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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Metachronous and synchronous occurrence of 5 primary malignancies in a female patient between 1997 and 2013 : A case report with germline and somatic genetic analysis

Author

  • Jenny Nyqvist
  • Fredrik Persson
  • Toshima Z. Parris
  • Khalil Helou
  • Elisabeth Kenne Sarenmalm
  • Zakaria Einbeigi
  • Åke Borg
  • Per Karlsson
  • Anikó Kovács

Summary, in English

The number of patients with multiple primary malignancies has been increasing steadily in recent years. In the present study, we describe a unique case of an 81-year-old woman with 5 metachronous and synchronous primary malignant neoplasms. The patient was first diagnosed with an endometrium adenocarcinoma in 1997 and a colon adenocarcinoma in 2002. Eleven years after her colon surgery, in 2013, the patient presented with 3 other primary malignancies within a 4-month time span: An invasive malignant melanoma on the lower leg, an invasive mucinous breast carcinoma in the right breast, and a pleomorphic spindle cell sarcoma on the left upper arm. Subsequent routine medical checkups in 2013-2017 revealed no metastases of the primary malignancies. The patient mentioned a familial aggregation of malignant tumors, including 2 sisters with breast cancer and a brother with lung cancer. Interestingly, next-generation sequencing analysis of the patient's blood sample detected no mutations in the BRCA1, BRCA2, TP53, PTEN, CDH1, PALB2, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11, BMPR1A, SMAD4, PTEN, POLE, POLD1, GREM1, and GALNT12 genes. Therefore, whole genome sequencing is warranted to identify cancer-related genetic alterations in this patient with quintuple primary malignancies.

Department/s

  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2017

Language

English

Pages

1006-1012

Publication/Series

Case Reports in Oncology

Volume

10

Issue

3

Document type

Journal article

Publisher

Karger

Topic

  • Cancer and Oncology

Keywords

  • Breast cancer
  • Colon adenocarcinoma
  • Endometrium adenocarcinoma
  • Genetic analysis
  • Invasive malignant melanoma
  • Metachronous malignancies
  • Multiple primary malignancies
  • Sarcoma
  • Synchronous malignancies

Status

Published

ISBN/ISSN/Other

  • ISSN: 1662-6575