Sentinel node mapping and biopsy in ectopic axillary breast cancer: A case report and review of the literature.

Sentinel lymph node mapping in patients with axillary breast carcinoma is technically challenging and poorly described in the literature. We report a patient with primary ectopic breast carcinoma of the axilla in whom concurrent peri-tumoral and intra-tumoral injection of radionuclide tracer allowed for identification and biopsy of sentinel lymph nodes.

Availability and Prices of WHO Essential Diagnostics in Laboratories in West Africa: A Landscape Survey of Diagnostic Testing in Northern Ghana.

BACKGROUND: We determined the availability and pricing of laboratory testing in the Northern Region of Ghana to identify current gaps with respect to the WHO's Essential Diagnostics List (EDL). METHODS: A representative sample of facilities offering diagnostic testing within the Northern Region was geographically mapped and evaluated, with random sampling stratified by population density. Data were collected on testing menus, volumes, turn-around times, and out-of-pocket test prices. A total of 27 health centers and 39 clinical laboratories were surveyed between June and August 2019. RESULTS: Health centers offered a median of 2 of 20 tests recommended by the WHO for facilities without laboratories. The most common tests offered included point-of-care tests for malaria, HIV, and pregnancy. Clinical laboratories offered a median of 11 of 72 tests on the EDL. These facilities most commonly provided testing for malaria, HIV, pregnancy, HBsAg, urinalysis, HCV Ab, syphilis, glucose, and CBC. Urban laboratories had a total of 36 EDL tests available while rural laboratories had 12. Test prices were higher in private compared to public laboratories. National Health Insurance reimbursements were lower than out-of-pocket prices (38%), and when controlling for test price, test availability was negatively associated with this gap in reimbursement. CONCLUSIONS: Availability of diagnostic testing in Ghana's Northern Region is severely limited compared to the WHO's EDL. The disparity is pronounced in rural facilities. Reimbursement rates should be reset to more closely match out-of-pocket test prices in order to achieve the Universal Health Coverage target of the Sustainable Development Goals.

IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.

Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1R132H) are younger at diagnosis and live longer. IDH1 mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 (TP53) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene (ATRX). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1R132H mutation. The current molecular classification of LGGs is based, partly, on the distribution of these mutations. We developed a genetically engineered mouse model harboring IDH1R132H, TP53 and ATRX inactivating mutations, and activated NRAS G12V. Previously, we established that ATRX deficiency, in the context of wild-type IDH1, induces genomic instability, impairs nonhomologous end-joining DNA repair, and increases sensitivity to DNA-damaging therapies. In this study, using our mouse model and primary patient-derived glioma cultures with IDH1 mutations, we investigated the function of IDH1R132H in the context of TP53 and ATRX loss. We discovered that IDH1R132H expression in the genetic context of ATRX and TP53 gene inactivation (i) increases median survival in the absence of treatment, (ii) enhances DNA damage response (DDR) via epigenetic up-regulation of the ataxia-telangiectasia-mutated (ATM) signaling pathway, and (iii) elicits tumor radioresistance. Accordingly, pharmacological inhibition of ATM or checkpoint kinases 1 and 2, essential kinases in the DDR, restored the tumors' radiosensitivity. Translation of these findings to patients with IDH1132H glioma harboring TP53 and ATRX loss could improve the therapeutic efficacy of radiotherapy and, consequently, patient survival.