Metachronous Breast and Lung Cancers in a Middle-Aged Woman with Peutz-Jeghers Syndrome

Kenji  Ina; Mikinori  Miyazaki; Tomoko  Nishio; Yuko  Kato; Satoshi  Kayukawa; Takae  Kataoka; Katsuhiko  Endo; Tomoki  Fukuoka

doi:10.30683/1929-2279.2024.13.11

Metachronous Breast and Lung Cancers in a Middle-Aged Woman with Peutz-Jeghers Syndrome

Authors

Kenji Ina Department of Geriatric Medicine, Shinseikai Dai-ichi Hospital, Japan https://orcid.org/0000-0001-8646-0611
Mikinori Miyazaki Department of Respiratory Medicine, Nagoya Memorial Hospital, Japan
Tomoko Nishio Department of Pathology, Nagoya Memorial Hospital, Japan
Yuko Kato Medical Social Work Consultation Room, Nagoya Memorial Hospital, Japan
Satoshi Kayukawa Department of Clinical Oncology, Nagoya Memorial Hospital, Japan
Takae Kataoka Department of Clinical Oncology, Nagoya Memorial Hospital, Japan
Katsuhiko Endo Department of Surgery, Nagoya Memorial Hospital, Japan
Tomoki Fukuoka Department of Surgery, Nagoya Memorial Hospital, Japan

DOI:

https://doi.org/10.30683/1929-2279.2024.13.11

Keywords:

Peutz-Jeghers syndrome, SKT11 pathogenic variant, lung cancer, breast cancer, metachronous primary cancers, hamartomatous polyp

Abstract

We report the case of a middle-aged woman with Peutz-Jeghers syndrome who developed metachronous breast and lung cancers, because lung cancer is infrequently associated with PJS, especially for women with this disorder. At the age of 12 years, the patient was diagnosed with Peutz-Jeghers syndrome owing to the presence of multiple hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. She developed breast cancer and underwent curative mastectomy and postoperative adjuvant chemotherapy at 48 years of age. Five years later, computed tomography showed multiple lung nodules. The pathological diagnosis of the lung lesion was a mucinous adenocarcinoma, which differed from that of the resected breast cancer. She then received cisplatin/ pemetrexed therapy combined with pembrolizumab for non-small cell lung cancer, which reduced the size of the lung tumors. However, the disease eventually progressed, and she underwent a gene panel test because of the refractoriness to pharmacotherapy, which demonstrated a germline STK11 pathogenic variant.

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