Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report.

BACKGROUND: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature. CASE PRESENTATION: A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern. CONCLUSIONS: This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.

Umbilical arterial lactate levels after normal vaginal and elective cesarean delivery: The role of a longer active second stage most significant in high levels after vaginal delivery.

AIM: To evaluate umbilical arterial lactate concentrations after spontaneous vaginal delivery and after elective Cesarean delivery, and to study the simultaneous effects of maternal and obstetric variables in high lactate levels in vaginally delivered healthy term singletons. METHODS: The birth register study included information about the umbilical artery lactate values and clinical perinatal data from 7723 women and their singleton newborns (7301 spontaneous vaginal and 422 elective cesareans) from Kuopio University Hospital, Finland. High lactate levels were evaluated more extensively among healthy term neonates (N = 6541), to evaluate high levels after normal vaginal labors. RESULTS: The mean lactate level was significantly lower after elective cesarean compared to vaginal delivery (2.42 [0.94] vs. 3.56 [1.62] mmol/l; p < 0.0001). Consequently, the 90th percentile limit values were 3.60 and 5.80 mmol/L. Among healthy term newborns born vaginally, higher lactate values (≥5.80 mmol/L) were independently associated with a longer duration of the active second stage of labor (ORs 1.91-10.97) and duration of ruptured fetal membranes (ORs 1.36-2.46), higher gestational age at birth (ORs 1.41-1.86), null parity (OR 2.17), maternal infection (OR 1.81) and short maternal stature (OR 1.45). We report 90th/95th limits for umbilical arterial lactate values in relation to the various durations of labors for term newborns who are delivered by the vaginal route. CONCLUSIONS: Even though the high umbilical lactate levels may indicate serious birth asphyxia, levels after vaginal birth reflect the physiological stress and subclinical transient asphyxia frequently seen in normal vaginal deliveries.

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

OBJECTIVE: This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the diagnostic yield of various analysis methods used. METHOD: A total of 121 pregnancies with prenatally suspected or diagnosed skeletal dysplasia were analyzed between 2013 and 2020. Clinical details and findings from genetic testing were collected. RESULTS: Abnormal ultrasound triggered further testing in most cases. However, there were several cases with increased nuchal translucency and/or abnormal risk ratio in the first trimester combined screening as the initial finding. Further genetic testing was performed in 84/121 (69.4%) cases. A genetic diagnosis was confirmed in 36/84 (42.9%) cases. Half of the identified cases could be attributed to a founder mutation specific to the Finnish Disease Heritage, whereas the other half consisted of a variety of other genetic defects. CONCLUSION: In our patient cohort, the overall genetic spectrum of prenatally diagnosed skeletal dysplasias was wide. However, the impact of Finnish founder mutations was considerable, suggesting that the genetic spectrum of skeletal dysplasias may differ significantly between populations. This should be taken into consideration during the diagnostic process especially as initial ultrasound findings may be unspecific and the interpretation of ultrasound features is usually difficult.