ABSTRACT
INTRODUCTION: Breast cancer metastasis to the gastrointestinal tract is rare and mostly limited to case reports which recommend consideration of metastasis when breast cancer patients particularly those with invasive lobular carcinoma present with new gastrointestinal complaints. PRESENTATION OF CASE: We report a 50-year-old female who presented with gastrointestinal symptoms of nausea and vomiting determined to be the result of large bowel obstruction secondary to rectosigmoid metastasis and carcinomatosis of breast invasive lobular carcinoma. She was treated with diverting loop sigmoid colostomy for her large bowel obstruction. DISCUSSION: Our case reflects the importance of gastrointestinal surveillance of patients with a history of breast cancer. Current National Comprehensive Cancer Network (NCCN) guidelines for stage I-II breast cancer suggest posttreatment lab and imaging evaluation for metastasis only if new symptoms present. CONCLUSION: We observed an unusually rapid disease progression, requiring evaluation of new gastrointestinal symptoms. Assessment for GI tract metastatic involvement should be done as early as progression to symptomatic disease can result in need for further invasive surgery in advanced stages of cancer.
ABSTRACT
A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A>G, p.Tyr143Cys; c.982T>G, p.Tyr328Asp) presented at 8 months of age with growth failure, microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. Plasma methionine, S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were markedly elevated and the molar concentration ratio of AdoMet:AdoHcy, believed to regulate a myriad of methyltransferase reactions, was 15% of the control mean. Dietary therapy failed to normalize biochemical markers or alter the AdoMet to AdoHcy molar concentration ratio. At 40 months of age, the proband received a liver segment from a healthy, unrelated living donor. Mean AdoHcy decreased 96% and the AdoMet:AdoHcy concentration ratio improved from 0.52±0.19 to 1.48±0.79 mol:mol (control 4.10±2.11 mol:mol). Blood methionine and AdoMet were normal and stable during 6 months of follow-up on an unrestricted diet. Average calculated tissue methyltransferase activity increased from 43±26% to 60±22%, accompanied by signs of increased transmethylation in vivo. Factor VII activity increased from 12% to 100%. During 6 postoperative months, head growth accelerated 4-fold and the patient made promising gains in gross motor, language, and social skills.
