Response to Carboplatin and Paclitaxel in the treatment of hereditary breast ovarian cancer syndrome (HBOC): a case report

J Pak Med Assoc. 2024 Dec;74(12):2184-2187. doi: 10.47391/JPMA.20059.

Abstract

The co-occurrence of primary breast cancer and primary ovarian cancer is an exceptional hereditary phenomenon and results from inherent mutations in critical genes like BRCA1/2, PALB2, TP53, CHEK1, and ATM. We present here a unique case of hereditary breast-ovarian cancer syndrome (HBOC) reported in Combined Military Hospital, Lahore, Pakistan. It was marked by pathogenic variants in RAD51D, PALB2, CHEK1, and TP53 genes. Remarkably, the patient exhibited an outstanding response to the chemotherapy agents, Carboplatin and Paclitaxel. This dynamic treatment not only led to nearly complete remission of high-grade ovarian serous cancer but also triggered regression in grade-2 invasive ductal breast cancer after just a few rounds of chemotherapy. Consequently, what started as palliative care evolved into a curative triumph.

Keywords: Hereditary breast ovarian cancer, Breast cancer, Ovarian cancer, HBOC, BRCA, PALB2, Chemotherapy, Carboplatin, Paclitaxel..

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antineoplastic Combined Chemotherapy Protocols* / therapeutic use
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics
  • Carboplatin* / therapeutic use
  • Carcinoma, Ductal, Breast / drug therapy
  • Carcinoma, Ductal, Breast / genetics
  • Female
  • Hereditary Breast and Ovarian Cancer Syndrome* / drug therapy
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics
  • Paclitaxel* / therapeutic use

Substances

  • Carboplatin
  • Paclitaxel