Double Trouble: A Case of Synchronous Breast and Renal Malignancies Associated with ATM Gene Mutation in a 41-Year-Old Filipino Female
Mary Neil T. Castillon MD1*, Dawn Marie Dayot MD2, Mark Francis Claparols MD3, Julian Salvador Vinco MD4 and Norman Cabaya MD5
1 Internal Medicine, Resident in Training, Dr. Pablo O. Torre Memorial Hospital, Philippines.
2 General Surgery, Resident in Training, Dr. Pablo O. Torre Memorial Hospital, Philippines.
3 Breast Surgeon, Dr. Pablo O. Torre Memorial Hospital, Philippines.
4 Urologist, Dr. Pablo O. Torre Memorial Hospital, Philippines.
5 Medical Oncologist, Dr. Pablo O. Torre Memorial Hospital, Philippines.
*Corresponding Author: Mary Neil T. Castillon MD, Internal Medicine, Resident in Training, Dr. Pablo O. Torre Memorial Hospital, Philippines.
DOI: https://doi.org/10.58624/SVOAMR.2024.02.016
Received: March 18, 2024 Published: August 12, 2024
Abstract
Introduction: While renal cell carcinoma is the most common malignancy of the kidneys, and breast cancer is the leading type of malignancy in females, simultaneous diagnosis of both these malignancies in a patient is rare. In literature search, synchronous breast and renal malignancies were mostly presented in case reports due to its uncommon presentation.
Case Report: We report a case of a 41-year old Filipino female who initially complained of a right breast mass with nipple discharges. Breast ultrasound showed an irregular hypoechoic mass at the upper outer quadrant of the right breast measuring 7cm with equivocal/indeterminate features. Core needle biopsy was done revealing invasive mammary carcinoma, no special type, Black’s Nuclear Grade 2, Luminal A ER/PR(+) Her2Neu(-). Upon metastatic work-up, an incidental finding of a large left renal mass on ultrasonography was seen and confirmed by whole abdominal computed tomography scan measuring 10.6x7.7x8cm. No urinary tract symptoms were experienced by the patient. Patient eventually had full course sequential neoadjuvant chemotherapy (4 cycles Doxorubicin/ Cyclophosphamide and 4 cycles Docetaxel) then underwent total mastectomy with axillary lymph node dissection (ALND) followed by left radical nephrectomy in a single setting. Final histopathology report revealed Invasive Mammary Carcinoma PST IIIA (T2N2M0) no special type, Nottingham histologic Grade 3 and conventional Renal Clear Cell Carcinoma St II (T2aN0M0), Furhman Nuclear Grade 2. Genetic Testing was done with mutation in ATM gene.
Conclusion: The importance of holistic treatment in cancer patients cannot be over-emphasized. Complete history, physical examination and proper work up at the onset is of paramount importance in identification of possible synchronous malignancies. which may be treated simultaneously with curative intent.
Keywords: Breast Cancer, Renal Cell Carcinoma, Synchronous malignancy, Multiple primary malignancy
Citation: T. Castillon MN, Dayot DM, Claparols MF, Vinco JS, Cabaya N. Double Trouble: A Case of Synchronous Breast and Renal Malignancies Associated with ATM Gene Mutation in a 41-Year-Old Filipino Female. SVOA Medical Research 2024, 2:2, 40-47. doi: 10.58624/SVOAMR.2024.02.016