Key Publications

2023

Kaur G, Sabatine MS, Schaefer IM, Sun YP, Loscalzo J. Encased in Peril. N Engl J Med. 2023 Nov 2;389(18):1709-1716.
Giannikou K, Klonowska K, Tsuji J, Wu S, Zhu Z, Probst CK, Kao KZ, Wu CL, Rodig S, Marino-Enriquez A, Zen Y, Schaefer IM, Kwiatkowski DJ. TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas. Histopathology. 2023 Oct;83(4):569-581.
Schaefer IM, Mariño-Enríquez A, Hammer MM, Padera RF, Sholl LM. Recurrent Tumor Suppressor Alterations in Primary Pericardial Mesothelioma. Mod Pathol. 2023 Jun 8;36(9):100237.
Schaefer IM, Qian X. The roles of the SWI/SNF complex in cancer. Cancer Cytopathol. 2023 Jul;131(7):410-414.
Stacchiotti S, Dürr HR, Schaefer IM, Woertler K, Haas R, Trama A, Caraceni A, Bajpai J, Baldi GG, Bernthal N, Blay JY, Boye K, Broto JM, Chen WT, Dei Tos PA, Desai J, Emhofer S, Eriksson M, Gronchi A, Gelderblom H, Hardes J, Hartmann W, Healey J, Italiano A, Jones RL, Kawai A, Leithner A, Loong H, Mascard E, Morosi C, Otten N, Palmerini E, Patel SR, Reichardt P, Rubin B, Rutkowski P, Sangalli C, Schuster K, Seddon BM, Shkodra M, Staals EL, Tap W, van de Rijn M, van Langevelde K, Vanhoenacker FMM, Wagner A, Wiltink L, Stern S, Van de Sande VM, Bauer S. Best clinical management of tenosynovial giant cell tumour (TGCT): A consensus paper from the community of experts. Cancer Treat Rev. 2023 Jan;112:102491.

2022

Schaefer IM, Hemming ML, Lundberg MZ, Serrata MP, Goldaracena I, Liu N, Yin P, Paulo JA, Gygi SP, George S, Morgan JA, Bertagnolli MM, Sicinska ET, Chu C, Zheng S, Mariño-Enríquez A, Hornick JL, Raut CP, Ou WB, Demetri GD, Saka SK, Fletcher JA. Concurrent inhibition of CDK2 adds to the anti-tumour activity of CDK4/6 inhibition in GIST. Br J Cancer. 2022 Nov;127(11):2072-2085.
Schaefer IM, Gronchi A. WHO Pathology: Highlights of the 2020 Sarcoma Update. Surg Oncol Clin N Am. 2022 Jul;31(3):321-340.
Schaefer IM, DeMatteo RP, Serrano C. The GIST of Advances in Treatment of Advanced Gastrointestinal Stromal Tumor. Am Soc Clin Oncol Educ Book. 2022 Apr;42:1-15.

2021

Stacchiotti S, Frezza AM, Blay JY, Baldini EH, Bonvalot S, Bovée JVMG, Callegaro D, Casali PG, Chiang RC, Demetri GD, Demicco EG, Desai J, Eriksson M, Gelderblom H, George S, Gounder MM, Gronchi A, Gupta A, Haas RL, Hayes-Jardon A, Hohenberger P, Jones KB, Jones RL, Kasper B, Kawai A, Kirsch DG, Kleinerman ES, Le Cesne A, Lim J, Chirlaque López MD, Maestro R, Marcos-Gragera R, Martin Broto J, Matsuda T, Mir O, Patel SR, Raut CP, Razak ARA, Reed DR, Rutkowski P, Sanfilippo RG, Sbaraglia M, Schaefer IM, Strauss DC, Sundby Hall K, Tap WD, Thomas DM, van der Graaf WTA, van Houdt WJ, Visser O, von Mehren M, Wagner AJ, Wilky BA, Won YJ, Fletcher CDM, Dei Tos AP, Trama A. Ultra-rare sarcomas: A consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities. 2021 Aug 15;127(16):2934-2942.
Schaefer IM, Lundberg MZ, Demicco EG, Przybyl J, Matusiak M, Chibon F, Ingram DR, Hornick JL, Wang WL, Bauer S, Baker LH, Lazar AJ, van de Rijn M, Mariño-Enríquez A, Fletcher JA. Relationships between highly recurrent tumor suppressor alterations in 489 leiomyosarcomas. 2021 Aug 1;127(15):2666-2673.
Lau ES, Scirica B, Schaefer IM, Miller AL, Loscalzo J. Hypertensive Heartbreak. N Engl J Med. 2021 Jun 3;384(22):2145-2152.
Lau ES, Vaidya A, Schaefer IM, Scirica BM. Hypertensive Heartbreak. N Engl J Med. 2021 May 27;384(21):e80.
Schaefer IM, Hornick JL. SWI/SNF complex-deficient soft tissue neoplasms: An update. Semin Diagn Pathol. 2021 May;38(3):222-231.

2020

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. Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network. Ann Oncol. 2020 Nov;31(11):1506-1517.
Papke DJ, Hung YP, Schaefer IM, Bredella MA, Charville GW, Reith JD, Fletcher CDM, Nielsen GP, Hornick JL. Clinicopathologic characterization of malignant chondroblastoma: a neoplasm with locally aggressive behavior and metastatic potential that closely mimics chondroblastoma-like osteosarcoma. Mod Pathol. 2020 Nov;33(11):2295-2306.
Schaefer IM, Hong K, Kalbasi A. How Technology Is Improving the Multidisciplinary Care of Sarcoma. Am Soc Clin Oncol Educ Book. 2020 May;40:445-462.

2019

Schaefer IM, Dong F, Garcia EP, Fletcher CDM, Jo VY. Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors. Am J Surg Pathol. 2019 Jun;43(6):835-843.

2018

Schaefer IM, Hornick JL. Diagnostic Immunohistochemistry for Soft Tissue and Bone Tumors: An Update. Adv Anat Pathol. 2018 Nov;25(6):400-412.
Schaefer IM, Fletcher JA, Nielsen GP, Shih AR, Ferrone ML, Hornick JL, Qian X. Immunohistochemistry for histone H3G34W and H3K36M is highly specific for giant cell tumor of bone and chondroblastoma, respectively, in FNA and core needle biopsy. Cancer Cytopathol. 2018 Aug;126(8):552-566.
Schaefer IM, Dal Cin P, Landry LM, Fletcher CDM, Hanna GJ, French CA. CIC-NUTM1 fusion: A case which expands the spectrum of NUT-rearranged epithelioid malignancies. Genes Chromosomes Cancer. 2018 Sep;57(9):446-451.
Al Hmada Y, Schaefer IM, Fletcher CDM. Hibernoma Mimicking Atypical Lipomatous Tumor: 64 Cases of a Morphologically Distinct Subset. Am J Surg Pathol. 2018 Jul;42(7):951-957.
Schaefer IM, Hornick JL, Bovée JVMG. The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. Lab Invest. 2018 Apr;98(4):414-426
Schaefer IM, Cote GM, Hornick JL. Contemporary Sarcoma Diagnosis, Genetics, and Genomics. J Clin Oncol. 2018 Jan 10;36(2):101-110.
Schaefer IM, Fletcher CDM. Recent advances in the diagnosis of soft tissue tumours. 2018 Jan;50(1):37-48.

2017

Bure I, Braun A, Kayser C, Geddert H, Schaefer IM, Cameron S, Ghadimi MB, Ströbel P, Werner M, Hartmann A, Wiemann S, Agaimy A, Haller F, Moskalev EA. The expression of hematopoietic progenitor cell antigen CD34 is regulated by DNA methylation in a site-dependent manner in gastrointestinal stromal tumours. Int J Cancer. 2017 Dec 1;141(11):2296-2304.
Schaefer IM, Mariño-Enríquez A, Fletcher JA. What is New in Gastrointestinal Stromal Tumor? Adv Anat Pathol. 2017 Sep;24(5):259-267.
Antonescu CR, Owosho AA, Zhang L, Chen S, Deniz K, Huryn JM, Kao YC, Huang SC, Singer S, Tap W, Schaefer IM, Fletcher CD. Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases. Am J Surg Pathol. 2017 Jul;41(7):941-949.
Schaefer IM, Hornick JL, Barysauskas CM, Raut CP, Patel SA, Royce TJ, Fletcher CDM, Baldini EH.Histologic Appearance After Preoperative Radiation Therapy for Soft Tissue Sarcoma: Assessment of the European Organization for Research and Treatment of Cancer-Soft Tissue and Bone Sarcoma Group Response Score. Int J Radiat Oncol Biol Phys. 2017 Jun 1;98(2):375-383.
Schaefer IM, Wang Y, Liang CW, Bahri N, Quattrone A, Doyle L, Mariño-Enríquez A, Lauria A, Zhu M, Debiec-Rychter M, Grunewald S, Hechtman JF, Dufresne A, Antonescu CR, Beadling C, Sicinska ET, van de Rijn M, Demetri GD, Ladanyi M, Corless CL, Heinrich MC, Raut CP, Bauer S, Fletcher JA. MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation. Nat Commun. 2017 Mar 8;8:14674.