Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency

Journal of Clinical Immunology - Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity characterized by absence or loss of function in T cells. The...     

Contribution of MRI to ultrasound in the diagnosis of fetal anomalies

Purpose:

To evaluate the contribution of MRI to ultrasound (US) in the diagnosis of fetal anomalies.

Materials and Methods:

After informed consent and institutional review board approval, concomitant US and MR imaging were performed for 184 fetuses with suspected anomalies in university hospital. Postnatal final diagnoses were obtained for 183 anomalies in 151 fetuses either by radiological examination, surgery, autopsy, or inspection. The prenatal US and MR diagnoses were compared with respect to postnatal diagnoses. Sign test was used to determine the statistical significance.

Results:

Both ultrasound and MR imaging correctly diagnosed 93 (50%) cases and failed in 12 (7%) cases. Ultrasound was superior in 7 (4%) cases. MR imaging was superior in 71 (39%) cases (P < 0.001). MR contributed to the prenatal diagnosis by the confirmation of the suspected US diagnosis in 13%, by demonstration of additional findings in 31% and by changing the diagnosis in 56% of the cases. The contribution rates were 55% for the central nervous system (CNS) (P < 0.001), 44% for thorax (P = 0.016), 38% for gastrointestinal system (GIS) (P = 0.031) and 29% for genitourinary system (GUS) (P = 0.003) anomalies. In facial, cardiac and extremity‐skeletal system anomalies, there was not a significant contribution of MR imaging over US.

Conclusion:

MR imaging can be used as an adjunct to US in the prenatal diagnosis of fetal anomalies of not only the CNS but also the non‐CNS origin especially those involving the GIS, GUS and thorax. J. Magn. Reson. Imaging 2012;35:882–890. © 2011 Wiley Periodicals, Inc.     

Childhood Rhabdomyosarcoma of the Female Genital Tract: Association with Pathogenic DICER1 Variation,Clinicopathological Features,and Outcomes

Study ObjectiveRhabdomyosarcomas (RMSs) of the female genital tract (FGT) have been recently shown to be associated with germline pathogenic variation in DICER1, which can underlie a tumor predisposition disorder. We sought to determine the incidence of a pathogenic variation in DICER1 in a cohort of RMSs of the FGT, as well as to evaluate the clinicopathological features and outcomes of the patients.Design, Setting, Participants, Interventions, and Main Outcome MeasuresWe retrospectively reviewed medical records of the patients diagnosed with RMS of the FGT between 1990 and 2019. Molecular genetic sequencing of the tumor to detect an RNase IIIb domain hot spot mutation in DICER1 samples was performed in 7 patients. Individuals with a missense mutation in the tumor were also screened for a loss of function germline mutation in DICER1.ResultsOf 210 cases of pediatric RMS, 11 arose from the FGT. Molecular genetic sequencing of the tumor samples revealed a somatic missense mutation in the RNase IIIb domain of DICER1 in a total of 3 patients, 2 patients with embryonal RMS of the cervix/uterus, and 1 patient with ovarian embryonal RMS. As a result of genetic testing for the loss of function germline mutation in DICER1, a heterozygous pathogenic variant was also found in 2 of these patients.ConclusionDespite the limited number of patients, our findings suggest that it is important to be aware of the possible association between RMS of FGT and pathogenic germline DICER1 variants because the detection of this mutation in a patient or relatives can provide the opportunity for surveillance of related conditions that might improve long-term outcomes and survival.     

Tumor deposits in gastric carcinomas

We performed this study to examine the prevalence of tumor deposits (TD) in gastric adenocarcinomas (GACa), and the relevance of their presence, size and type to clinical outcome.