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Uterus Carcinosarcoma

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Uterus Carcinosarcoma PATIENT TUMOR TYPE QRF# Uterus carcinosarcoma PPAATIENTTIENT PHYPHYSICIANSICIAN SPECIMEN DISEASE ORDERING PHYSICIAN SPECIMEN SITE NAME MEDICAL FACILITY SPECIMEN ID DATE OF BIRTH ADDITIONAL RECIPIENT SPECIMEN TYPE SEX MEDICAL FACILITY ID DATE OF COLLECTION MEDICAL RECORD # PATHOLOGIST SPECIMEN RECEIVED NO REPORTREPORTABLE ALABLE ALTERATERATIONSTIONS WITH CCOMPOMPANIONANION DIADIAGNOGNOSSTIC (TIC (CDCDx)x) CLAIMS See professional services section for additional information OOTHER ALTHER ALTERATERATIONSTIONS & BIOMARKERS IDENTIFIED Results reported in this section are not prescriptive or conclusive for labeled use of any specific therapeutic product. See professional services section for additional information. MicrMicroossatatellitellite se sttatusatus MS-Stable § NT5C2NT5C2 R367Q TTumor Mutumor Mutational Burational Burdenden 53 Muts/Mb § PIK3CPIK3CAA R88Q AATRXTRX E259* PIK3CPIK3CAA M1043I CCAASP8SP8 E36* PPOLEOLE A456P FBFBXXW7W7 R465C PPTENTEN E7* FHFH splice site 1237-1G>T PPTENTEN S179I HSD3B1HSD3B1 T353M PPTENTEN F341V KDKDM5CM5C E448* RB1RB1 E323* MSH6MSH6 E908* TP53TP53 S127F MSH6MSH6 E1023* TP53TP53 Y327* § Refer to appendix for limitation statements related to detection of any copy number alterations, gene rearrangements, MSI or TMB result in this section. Please refer to appendix for Explanation of Clinical Significance Classification and for variants of unknown significance (VUS). FoundationOne CDx™ (F1CDx) is a next generation sequencing based TABLE 1 in vitro diagnostic device for detection of substitutions, insertion and INDICATIONS BIOMARKER THERAPY deletion alterations (indels), and copy number alterations (CNAs) in EGFR exon 19 deletions and EGFR exon 21 L858R alterations Gilotrif® (Afatinib), Iressa® (Gefitinib), or Tarceva® (Erlotinib) 324 genes and select gene rearrangements, as well as genomic signatures including microsatellite instability (MSI) and tumor Non-small cell EGFR exon 20 T790M alterations Tagrisso® (Osimertinib) lung cancer mutational burden (TMB) using DNA isolated from formalin-fixed (NSCLC) ALK rearrangements Alecensa® (Alectinib), Xalkori® (Crizotinib), or Zykadia® (Ceritinib) paraffin embedded (FFPE) tumor tissue specimens. The test is intended as a companion diagnostic to identify patients who may BRAF V600E Tafinlar® (Dabrafenib) in combination with Mekinist® (Trametinib) benefit from treatment with the targeted therapies listedSAMPLE in Table 1 in BRAF V600E Tafinlar® (Dabrafenib) or Zelboraf® (Vemurafenib) accordance with the approved therapeutic product labeling. Melanoma Mekinist® (Trametinib) or Cotellic® (Cobimetinib) in combination with Zelboraf® BRAF V600E or V600K Additionally, F1CDx is intended to provide tumor mutation profiling to (Vemurafenib) be used by qualified health care professionals in accordance with Herceptin® (Trastuzumab), Kadcyla® (Ado-trastuzumab emtansine), or Perjeta® professional guidelines in oncology for patients with solid malignant Breast cancer ERBB2 (HER2) amplification (Pertuzumab) neoplasms. The F1CDx assay is a single-site assay performed at Foundation Medicine, Inc. KRAS wild-type (absence of mutations in codons 12 and 13) Erbitux® (Cetuximab) Colorectal cancer KRAS wild-type (absence of mutations in exons 2, 3, and 4) and Vectibix® (Panitumumab) NRAS wild type (absence of mutations in exons 2, 3, and 4) Ovarian cancer BRCA1/2 alterations Rubraca® (Rucaparib) ABOUT THE TESTESTT FoundationOne CDx™ is the first FDA-approved broad companion diagnostic for solid tumors. Electronically signed by Jeff Ross, M.D. | Jeffrey Ross, M.D., Medical Director | 27 April 2018 | Foundation Sample PSample Prrepareparaation:tion:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 Medicine, Inc. | 1.888.988.3639 Sample AnalyAnalysis:sis:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 FDA APPROVED CLAIMS - PAGE 1 of 1 PATIENT TUMOR TYPE QRF# Uterus carcinosarcoma Interpretive content on this page and subsequent Biomarker Findings pages is provided as a professional service, and is TTumorumor Mutational BurBurdenden -- TMB-High (53 Muts/Mb) not reviewed or approved by the FDA. MicrMicrosatosatellitellite Statuse Status -- MS-Stable PPAATIENTTIENT Genomic Findings DISEASE For a complete list of the genes assayed, please refer to the Appendix. NAME DATE OF BIRTH FBFBXXW7W7 R465CR465C KDM5CKDM5C E448*E448* SEX PIK3CPIK3CAA M1043I, R88Q MSH6MSH6 E10E1023*,23*, E908* MEDICAL RECORD # PPTENTEN E7*, F34E7*, F341V1V, S179I, S179I NT5C2NT5C2 R36R367Q7Q PHYPHYSICIANSICIAN AATRXTRX E25E259*9* PPOLEOLE A456PA456P ORDERING PHYSICIAN CCASP8ASP8 E36*E36* RB1RB1 E323*E323* MEDICAL FACILITY FHFH splicsplice site 123e 12377--1G>T1G>T TP53TP53 S12S127F7F, Y32, Y327*7* ADDITIONAL RECIPIENT HSD3B1HSD3B1 T353MT353M MEDICAL FACILITY ID PATHOLOGIST 77TTherherapiesapies with CClinicallinical Benefit 3232CClinical Tlinical Trialsrials SPESPECIMENCIMEN 00TTherherapiesapies with Lack of RResponseesponse SPECIMEN SITE SPECIMEN ID SPECIMEN TYPE DATE OF COLLECTION SPECIMEN RECEIVED THERAPIES WITH CLINICAL BENEFIT THERAPIES WITH CLINICAL BENEFIT BIOMARKER FINDINGS (IN P(IN PAATIENT’TIENT’S TUS TUMORMOR TYPE) (IN O(IN OTHER TUTHER TUMORMOR TYPE) Tumor Mutational Burden - TMB-High (53 none Atezolizumab Muts/Mb) Avelumab Durvalumab Nivolumab 10 T10 Trialsrials see psee p..1717 Pembrolizumab Microsatellite status - MS-Stable No therNo therapiesapies or clinical trials. see Biomarker Findings section THERAPIES WITH CLINICAL BENEFIT THERAPIES WITH CLINICAL BENEFIT GENOMIC FINDINGS (IN P(IN PAATIENT’TIENT’S TUS TUMORMOR TYPE) (IN O(IN OTHER TUTHER TUMORMOR TYPE) FBXW7 - R465C none Everolimus 10 T10 Trialsrials see psee p..1919 Temsirolimus PIK3CA - M1043I, R88Q none Everolimus 10 T10 Trialsrials see psee p..2121 Temsirolimus PTEN - E7*, F341V, S179I none Everolimus 14 T14 Trialsrials see psee p..2323 SAMPLETemsirolimus The content provided as a professional service by Foundation Medicine, Inc., has not been reviewed or approved by the FDA. Electronically signed by Jeff Ross, M.D. | Jeffrey Ross, M.D., Medical Director | 27 April 2018 | Foundation Sample PSample Prrepareparaation:tion:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 Medicine, Inc. | 1.888.988.3639 Sample AnalyAnalysis:sis:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 PROFESSIONAL SERVICES - PAGE 1 of 25 PATIENT TUMOR TYPE QRF# Uterus carcinosarcoma GENOMIC FINDINGS WITH NO REPORTABLE THERAPEUTIC OR CLINICAL TRIAL OPTIONS For more information regarding biological and clinical significance, including prognostic, diagnostic, germline, and potential chemosensitivity implications, see the Genomic Alterations section. ATRX E259* p. 7 MSH6 E1023*, E908* p. 9 CASP8 E36* p. 8 NT5C2 R367Q p. 10 FH splice site 1237-1G>T p. 8 POLE A456P p. 10 HSD3B1 T353M p. 9 RB1 E323* p. 11 KDM5C E448* p. 9 TP53 S127F, Y327* p. 11 Note: Genomic alterations detected may be associated with activity of certain FDA approved drugs; however, the agents listed in this report may have varied clinical evidence in the patient’s tumor type. Neither the therapeutic agents nor the trials identified are ranked in order of potential or predicted efficacy for this patient, nor are they ranked in order of level of evidence for this patient’s tumor type. SAMPLE The content provided as a professional service by Foundation Medicine, Inc., has not been reviewed or approved by the FDA. Electronically signed by Jeff Ross, M.D. | Jeffrey Ross, M.D., Medical Director | 27 April 2018 | Foundation Sample PSample Prrepareparaation:tion:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 Medicine, Inc. | 1.888.988.3639 Sample AnalyAnalysis:sis:150 Second St., 1st Floor, Cambridge, MA 02141 ··CLIA: 22D2027531 PROFESSIONAL SERVICES - PAGE 2 of 25 PATIENT TUMOR TYPE QRF# Uterus carcinosarcoma BIOMARKER FINDINGFINDINGSS BIOMARKER who reported sustained partial responses reported in 65% of cases in the TCGA Uterine Tumor Mutational following treatment with pembrolizumab8 or Corpus Endometrioid Carcinoma dataset15; nivolumab9, a patient with hypermutant another study evaluating TMB in endometrial Burden glioblastoma who obtained clinical benefit adenocarcinomas reported that 76% of tumors 16 CACATEGORTEGORYY from pembrolizumab10, and two pediatric had a mutational burden of 0-10.3 muts/Mb . TMB-High (53 Muts/Mb) patients with biallelic mismatch repair Low mutation rate in endometrial carcinomas deficiency (bMMRD)-associated is associated with poorer prognosis15. ultrahypermutant glioblastoma who POPOTENTIALTENTIAL TREATREATMENT STMENT STRATRATEGIESTEGIES experienced clinically and radiologically FINDING SUMMARSUMMARYY 11 On the basis of emerging clinical evidence, significant responses to nivolumab . In Tumor mutation burden (TMB, also known as increased TMB may be associated with greater patients with melanoma, mutational load was mutation load) is a measure of the number of sensitivity to immunotherapeutic agents, associated with long-term clinical benefit from somatic protein-coding base substitution and 1,12 including anti-CTLA-41, anti-PD-L12-4, and ipilimumab and anti-PD-1/anti-PD-L1 insertion/deletion mutations occurring in a 3 anti-PD-1 therapies5-7; FDA-approved agents treatments . For patients with metastatic tumor specimen. TMB is affected by a variety include ipilimumab, atezolizumab, avelumab, urothelial carcinoma, those who responded to of causes, including exposure to mutagens durvalumab, pembrolizumab, and nivolumab. atezolizumab treatment had a significantly such as ultraviolet light in melanoma17-18
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