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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

Nyqvist, Jenny; Persson, Fredrik LU ; Parris, Toshima Z.; Helou, Khalil; Kenne Sarenmalm, Elisabeth; Einbeigi, Zakaria; Borg, Åke LU ; Karlsson, Per and Kovács, Anikó (2017) In Case Reports in Oncology 10(3). p.1006-1012
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Breast cancer, Colon adenocarcinoma, Endometrium adenocarcinoma, Genetic analysis, Invasive malignant melanoma, Metachronous malignancies, Multiple primary malignancies, Sarcoma, Synchronous malignancies
in
Case Reports in Oncology
volume
10
issue
3
pages
7 pages
external identifiers
  • scopus:85040162365
DOI
10.1159/000484403
language
English
LU publication?
yes
id
5b4ff8c1-6fbc-4116-9aec-359451cc2a5b
date added to LUP
2018-01-22 17:37:56
date last changed
2018-01-23 03:00:03
@article{5b4ff8c1-6fbc-4116-9aec-359451cc2a5b,
  abstract     = {<p>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.</p>},
  author       = {Nyqvist, Jenny and Persson, Fredrik and Parris, Toshima Z. and Helou, Khalil and Kenne Sarenmalm, Elisabeth and Einbeigi, Zakaria and Borg, Åke and Karlsson, Per and Kovács, Anikó},
  keyword      = {Breast cancer,Colon adenocarcinoma,Endometrium adenocarcinoma,Genetic analysis,Invasive malignant melanoma,Metachronous malignancies,Multiple primary malignancies,Sarcoma,Synchronous malignancies},
  language     = {eng},
  number       = {3},
  pages        = {1006--1012},
  series       = {Case Reports in Oncology},
  title        = {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},
  url          = {http://dx.doi.org/10.1159/000484403},
  volume       = {10},
  year         = {2017},
}