Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57-kb deletion involving the transcription start site and non-coding exon 1 of PRKAR1A. The proband is a 28-year-old male with bilateral large-cell calcified Sertoli cell testicular tumors and pituitary adenoma. Comprehensive genomic profiling for cancer mutations using Foundation One CDx failed to detect any mutations in PRKAR1A in DNA from the testicular tumor. Single-nucleotide polymorphism array analysis of the proband's genomic DNA revealed a large deletion in the 5′ region of PRKAR1A.

Detection and semiquantitation of cytomegalovirus (CMV) DNA in plasma from 17 immunocompromised patients with CMV pneumonia diagnosed histopathologically, 15 CMV seropositive patients without CMV pneumonia and 24 CMV-seropositive healthy volunteers were evaluated, using the polymerase chain reaction (PCR). CMV DNA was detected in plasma from all of 17 patients with CMV pneumonia, from 1 of 15 patients without CMV disease, but from none of healthy volunteers. One patient without CMV disease exhibited positive CMV DNA by PCR 2 days before death. Plasma CMV DNA was negative at the time of admission in all patients, however, it became positive 1-28 days (mean, 14 days) before the onset of CMV pneumonia in 16 patients. The amount of viral DNA in plasma were 10(3) - 10(5) copies/ml (mean, 10 (4.0) copies/ml) when first detected by PCR. At the onset of CMV pneumonia, they were 10(4)-10(6)(mean, 10(5.3) copies/ml), and increased with disease progression and decreased with disease improvement because of treatment with antiviral agents. We succeeded in detection of CMV DNA in plasma before the development of CMV pneumonia, and showed the amount of viral DNA reflected the extent of active CMV pneumonia. Thus, PCR amplification of CMV DNA in plasma is a useful tool for early diagnosis and monitoring of immunocompromised patients.