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INTRODUCTION: Fumarate Hydratase-deficient-renal cell carcinoma (FH-dRCC) is an uncommon and extremely aggressive variant of renal cell carcinoma (RCC) resulting from inactivating mutations in the tumor suppressor gene, fumarate hydratase (FH). CASE PRESENTATION: We report a case of a young male who presented with the complaint of painless hematuria. Upon workup, he was found to have a renal mass with bony metastases. The histopathology was consistent with renal cell carcinoma with features of FH-deficient variant. Germline testing showed a pathogenic mutation in the FH gene. He was started on a treatment combination of Pembrolizumab and Axitinib along with Zoledronate for bone metastasis. His response to the combination therapy was short with early progression of disease. He was switched to a second-line treatment Bevacizumab and Erlotinib, which achieved significant disease response. DISCUSSION: Systemic therapy is the mainstay of treatment for metastatic disease. Although the novel agents approved for other subsets of RCC have been used, the responses are grim. There is no consensus on the sequence of further lines of treatment for FH-dRCC and is based on the physician's choice, availability of the drugs, cost, toxicity, and tolerance of the patient. CONCLUSION: This case report emphasizes the occurrence, presentation, management and prognosis of FH-dRCC, which is an aggressive entity, presenting at a young age with early distant metastases, not diagnosed appropriately due to its poorly characterized cytologic features. Being an infrequent neoplasm, it is an area that warrants oncological exploration to improve outcomes in these individuals. The combination of Erlotinib and Bevacizumab provides promising outcomes in terms of progression-free survival.
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INTRODUCTION: Adenoid cystic carcinoma is a neoplasm that is commonly of salivary gland origin. It could infrequently arise from other tissues such as breast in which case it behaves favorably despite belonging to triple-negative breast cancer subgroup. CASE PRESENTATION: We report a case of a 49-year-old female patient, who presented with right breast pain and upon work-up, was diagnosed with early-stage adenoid cystic carcinoma of the breast. She underwent breast conservation successfully and was advised to get evaluated for adjuvant radiotherapy. The work has been reported in line with the SCARE criteria (Agha et al., 2020). CLINICAL DISCUSSION: Breast adenoid cystic carcinoma (BACC) is a rare distinct salivary gland-like carcinoma of the breast with similar morphological features to those seen in salivary gland adenoid cystic carcinoma. Surgical resection is the standard mode of treatment in BACC. The role of adjuvant chemotherapy has not proven beneficial in the management of BACC, owing to the similar survival rates seen in patients with and without chemotherapy. CONCLUSION: Localized breast adenoid cystic carcinoma (BACC) is an indolent disease having optimal response to surgical resection alone and thus can omit adjuvant radiotherapy and chemotherapy when completely excised. Our case is unique as BACC is a rare clinical variant of breast cancer with a very low incidence rate.