Faculty Bibliography

Background: Invasive micropapillary carcinoma (IMPC) of the breast is a rare and aggressive variant of invasive ductal carcinoma. IMPC has been reported to account for 3-6% of all breast cancers, and these tumors have been associated with a strong tendency to invade lymphatics with early spread to regional lymph nodes. Patients and methods: We present a case of this rare type of breast cancer diagnosed in a male patient and summarize the current literature to date. Results: Review of the literature on invasive micropapillary breast carcinoma revealed 27 retrospective cohort studies and case series. Significant heterogeneity of inclusion criteria and follow up data prevented meta-analysis. Tumors with an IMPC component demonstrated an early and high rate of lymphatic metastasis compared to invasive ductal carcinoma, however, no significant association was found between IMPC and decreased overall survival. Conclusions: The IMPC data currently available indicates a strong trend towards a higher initial stage at diagnosis and possibly an increased risk of loco-regional recurrence, but remains underpowered to elucidate the prognostic effect of IMPC phenotype on survival. Further studies are warranted to establish the potential of this unique histologic phenotype to serve as a prognostic indicator and guide tumor-specific oncologic therapy

BACKGROUND: Median overall survival (OS) of patients with melanoma brain metastases (MBM) is usually 6 months or less. There are rare reports of patients with treated MBM who survived for years. These outlier cases represent valuable opportunities to study the somatic and germline factors that may have influenced patient outcome and led to extended survival. CASE PRESENTATION: Here we report the clinical scenario of a 67 year old man with a recurrent brain metastasis from melanoma who has survived over 12 years post-resection. We review the literature relating to clinical and molecular variables associated with long term survival post-brain metastasis. We present the somatic characteristics of this individual patient's tumor as well as an analysis of inherited genetic variants related to immune function. The patient's resected brain tumor is BRAF V600E mutated, NRAS wild type (WT), and TERT C250T mutated. The patient is a carrier of germline variants in immunomodulatory loci associated with prolonged survival. CONCLUSIONS: Our data suggest that genetic variants in immunomodulatory loci may partially contribute to this patient's unusually favorable outcome and should not be overlooked. With further and future investigation, knowledge of inherited single nucleotide polymorphisms (SNPs) may provide clinicians with more individualized prognostic information for melanoma patients, with potential implications for surveillance strategies and therapeutic interventions.