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Updated: Feb 8, 2026
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Next-generation sequencing based detection of germline and somatic alterations in a patient with four metachronous
Madhuri Martin1, Joshua K Sabari2, Gulisa Turashvili3
1Gynecologic Medical Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 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.
Insights
This case study details a patient with four distinct primary tumors, including peritoneal, breast, melanoma, and lung cancers. Despite comprehensive genomic analysis, no specific genetic mutations were found to explain the patient's predisposition to multiple primary tumors (MPTs).
Area of Science:
- Oncology
- Genomics
- Cancer Biology
Background:
- Multiple primary tumors (MPTs) involve two or more distinct neoplasms in one individual, varying in histology and site.
- Known risk factors for MPTs include genetic alterations, prior cancer treatments, occupational exposures, and lifestyle choices.
Observation:
- A patient developed four metachronous primary tumors: primary peritoneal serous proliferations, invasive ductal breast carcinoma, melanoma with metastasis, and a lung carcinoid.
- Next-generation sequencing (NGS) was performed to analyze somatic and germline alterations in the patient's tumors.
Findings:
- No unique somatic or germline mutations were identified that could explain the patient's susceptibility to developing multiple unrelated primary tumors.
- The patient's treatment focused on the malignant melanoma, which had a favorable impact on overall survival.
Implications:
- This case highlights that the development of metachronous multiple primary tumors may not always be linked to identifiable genetic predispositions.
- Understanding the clinical and genomic landscape of such cases is crucial for managing future patients with unexplained MPTs and for refining prognostic assessments.
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