A term female infant with hypoplastic left heart syndrome underwent Norwood palliation including aortic and pulmonary amalgamation with arch reconstruction, atrial septectomy, and right ventricle to pulmonary artery conduit. Postoperatively, she experienced hypoxemia and lactic acidosis although echocardiogram showed adequate conduit function. She was placed on veno-arterial extracorporeal membrane oxygenation (ECMO) on postoperative day two with improvement. ECMO decannulation was attempted with subsequent cardiac arrest and ultimate failure to resuscitate, eleven days after surgery. Autopsy confirmed clinical findings and evidence of surgical intervention with a patent conduit and neo-aorta. Multiple subendocardial right ventricular dystrophic calcifications involving the outflow tract were identified grossly and histologically with foci of associated myonecrosis. Myocardial calcification may lead to abnormal heart wall motion by increasing rigidity and compromising myocyte function or compromising the conduction system. In this patient, right ventricular turbulence caused by systolic and diastolic flow patterns, including mild tricuspid regurgitation, may have played a role in inducing dystrophic calcification along with surgery and ECMO dependence. Compromised myocyte function from calcifications, right ventricular hypertrophy, lung immaturity, and persistent pulmonary hypertension were likely sources of cardiac strain leading to the patient’s demise. This case represents a previously unreported complication of hypoplastic left heart syndrome treatment.
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed a myeloid sarcoma. Molecular studies demonstrated an NPM1 mutation in exon 12 without FLT3 mutation or internal tandem duplication. While a diagnosis of acute myeloid leukemia with mutated NPM1 was considered, cytogenetics revealed a complex karyotype with evidence of clonal evolution, consistent with acute myeloid leukemia with myelodysplasia-related changes. In addition to an unusual presentation of myeloid sarcoma, this case posed significant questions regarding management and pursuit of hematopoietic stem cell transplantation. Usher syndrome is genetically and clinically heterogeneous. While it is not known to be associated with increased risk of malignancy, mutation of genes associated with Usher syndrome has been identified in acute leukemia. Our case raises the question as to whether potential germline predisposition should be considered in a patient with a previously unassociated congenital syndrome.
INTRODUCTION: Breast cancer is the most prevalent non-skin cancer in women worldwide. Women with metastatic breast cancer to the liver have poor outcomes compared to metastases to other sites, frequently develop resistance to available hormonal and chemotherapeutic agents, and have poor overall survival. Conflicting evidence exists regarding the association of body mass index (BMI) with progression free and overall survival in patients with metastatic breast cancer. METHODS: A single institution retrospective study of women with breast cancer metastasis to the liver was conducted. The pathology reports and medical records from 2011 to 2017 were searched to identify cases with biopsy proven liver metastases. Several factors were considered including breast cancer histologic type and stage at diagnosis; estrogen receptor, progesterone receptor, and HER2-neu amplification status of the initially diagnosed breast cancer as well as the metastatic disease; patient age and ethnicity; BMI (kg/m2) at time of metastasis and at initial diagnosis; and, outcome to include survival after liver metastasis diagnosis. RESULTS: In our population, the BMI ranged from 21.2 kg/m2 to 56.3 kg/m2 (mean 28.4 kg/m2). Eighteen patients (62%) were either overweight or obese. Twenty-one patients (72.4%) were deceased at the time of the study with an average survival of 659 days after liver metastasis diagnosis (Table 1). Patients with a BMI > 30 (obese) had a significantly lower (p <0.0005) mean survival than patients who were overweight (BMI 25.0 kg/m2 - 29.9 kg/m2). Patients who were overweight had a significantly lower mean survival than patients who had a normal BMI (18.5 kg/m2 -24.9 kg/m2). Five patients with liver metastases survived greater than 2000 days. The mean BMI of these five patients was 25.4 kg/m2. CONCLUSION: Obesity is a well-known cause of co-morbidities, and has been suggested to negatively impact the prognosis in breast cancer. In patients with liver metastases, our data suggests that an increased BMI is associated with decreased survival. This appears to be consistent in both ER positive and Her-2 positive patients (Table 1). This finding may be true regardless of the metastatic site. Further investigation on BMI and patients with metastatic disease to the liver and other organs are needed. We continue to collect data on patients with metastatic disease to the liver and other sites, including bone, to further validate our findings. Table 1: Mean overall survival in patients with liver metastasisTotalER+ Liver MetastasisHER2+ Liver MetastasisBMI kg/m2N (%)Mean Survival (days)*N (%)Mean Survival (days)*N (%)Mean Survival (days)*Underweight (<18.5)0NA0NA0NANormal (18.5-24.9)6 (28.6)923.85 (31.3)1085.42 (40)547.5Overweight (25.0-29.9)8 (38.1)753.54 (25)7080NAObese (> 30)7 (33.3)3237 (43.7)3233 (60)315NA: not applicable*p-values <0.0005 Citation Format: Cynthia Reyes Barron, Maricarmen Planas-Silva, David G Hicks, Bradley M Turner. Body mass index and liver metastasis in women with invasive breast carcinoma [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P5-08-25.
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