Sáinz-Jaspeado M, Mora J, Alonso J, Del Muro XG, Moran S, Esteller M, Benhamida JK, Ladanyi M, Wardelmann E, Antonescu C, Flanagan A, Dirksen U, Hohenberger P, Baumhoer D, Hartmann W, Vokuhl C, Flucke U, Petersen I, Mechtersheimer G, Capper D, Jones DTW, Fröhling S, Pfister SM, von Deimling A (2021) Sarcoma classification by DNA methylation profiling. Nat Commun 12(1):498PubMedPubMedCentralCrossRef
29.
go back to reference Iluz A, Maoz M, Lavi N, Charbit H, Or O, Olshinka N, Demma JA, Adileh M, Wygoda M, Blumenfeld P, Gliner-Ron M, Azraq Y, Moss J, Peretz T, Eden A, Zick A, Lavon I (2023) Rapid classification of sarcomas using methylation fingerprint: a pilot study. Cancers (Basel) 15(16):4168PubMedCrossRef Iluz A, Maoz M, Lavi N, Charbit H, Or O, Olshinka N, Demma JA, Adileh M, Wygoda M, Blumenfeld P, Gliner-Ron M, Azraq Y, Moss J, Peretz T, Eden A, Zick A, Lavon I (2023) Rapid classification of sarcomas using methylation fingerprint: a pilot study. Cancers (Basel) 15(16):4168PubMedCrossRef
30.
go back to reference Bovée JVMG, Webster F, Amary F, Baumhoer D, Bloem JLH, Bridge JA, Cates JMM, de Alava E, Dei Tos AP, Jones KB, Mahar A, Nielsen GP, Righi A, Wagner AJ, Yoshida A, Fletcher CDM (2023) Datasets for the reporting of primary tumour in bone: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology 82(4):531–540PubMedCrossRef Bovée JVMG, Webster F, Amary F, Baumhoer D, Bloem JLH, Bridge JA, Cates JMM, de Alava E, Dei Tos AP, Jones KB, Mahar A, Nielsen GP, Righi A, Wagner AJ, Yoshida A, Fletcher CDM (2023) Datasets for the reporting of primary tumour in bone: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology 82(4):531–540PubMedCrossRef
32.
go back to reference Marcilla D, Machado I, Grünewald TGP, Llombart-Bosch A, de Álava E (2021) (Immuno)histological analysis of Ewing sarcoma. Methods Mol Biol 2226:49–64PubMedCrossRef Marcilla D, Machado I, Grünewald TGP, Llombart-Bosch A, de Álava E (2021) (Immuno)histological analysis of Ewing sarcoma. Methods Mol Biol 2226:49–64PubMedCrossRef
33.
go back to reference Blanchi J, Taleb S, Bayle A, Verret B, Toulmonde M, Spalato-Ceruso M, Dubos P, Laizet Y, Alame M, Khalifa E, Italiano A (2023) Clinical utility of circulating tumor DNA sequencing with a large panel in patients with advanced soft-tissue sarcomas. Cancer Commun (Lond) 43(9):1051–1054PubMedCrossRef Blanchi J, Taleb S, Bayle A, Verret B, Toulmonde M, Spalato-Ceruso M, Dubos P, Laizet Y, Alame M, Khalifa E, Italiano A (2023) Clinical utility of circulating tumor DNA sequencing with a large panel in patients with advanced soft-tissue sarcomas. Cancer Commun (Lond) 43(9):1051–1054PubMedCrossRef
34.
go back to reference Grünewald TG, Alonso M, Avnet S, Banito A, Burdach S, Cidre-Aranaz F, Di Pompo G, Distel M, Dorado-Garcia H, Garcia-Castro J, González-González L, Grigoriadis AE, Kasan M, Koelsche C, Krumbholz M, Lecanda F, Lemma S, Longo DL, Madrigal-Esquivel C, Morales-Molina Á, Musa J, Ohmura S, Ory B, Pereira-Silva M, Perut F, Rodriguez R, Seeling C, Al Shaaili N, Shaabani S, Shiavone K, Sinha S, Tomazou EM, Trautmann M, Vela M, Versleijen-Jonkers YM, Visgauss J, Zalacain M, Schober SJ, Lissat A, English WR, Baldini N, Heymann D (2020) Sarcoma treatment in the era of molecular medicine. EMBO Mol Med 12(11):e11131PubMedPubMedCentralCrossRef Grünewald TG, Alonso M, Avnet S, Banito A, Burdach S, Cidre-Aranaz F, Di Pompo G, Distel M, Dorado-Garcia H, Garcia-Castro J, González-González L, Grigoriadis AE, Kasan M, Koelsche C, Krumbholz M, Lecanda F, Lemma S, Longo DL, Madrigal-Esquivel C, Morales-Molina Á, Musa J, Ohmura S, Ory B, Pereira-Silva M, Perut F, Rodriguez R, Seeling C, Al Shaaili N, Shaabani S, Shiavone K, Sinha S, Tomazou EM, Trautmann M, Vela M, Versleijen-Jonkers YM, Visgauss J, Zalacain M, Schober SJ, Lissat A, English WR, Baldini N, Heymann D (2020) Sarcoma treatment in the era of molecular medicine. EMBO Mol Med 12(11):e11131PubMedPubMedCentralCrossRef
35.
go back to reference Wilding CP, Elms ML, Judson I, Tan AC, Jones RL, Huang PH (2019) The landscape of tyrosine kinase inhibitors in sarcomas: looking beyond pazopanib. Expert Rev Anticancer Ther 19(11):971–991PubMedPubMedCentralCrossRef Wilding CP, Elms ML, Judson I, Tan AC, Jones RL, Huang PH (2019) The landscape of tyrosine kinase inhibitors in sarcomas: looking beyond pazopanib. Expert Rev Anticancer Ther 19(11):971–991PubMedPubMedCentralCrossRef
36.
go back to reference Péron J, Marreaud S, Staelens D, Raveloarivahy T, Nzokirantevye A, Flament J, Steuve J, Lia M, Collette L, Schöffski P (2019) A multinational, multi-tumour basket study in very rare cancer types: the European Organization for Research and Treatment of Cancer phase II 90101 ‘CREATE’ trial. Eur J Cancer 109:192–195PubMedCrossRef Péron J, Marreaud S, Staelens D, Raveloarivahy T, Nzokirantevye A, Flament J, Steuve J, Lia M, Collette L, Schöffski P (2019) A multinational, multi-tumour basket study in very rare cancer types: the European Organization for Research and Treatment of Cancer phase II 90101 ‘CREATE’ trial. Eur J Cancer 109:192–195PubMedCrossRef
37.
go back to reference Cardoso E, Guidi M, Blanchet B, Schneider MP, Decosterd LA, Buclin T, Csajka C, Widmer N (2020) Therapeutic drug monitoring of targeted anticancer protein kinase inhibitors in routine clinical use: a critical review. Ther Drug Monit 42(1):33–44PubMedCrossRef Cardoso E, Guidi M, Blanchet B, Schneider MP, Decosterd LA, Buclin T, Csajka C, Widmer N (2020) Therapeutic drug monitoring of targeted anticancer protein kinase inhibitors in routine clinical use: a critical review. Ther Drug Monit 42(1):33–44PubMedCrossRef
38.
go back to reference Berclaz LM, Burkhard-Meier A, Lange P, Di Gioia D, Schmidt M, Knösel T, Klauschen F, von Bergwelt-Baildon M, Heinemann V, Greif PA, Westphalen CB, Heinrich K, Lindner LH (2023) Implementing precision oncology for sarcoma patients: the CCCLMUmolecular tumor board experience. J Cancer Res Clin Oncol 149(15):13973–13983PubMedPubMedCentralCrossRef Berclaz LM, Burkhard-Meier A, Lange P, Di Gioia D, Schmidt M, Knösel T, Klauschen F, von Bergwelt-Baildon M, Heinemann V, Greif PA, Westphalen CB, Heinrich K, Lindner LH (2023) Implementing precision oncology for sarcoma patients: the CCCLMUmolecular tumor board experience. J Cancer Res Clin Oncol 149(15):13973–13983PubMedPubMedCentralCrossRef
40.
go back to reference Gounder MM, Agaram NP, Trabucco SE, Robinson V, Ferraro RA, Millis SZ, Krishnan A, Lee J, Attia S, Abida W, Drilon A, Chi P, Angelo SP, Dickson MA, Keohan ML, Kelly CM, Agulnik M, Chawla SP, Choy E, Chugh R, Meyer CF, Myer PA, Moore JL, Okimoto RA, Pollock RE, Ravi V, Singh AS, Somaiah N, Wagner AJ, Healey JH, Frampton GM, Venstrom JM, Ross JS, Ladanyi M, Singer S, Brennan MF, Schwartz GK, Lazar AJ, Thomas DM, Maki RG, Tap WD, Ali SM, Jin DX (2022) Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma. Nat Commun 13(1):3406PubMedPubMedCentralCrossRef Gounder MM, Agaram NP, Trabucco SE, Robinson V, Ferraro RA, Millis SZ, Krishnan A, Lee J, Attia S, Abida W, Drilon A, Chi P, Angelo SP, Dickson MA, Keohan ML, Kelly CM, Agulnik M, Chawla SP, Choy E, Chugh R, Meyer CF, Myer PA, Moore JL, Okimoto RA, Pollock RE, Ravi V, Singh AS, Somaiah N, Wagner AJ, Healey JH, Frampton GM, Venstrom JM, Ross JS, Ladanyi M, Singer S, Brennan MF, Schwartz GK, Lazar AJ, Thomas DM, Maki RG, Tap WD, Ali SM, Jin DX (2022) Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma. Nat Commun 13(1):3406PubMedPubMedCentralCrossRef
41.
go back to reference Flaherty KT, Gray R, Chen A, Li S, Patton D, Hamilton SR, Williams PM, Mitchell EP, Iafrate AJ, Sklar J, Harris LN, McShane LM, Rubinstein LV, Sims DJ, Routbort M, Coffey B, Fu T, Zwiebel JA, Little RF, Marinucci D, Catalano R, Magnan R, Kibbe W, Weil C, Tricoli JV, Alexander B, Kumar S, Schwartz GK, Meric-Bernstam F, Lih CJ, McCaskill-Stevens W, Caimi P, Takebe N, Datta V, Arteaga CL, Abrams JS, Comis R, O’Dwyer PJ, Conley BA, NCI-MATCH Team (2020) The Molecular Analysis for Therapy Choice (NCI-MATCH) trial: lessons for genomic trial design. J Natl Cancer Inst 112(10):1021–1029PubMedPubMedCentralCrossRef Flaherty KT, Gray R, Chen A, Li S, Patton D, Hamilton SR, Williams PM, Mitchell EP, Iafrate AJ, Sklar J, Harris LN, McShane LM, Rubinstein LV, Sims DJ, Routbort M, Coffey B, Fu T, Zwiebel JA, Little RF, Marinucci D, Catalano R, Magnan R, Kibbe W, Weil C, Tricoli JV, Alexander B, Kumar S, Schwartz GK, Meric-Bernstam F, Lih CJ, McCaskill-Stevens W, Caimi P, Takebe N, Datta V, Arteaga CL, Abrams JS, Comis R, O’Dwyer PJ, Conley BA, NCI-MATCH Team (2020) The Molecular Analysis for Therapy Choice (NCI-MATCH) trial: lessons for genomic trial design. J Natl Cancer Inst 112(10):1021–1029PubMedPubMedCentralCrossRef
42.
go back to reference Casali PG, Abecassis N, Aro HT, Bauer S, Biagini R, Bielack S, Bonvalot S, Boukovinas I, Bovee JVMG, Brodowicz T et al (2018) Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 29:iv68–iv78PubMedCrossRef Casali PG, Abecassis N, Aro HT, Bauer S, Biagini R, Bielack S, Bonvalot S, Boukovinas I, Bovee JVMG, Brodowicz T et al (2018) Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 29:iv68–iv78PubMedCrossRef
43.
go back to reference Lanzi C, Dal Bo L, Favini E, Tortoreto M, Beretta GL, Arrighetti N, Zaffaroni N, Cassinelli G (2019) Overactive IGF1/insulin receptors and NRASQ61R mutation drive mechanisms of resistance to pazopanib and define rational combination strategies to treat synovial sarcoma. Cancers (Basel) 11(3):408PubMedCrossRef Lanzi C, Dal Bo L, Favini E, Tortoreto M, Beretta GL, Arrighetti N, Zaffaroni N, Cassinelli G (2019) Overactive IGF1/insulin receptors and NRASQ61R mutation drive mechanisms of resistance to pazopanib and define rational combination strategies to treat synovial sarcoma. Cancers (Basel) 11(3):408PubMedCrossRef
44.
go back to reference Demetri GD, Antonescu CR, Bjerkehagen B, Bovée JVMG, Boye K, Chacón M, Dei Tos AP, Desai J, Fletcher JA, Gelderblom H, George S, Gronchi A, Haas RL, Hindi N, Hohenberger P, Joensuu H, Jones RL, Judson I, Kang YK, Kawai A, Lazar AJ, Le Cesne A, Maestro R, Maki RG, Martín J, Patel S, Penault-Llorca F, Premanand Raut C, Rutkowski P, Safwat A, Sbaraglia M, Schaefer IM, Shen L, Serrano C, Schöffski P, Stacchiotti S, Sundby Hall K, Tap WD, Thomas DM, Trent J, Valverde C, van der Graaf WTA, von Mehren M, Wagner A, Wardelmann E, Naito Y, Zalcberg J, Blay JY (2020) Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network. Ann Oncol 31(11):1506–1517PubMedCrossRef Demetri GD, Antonescu CR, Bjerkehagen B, Bovée JVMG, Boye K, Chacón M, Dei Tos AP, Desai J, Fletcher JA, Gelderblom H, George S, Gronchi A, Haas RL, Hindi N, Hohenberger P, Joensuu H, Jones RL, Judson I, Kang YK, Kawai A, Lazar AJ, Le Cesne A, Maestro R, Maki RG, Martín J, Patel S, Penault-Llorca F, Premanand Raut C, Rutkowski P, Safwat A, Sbaraglia M, Schaefer IM, Shen L, Serrano C, Schöffski P, Stacchiotti S, Sundby Hall K, Tap WD, Thomas DM, Trent J, Valverde C, van der Graaf WTA, von Mehren M, Wagner A, Wardelmann E, Naito Y, Zalcberg J, Blay JY (2020) Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network. Ann Oncol 31(11):1506–1517PubMedCrossRef
45.
go back to reference Estupiñán Ó, Rey V, Tornín J, Murillo D, Gallego B, Huergo C, Blanco-Lorenzo V, Victoria González M, Rodríguez A, Moris F, González J, Ayllón V, Ramos-Mejía V, Bigas A, Rodríguez R (2023) Abrogation of stemness in osteosarcoma by the mithramycin analog EC-8042 is mediated by its ability to inhibit NOTCH-1 signaling. Biomed Pharmacother 162:114627PubMedCrossRef Estupiñán Ó, Rey V, Tornín J, Murillo D, Gallego B, Huergo C, Blanco-Lorenzo V, Victoria González M, Rodríguez A, Moris F, González J, Ayllón V, Ramos-Mejía V, Bigas A, Rodríguez R (2023) Abrogation of stemness in osteosarcoma by the mithramycin analog EC-8042 is mediated by its ability to inhibit NOTCH-1 signaling. Biomed Pharmacother 162:114627PubMedCrossRef
46.
go back to reference Stenzinger A, Alber M, Allgäuer M, Jurmeister P, Bockmayr M, Budczies J, Lennerz J, Eschrich J, Kazdal D, Schirmacher P, Wagner AH, Tacke F, Capper D, Müller KR, Klauschen F (2022) Artificial intelligence and pathology: from principles to practice and future applications in histomorphology and molecular profiling. Semin Cancer Biol 84:129–143PubMedCrossRef Stenzinger A, Alber M, Allgäuer M, Jurmeister P, Bockmayr M, Budczies J, Lennerz J, Eschrich J, Kazdal D, Schirmacher P, Wagner AH, Tacke F, Capper D, Müller KR, Klauschen F (2022) Artificial intelligence and pathology: from principles to practice and future applications in histomorphology and molecular profiling. Semin Cancer Biol 84:129–143PubMedCrossRef
48.
go back to reference Martin S, Clark SE, Gerrand C, Gilchrist K, Lawal M, Maio L, Martins A, Storey L, Taylor RM, Wells M, Whelan JS, Windsor R, Woodford J, Vindrola-Padros C, Fern LA (2023) Patients’ experiences of a sarcoma diagnosis: a process mapping exercise of diagnostic pathways. Cancers (Basel) 15(15):3946PubMedCrossRef Martin S, Clark SE, Gerrand C, Gilchrist K, Lawal M, Maio L, Martins A, Storey L, Taylor RM, Wells M, Whelan JS, Windsor R, Woodford J, Vindrola-Padros C, Fern LA (2023) Patients’ experiences of a sarcoma diagnosis: a process mapping exercise of diagnostic pathways. Cancers (Basel) 15(15):3946PubMedCrossRef
Metadata
Title
Current challenges and practical aspects of molecular pathology for bone and soft tissue tumors
Author
Enrique de Álava
Publication date
16-01-2024
Publisher
Springer Berlin Heidelberg
Published in
Virchows Archiv / Issue 2/2024
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-024-03736-5

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