Lung Cancer 85 (2014) 485–487
Contents lists available at ScienceDirect
Lung Cancer journal homepage: www.elsevier.com/locate/lungcan
Case Report
EGFR-mutated lung cancer in Li-Fraumeni syndrome Vasiliki Michalarea a , Matthew Calcasola a , Paul Cane b , Khalid Tobal c , Louise Izatt d , James Spicer a,e,∗ a
Department of Medical Oncology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK Department of Cellular Pathology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK Department of Molecular Pathology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK d Department of Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK e Division of Cancer Studies, King’s College London, London, UK b c
a r t i c l e
i n f o
Article history: Received 20 November 2013 Received in revised form 18 June 2014 Accepted 21 June 2014
a b s t r a c t This is a revised case report of a 52 year old Caucasian female with Li-Fraumeni syndrome with a rare TP53 mutation, who was treated for breast cancer and later developed epidermal growth factor receptor (EGFR) mutated non-small cell lung cancer. Crown Copyright © 2014 Published by Elsevier Ireland Ltd. All rights reserved.
Keywords: Non-small cell lung cancer EGFR mutations Li-Fraumeni syndrome TP53 EGFR mutations Li-Fraumeni syndrome
1. Introduction Li-Fraumeni syndrome (LFS) is a rare autosomal dominant condition associated with germline mutations of the TP53 tumor suppressor gene and cancer susceptibility. It presents with a constellation of breast carcinomas, sarcomas, brain tumors, leukemia and adrenal gland cancers [1], although other malignancies including lung cancer have been implicated. We present a case of epidermal growth factor (EGFR)-driven non-small cell lung cancer (NSCLC) in a patient with LFS. 2. Case report A 24-year-old woman had local excision of a right breast lump revealing fibroadenoma with ductal carcinoma in situ (DCIS) in 1985. Sixteen months later a grade 3 invasive ductal carcinoma (IDC) in the same breast was treated with wide local excision and axillary node clearance. Adjuvant radiotherapy and an iridium implant followed. Two months later, excision of a 1.3 cm right flank
∗ Corresponding author at: Research Oncology Offices, 3rd Floor Bermondsey Wing, Guy’s Hospital, King’s College London, Great Maze Pond, London SE1 9RT, UK. E-mail addresses: [email protected] (V. Michalarea), [email protected] (J. Spicer).
lump revealed malignant fibrous histiocytoma. Grade 3 IDC with high grade DCIS, hormone receptor negative, recurred in the right breast in 1996. Mastectomy was followed by adjuvant cyclophosphamide, methotrexate and 5-fluorouracil (CMF) chemotherapy. In 2001, left mastectomy was performed for a grade 3 IDC, node and receptor negative. Adjuvant CMF again followed, since anthracycline chemotherapy was declined. The patient’s mother, maternal aunts, two first cousins and maternal grandmother all died of early onset cancer (
Contents lists available at ScienceDirect
Lung Cancer journal homepage: www.elsevier.com/locate/lungcan
Case Report
EGFR-mutated lung cancer in Li-Fraumeni syndrome Vasiliki Michalarea a , Matthew Calcasola a , Paul Cane b , Khalid Tobal c , Louise Izatt d , James Spicer a,e,∗ a
Department of Medical Oncology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK Department of Cellular Pathology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK Department of Molecular Pathology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK d Department of Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK e Division of Cancer Studies, King’s College London, London, UK b c
a r t i c l e
i n f o
Article history: Received 20 November 2013 Received in revised form 18 June 2014 Accepted 21 June 2014
a b s t r a c t This is a revised case report of a 52 year old Caucasian female with Li-Fraumeni syndrome with a rare TP53 mutation, who was treated for breast cancer and later developed epidermal growth factor receptor (EGFR) mutated non-small cell lung cancer. Crown Copyright © 2014 Published by Elsevier Ireland Ltd. All rights reserved.
Keywords: Non-small cell lung cancer EGFR mutations Li-Fraumeni syndrome TP53 EGFR mutations Li-Fraumeni syndrome
1. Introduction Li-Fraumeni syndrome (LFS) is a rare autosomal dominant condition associated with germline mutations of the TP53 tumor suppressor gene and cancer susceptibility. It presents with a constellation of breast carcinomas, sarcomas, brain tumors, leukemia and adrenal gland cancers [1], although other malignancies including lung cancer have been implicated. We present a case of epidermal growth factor (EGFR)-driven non-small cell lung cancer (NSCLC) in a patient with LFS. 2. Case report A 24-year-old woman had local excision of a right breast lump revealing fibroadenoma with ductal carcinoma in situ (DCIS) in 1985. Sixteen months later a grade 3 invasive ductal carcinoma (IDC) in the same breast was treated with wide local excision and axillary node clearance. Adjuvant radiotherapy and an iridium implant followed. Two months later, excision of a 1.3 cm right flank
∗ Corresponding author at: Research Oncology Offices, 3rd Floor Bermondsey Wing, Guy’s Hospital, King’s College London, Great Maze Pond, London SE1 9RT, UK. E-mail addresses: [email protected] (V. Michalarea), [email protected] (J. Spicer).
lump revealed malignant fibrous histiocytoma. Grade 3 IDC with high grade DCIS, hormone receptor negative, recurred in the right breast in 1996. Mastectomy was followed by adjuvant cyclophosphamide, methotrexate and 5-fluorouracil (CMF) chemotherapy. In 2001, left mastectomy was performed for a grade 3 IDC, node and receptor negative. Adjuvant CMF again followed, since anthracycline chemotherapy was declined. The patient’s mother, maternal aunts, two first cousins and maternal grandmother all died of early onset cancer (
