Markus Eszlinger
Markus Eszlinger
Departments of Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada
Institute of Pathology, University Hospital Halle (Saale), Halle (Saale), Germany
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Institute of Pathology, University Hospital Halle (Saale), Halle (Saale), Germany
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Paul Stewardson
Paul Stewardson
Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada
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John B McIntyre
John B McIntyre
Precision Oncology Hub Laboratory, Alberta Health Services, Tom Baker Cancer Centre, Calgary, Alberta, Canada
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Adrian Box
Adrian Box
Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Moosa Khalil
Moosa Khalil
Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Martin Hyrcza
Martin Hyrcza
Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Konstantin Koro
Konstantin Koro
Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Dean Ruether
Dean Ruether
Section of Medical Oncology, Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Jiahui Wu
Jiahui Wu
Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada
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Ralf Paschke
Ralf Paschke
Departments of Medicine, Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada
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mutation-positive medullary thyroid cancer (MTC) or RET gene fusion-positive thyroid cancer. The early approval of these drugs was based on phase 1/2 data ( 1 , 2 , 3 , 4 , 5 ). Patients with thyroid cancer were one of the larger patient groups in the
Abdul Rehman Syed
Abdul Rehman Syed
University of Calgary, Calgary, Alberta, Canada
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Aakash Gorana
Aakash Gorana
Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada
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Erik Nohr
Erik Nohr
Alberta Precision Laboratories, Molecular Pathology Program, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
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Xiaoli-Kat Yuan
Xiaoli-Kat Yuan
Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada
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Parthiv Amin MASc
Parthiv Amin MASc
Department of Radiology, Cumming School of Medicine, University of Calgary, Calgary Alberta, Canada
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Sana Ghaznavi
Sana Ghaznavi
Arnie Charbonneau Cancer Institute, Department of Medicine, Section of Endocrinology, University of Calgary, Calgary, Alberta, Canada
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Debbie Lamb
Debbie Lamb
Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada
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John McIntyre
John McIntyre
Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada
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Markus Eszlinger
Markus Eszlinger
Department of Oncology, Cumming School of Medicine, and Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada
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Ralf Paschke
Ralf Paschke
Departments of Medicine, Section of Endocrinology, Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
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) pathway for the large majority of PTCs ( 5 ). Among this cohort, BRAF V600E mutation was present in nearly 60% of PTCs, followed by HRAS and NRAS mutations in 10% of cases and RET fusions in ~5% of cases ( 5 ). Therapeutic approaches that inhibit
Min Ren
Min Ren
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Qianlan Yao
Qianlan Yao
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Longlong Bao
Longlong Bao
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Zhiting Wang
Zhiting Wang
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Ran Wei
Ran Wei
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Qianming Bai
Qianming Bai
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Bo Ping
Bo Ping
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Cai Chang
Cai Chang
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China
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Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China
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Yu Wang
Yu Wang
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Xiaoyan Zhou
Xiaoyan Zhou
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Xiaoli Zhu
Xiaoli Zhu
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
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.1%), NRAS gene (2.3%), TP53 (1.8%), and NTRK3 fusions (1.4%). The detailed overall mutation profiling was shown in Fig. 1 . Figure 1 Mutation profiling of 217 surgical resection samples by multigene NGS testing. Mutated genes included BRAF, RET
Rachelle P Mendoza
Rachelle P Mendoza
Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA
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Richard Cody Simon
Richard Cody Simon
Department of Pathology, University of Chicago, Chicago, Illinois, USA
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Nicole A Cipriani
Nicole A Cipriani
Department of Pathology, University of Chicago, Chicago, Illinois, USA
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Tatjana Antic
Tatjana Antic
Department of Pathology, University of Chicago, Chicago, Illinois, USA
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resected and had a benign final diagnosis. Two were atypical on repeat FNA. One was resected, showed a CCDC6::RET fusion on molecular analysis of FFPE tissue, and was diagnosed as papillary thyroid carcinoma ( Fig. 3 ). The malignancy rate for multiple
Francesca Carlomagno
Francesca Carlomagno
Dipartimento di Biologia e Patologia Cellulare e Molecolare L. Califano, Università degli Studi di Napoli Federico II, Napoli, Italia
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renewal and differentiation [ 6 , 16 ]. In accordance, individuals with germline loss-of-function mutations of RET are affected by congenital megacolon or Hirschsprung disease characterized by intestinal aganglionosis [ 17 ]. Gain-of-function mutations
Ségolène Hescot
Ségolène Hescot
Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France
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Julien Masliah-Planchon
Julien Masliah-Planchon
Department of Genetics, Institut Curie, Paris, France
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Pauline du Rusquec
Pauline du Rusquec
Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France
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Célia Dupain
Célia Dupain
Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France
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Maud Kamal
Maud Kamal
Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France
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Vincent Servois
Vincent Servois
Department of Radiology, Institut Curie, Paris, France
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Ivan Bieche
Ivan Bieche
Department of Genetics, Institut Curie, Paris, France
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cancers with RET gene mutations or fusions ( 3 , 4 ). In MTC patients, phase I/II studies with RET inhibitors reported overall response rates of 73% and phase III studies are ongoing ( 5 , 6 ). Here, we describe the case of a patient with metastatic
Marine Sitbon
Marine Sitbon
Pharmacy Department, Hospital Saint-Louis APHP, Paris, France
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Porhuoy Chou
Porhuoy Chou
Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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Seydou Bengaly
Seydou Bengaly
Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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Brigitte Poirot
Brigitte Poirot
Department of Molecular Oncology, Saint-Louis Hospital (AP-HP), Université Paris Cité INSERM U 944, CNRS UMR 7212, Paris, France
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Marie Laloi-Michelin
Marie Laloi-Michelin
Department of Internal Medicine, Hospital Lariboisière APHP, Paris, France
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Laure Deville
Laure Deville
Pharmacy Department, Hospital Saint-Louis APHP, Paris, France
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Atanas Pachev
Atanas Pachev
Radiology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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Ahouefa Kowo-Bille
Ahouefa Kowo-Bille
Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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Clement Dumont
Clement Dumont
Medical Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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Cécile N Chougnet
Cécile N Chougnet
Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France
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in patients with RET intratumoral mutation MTC and RET fusion-positive differentiated thyroid cancers ( 1 , 4 ). Here, we report a case of rapid and long-lasting resolution on selpercatinib of a paraneoplastic Cushing’s syndrome associated with
Grace Segall
Grace Segall
Eli Lilly and Company, Indianapolis, IN, USA
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Ravinder Singh
Ravinder Singh
Eli Lilly and Company, Indianapolis, IN, USA
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Min-Hua Jen
Min-Hua Jen
Eli Lilly and Company, Indianapolis, IN, USA
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Isaac Sanderson
Isaac Sanderson
Adelphi Real World, Bollington, UK
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Alex Rider
Alex Rider
Adelphi Real World, Bollington, UK
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Katie Lewis
Katie Lewis
Adelphi Real World, Bollington, UK
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Urpo Kiiskinen
Urpo Kiiskinen
Eli Lilly and Company, Indianapolis, IN, USA
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reporting ‘suitable for patients with RET gene mutation/fusion’ as a reason to prescribe MKIs to RET mutation-positive patients. The most common reasons for prescribing MKIs in the overall population were PFS/OS benefits, recommended by national
Fabio Hecht
Fabio Hecht
Université Paris-Saclay, Orsay, France
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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Laura Valerio
Laura Valerio
Université Paris-Saclay, Orsay, France
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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Carlos Frederico Lima Gonçalves
Carlos Frederico Lima Gonçalves
Université Paris-Saclay, Orsay, France
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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Marylin Harinquet
Marylin Harinquet
Université Paris-Saclay, Orsay, France
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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Rabii Ameziane El Hassani
Rabii Ameziane El Hassani
Laboratoire de Biologie des Pathologies Humaines ‘BioPatH’, Université Mohammed V de Rabat, Faculté des Sciences, BP1014 Rabat, 10001, Morocco
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Denise P Carvalho
Denise P Carvalho
Laboratório de Fisiologia Endócrina Doris Rosenthal, nstituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
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Stephane Koundrioukoff
Stephane Koundrioukoff
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
Sorbonne Université, Paris, France
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Gustave Roussy, Villejuif, France
Sorbonne Université, Paris, France
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Jean-Charles Cadoret
Jean-Charles Cadoret
Université Paris Cité, CNRS, Institut Jacques Monod, Paris, France
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Corinne Dupuy
Corinne Dupuy
Université Paris-Saclay, Orsay, France
UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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UMR 9019 CNRS F-94805 Villejuif, France
Gustave Roussy, Villejuif, France
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papillary, with a RET/PTC chromosomal rearrangement found in 70% of cases ( 2 ). RET/PTC1 , the most prevalent type of RET/PTC rearrangement, is an intra-chromosomal paracentric inversion that results in a fusion between the 3′ portion of the RET
Hélène Théodon
Hélène Théodon
Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Erell Guillerm
Erell Guillerm
Department of Oncogenetic, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Johanna Wassermann
Johanna Wassermann
Department of Oncology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Gabrielle Deniziaut
Gabrielle Deniziaut
Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Loïc Jaffrelot
Loïc Jaffrelot
Department of Oncology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Jérome Denis
Jérome Denis
Department of Endocrine and Oncology Biochemistry, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France
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Nathalie Chereau
Nathalie Chereau
Department of Endocrine Surgery, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Claude Bigorgne
Claude Bigorgne
Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Wiame Potonnier
Wiame Potonnier
Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Florence Coulet
Florence Coulet
Department of Oncogenetic, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Laurence Leenhardt
Laurence Leenhardt
Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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Camille Buffet
Camille Buffet
Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France
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, 2 ). Today, tumor molecular genotyping plays a key role in the management of radioactive iodine refractory (RAIR) thyroid cancers, as patients with cancers harboring a specific mutation or fusion can be offered highly specific targeted therapies ( 3
