UNASSIGNED: Microsatellite instability (MSI) is a genetic marker that is useful in the detection and treatment of Lynch syndrome (Sd). Although conventional techniques such as immunohistochemistry (IHC) and polymerase chain reaction (PCR) are the standards for MSI detection, the advent of next-generation sequencing (NGS) has offered new possibilities, especially with circulating DNA.
UNASSIGNED: We present the case of a 26-year-old patient with Lynch Sd and a BRAF-mutated metastatic colon cancer. The discordant MSI results between the conventional methods and NGS posed challenges in making treatment decisions. Subsequent NGS analysis revealed a high MSI status, leading to participation in an immunotherapy trial, with remarkable clinical response.
UNASSIGNED: This case emphasizes the importance of comprehensive molecular profiling and strong interdisciplinary collaborations, especially in cases with ambiguous MSI results.

UNASSIGNED: Cunninghamella bertholletiae although rarely causing mucormycosis, is responsible for the highest mortality among mucormycetes. The diagnosis of mucormycosis is challenged by the absence of specific biomarkers. Herein, we report a fatal case of C. bertholletiae infection and detection of its DNA in the serum by polymerase chain reaction (PCR).
UNASSIGNED: A 23-year-old male with refractory osteosarcoma was admitted with multiple lung metastases. He was on oral voriconazole prophylaxis after pulmonary aspergillosis. He suffered from fever during temporary neutropenia following chemotherapy and showed several neurological and respiratory symptoms. Despite liposomal-amphotericin B administration, the symptoms rapidly progressed, and he died five days after the onset of neurological symptoms.We retrospectively evaluated the filamentous fungus isolated after his death from gastric juices. Based on the sequence of the internal transcribed spacer (ITS) region we identified the fungal isolate as C. bertholletiae. A 146-bp portion of the D1/D2 region was quantified by quantitative-PCR using DNA extracted from the serum. C. bertholletiae DNA load in the serum was 18.0 copies/μL on the day of onset of neurological symptoms, with the highest (101.0 copies/μL) on the day of his death.
UNASSIGNED: Detection of circulating DNA of mucormycetes in the blood would greatly enhance the diagnosis of mucormycosis. Rapid diagnosis might alleviate mortality due to mucormycosis.
UNASSIGNED: The present case-report suggests that the quantification of C. bertholletiae DNA in the serum could be useful for the diagnosis and evaluation of mucormycosis pathogenesis in patients.

The level of apoptosis is increased during pregnancy. Dying cells emit DNA that remains in blood circulation and is known as cell-free DNA (cfDNA). The concentration of cfDNA can reflect the level of cell death. The present article is the result of studying cfDNA concentration and DNase I activity in the blood plasma of 40 non-pregnant women (control), 40 healthy pregnant women (over 37 weeks) and 40 pregnant women with a diagnosis of intrauterine growth restriction (IUGR). In order to explain the obtained results, a program modeling the change of cfDNA concentration under the influence of different internal and external factors was written. It was reported that, despite the fact that the level of cell death is increased, cfDNA concentration in blood can be decreased due to activation of cfDNA elimination system. A significant increase of DNase I activity has been reported in cases of IUGR. Increase in DNase I activity over a certain threshold indicates presence of pathological processes in the organism. CfDNA circulating in blood cannot be a reliable marker of increased cell death during pregnancy. Thus, assessment of the level of cell death during pregnancy should be done by simultaneous analysis of cfDNA level and DNase I activity.

BACKGROUND: The identification of an activating mutation of the gene encoding the epidermal growth factor receptor (EGFR) is a predictive factor of effectiveness of tyrosine kinase EGFR inhibitors (TKIs). In advanced stages of the disease, however, this identification is difficult due to the invasiveness of the biopsy and the small size of tumor samples. In that context, liquid biopsies could be useful.
METHODS: We report the case of a 79-year-old woman suffering from metastatic lung cancer. The molecular analysis of bronchial biopsy for the EGFR gene was not informative due to the low quantity and the poor quality of the extracted DNA. The poor condition of the patient and her refusal to tissue sampling did not allow us to practice another invasive biopsy. The analysis of the tumor DNA circulating (cDNA) allowed to detect exon 19 deletion and to propose her an TKI with in the outcome sustained response.
CONCLUSIONS: Circulating DNA analysis allows the identification of activating mutations of the EGFR gene in pulmonary adenocarcinomas. It is useful for weakened patients and in case of failure or inability of tumor biopsies. Initiation of EGFR TKI is possible on the basis of this result, as stated in the marketing authorization of gefitinib.