ABSTRACT
BACKGROUND: Colorectal cancer with a global incidence of 10% has multiple pathways implicated in its carcinogenesis. WNT signaling is the principal underlying pathway via APC gene, while defective mismatch repair genes and epigenetic changes also are known to contribute. CASE PRESENTATION: Here, we present an unusual case of rectal adenocarcinoma in a woman, with germline MSH6 and PMS1 mutations, and simultaneous somatic APC and TP53 mutations treated with surgery and adjuvant capecitabine. CONCLUSIONS: The case is unique suggesting a possible interaction between the two pathways and contributing to carcinogenesis in this patient. This also suggests need for a thorough germline and somatic mutation evaluation in select colorectal cancer patients to direct a tailored therapy.
Subject(s)
Carcinogenesis , Rectal Neoplasms , Female , Humans , Carcinogenesis/genetics , Rectal Neoplasms/complications , Rectal Neoplasms/genetics , DNA Mismatch Repair , Epigenesis, Genetic , MutationABSTRACT
Accessory breast tissue has an incidence of 0.3-6% and primary cancer arising in it is even rarer 0.2-0.6%. It may have aggressive course with tendency for early metastasis. Due to its rarity, variety of differentials, and lack of clinical awareness, treatment is usually delayed. We present here an interesting case of a 65-year-old lady with a 8 × 7-cm hard lump in right axillary region for 3 years with fungation for 3 months and with no concomitant breast lesion or axillary lymphadenopathy. Biopsy revealed invasive ductal carcinoma with no systemic metastasis. Management of accessory breast cancer follows same guidelines with primary treatment being wide excision and lymphadenectomy. Adjuvant therapies include radiotherapy and hormonal therapy.