Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors
Introduction: Multiple primary tumors (MPTs) are defined as two or more separate synchronous or metachronous neoplasms occurring in different sites in the same individual. These tumors differ in histology, as well as primary sites from which they arise. Risk factors associated with the occurrence of...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2018-05-01
|
Series: | Gynecologic Oncology Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578918300286 |
id |
doaj-6e70fb5073294f24a54a2fa8f20d3a78 |
---|---|
record_format |
Article |
spelling |
doaj-6e70fb5073294f24a54a2fa8f20d3a782020-11-25T00:00:23ZengElsevierGynecologic Oncology Reports2352-57892018-05-01249498Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumorsMadhuri Martin0Joshua K. Sabari1Gulisa Turashvili2Darragh F. Halpenny3Hira Rizvi4Natalie Shapnik5Vicky Makker6Gynecologic Medical Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USAThoracic Medical Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USADepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USADepartment of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USADruckenmiller Center for Lung Cancer Research, Memorial Sloan Kettering Cancer Center, New York, NY, USAGynecologic Medical Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USAGynecologic Medical Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA; Corresponding author at: Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 300 East 66th Street, New York, NY 10065, USA.Introduction: Multiple primary tumors (MPTs) are defined as two or more separate synchronous or metachronous neoplasms occurring in different sites in the same individual. These tumors differ in histology, as well as primary sites from which they arise. Risk factors associated with the occurrence of MPTs include germline alterations, exposure to prior cancer therapies, occupational hazards, and lifestyle and behavioral influences. Case report: We present a case of a patient who was diagnosed with four metachronous primary tumors. In 2013, she was diagnosed with serous proliferations associated with psammomatous bodies of primary peritoneal origin (pT3NxM0). This was followed by invasive ductal carcinoma of the breast (stage pT2N0Mx, histological grade III/III) in 2014, melanoma (stage pT2bNxMx) in 2016 that further advanced to the lung and brain in 2017, and a low-grade lung carcinoid in 2017. To better understand the biology of this patient's MPTs, we performed next-generation sequencing (NGS) to assess for both somatic and germline alterations. The treatment course for this patient aims to target the tumor with the strongest prognostic value, namely her malignant melanoma, and has contributed favorably to the overall survival of this patient. Conclusion: We report the clinical and genomic landscape of a patient with MPTs who had no identifiable unique somatic or germline mutations to explain her predilection to cancer. The treatment course and overall prognosis for this patient is important for understanding future cases with unrelated, metachronous MPTs, the occurrence of which cannot always be explained by underlying genetic mechanisms. Keywords: Multiple primary tumors, Next-generation sequencing, Tumor mutational burden, Immunotherapyhttp://www.sciencedirect.com/science/article/pii/S2352578918300286 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Madhuri Martin Joshua K. Sabari Gulisa Turashvili Darragh F. Halpenny Hira Rizvi Natalie Shapnik Vicky Makker |
spellingShingle |
Madhuri Martin Joshua K. Sabari Gulisa Turashvili Darragh F. Halpenny Hira Rizvi Natalie Shapnik Vicky Makker Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors Gynecologic Oncology Reports |
author_facet |
Madhuri Martin Joshua K. Sabari Gulisa Turashvili Darragh F. Halpenny Hira Rizvi Natalie Shapnik Vicky Makker |
author_sort |
Madhuri Martin |
title |
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
title_short |
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
title_full |
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
title_fullStr |
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
title_full_unstemmed |
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
title_sort |
next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous primary tumors |
publisher |
Elsevier |
series |
Gynecologic Oncology Reports |
issn |
2352-5789 |
publishDate |
2018-05-01 |
description |
Introduction: Multiple primary tumors (MPTs) are defined as two or more separate synchronous or metachronous neoplasms occurring in different sites in the same individual. These tumors differ in histology, as well as primary sites from which they arise. Risk factors associated with the occurrence of MPTs include germline alterations, exposure to prior cancer therapies, occupational hazards, and lifestyle and behavioral influences. Case report: We present a case of a patient who was diagnosed with four metachronous primary tumors. In 2013, she was diagnosed with serous proliferations associated with psammomatous bodies of primary peritoneal origin (pT3NxM0). This was followed by invasive ductal carcinoma of the breast (stage pT2N0Mx, histological grade III/III) in 2014, melanoma (stage pT2bNxMx) in 2016 that further advanced to the lung and brain in 2017, and a low-grade lung carcinoid in 2017. To better understand the biology of this patient's MPTs, we performed next-generation sequencing (NGS) to assess for both somatic and germline alterations. The treatment course for this patient aims to target the tumor with the strongest prognostic value, namely her malignant melanoma, and has contributed favorably to the overall survival of this patient. Conclusion: We report the clinical and genomic landscape of a patient with MPTs who had no identifiable unique somatic or germline mutations to explain her predilection to cancer. The treatment course and overall prognosis for this patient is important for understanding future cases with unrelated, metachronous MPTs, the occurrence of which cannot always be explained by underlying genetic mechanisms. Keywords: Multiple primary tumors, Next-generation sequencing, Tumor mutational burden, Immunotherapy |
url |
http://www.sciencedirect.com/science/article/pii/S2352578918300286 |
work_keys_str_mv |
AT madhurimartin nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT joshuaksabari nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT gulisaturashvili nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT darraghfhalpenny nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT hirarizvi nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT natalieshapnik nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors AT vickymakker nextgenerationsequencingbaseddetectionofgermlineandsomaticalterationsinapatientwithfourmetachronousprimarytumors |
_version_ |
1725445308103524352 |