Pediatric and Developmental Pathology最新文献

Introduction: Inflammatory and immunologic homeostasis in the basal plate of the placenta is essential for the fetal development and growth, since the fetus immunologically constitutes a semi-allograft. Bone marrow derived eosinophilic granulocytes are usually not found in the basal plate.

Materials and methods: We retrospectively analyzed the occurrence of eosinophilic granulocytes in the basal plate of singleton placentas and investigated clinical and pathologic-anatomic associations.

Results: In 5 singleton placentas (0.3% of all investigated cases from the archive) eosinophilic granulocytes were detectable. All these cases also displayed chronic deciduitis. Two cases had a clinical history of substitution therapy with methadone, in 2 instances the mothers had a history of atopic diseases, and 1 mother had a SARS-CoV-2-infection during pregnancy.

Conclusions: The infiltration of eosinophilic granulocytes in the decidua is a rare feature of placentas with perinatal clinical findings. Strikingly, all 5 affected cases also presented with chronic deciduitis. This may hint at a contribution of the eosinophilic infiltrate to a non-infectious pathologic inflammatory process with an increased risk for perinatal complications.

Syphilis is a preventable and treatable disease, which continues to strike low-income countries and vulnerable populations in high-income countries. It is caused by T pallidum, a spirochete capable of traversing the placental barrier, with a high rate of fetal and placental infection. Congenital syphilis (CoS) has poor prognosis if left untreated. Autopsy and placental evaluation are important tools to diagnose this disease in the obstetric scenario, to reveal the correct cause of demise and prevent complications in future pregnancies. We describe the histologic findings of eleven feto-placental examinations of non-treated CoS with fetal hydrops and stillbirth. Fetal findings are variable, with hydrops, X-ray long bone metaphyseal bands and hepatic lesions as the most consistent autopsy findings. The combination of chronic and acute villitis/intervillitis is a common placental feature in CoS, and the presence of mixed inflammatory populations is a key to suspect treponemal infection. Mothers from vulnerable populations and with poor obstetric care also deserve increased efforts to rule out CoS as cause of death. This constellation of findings must lead to further testing with direct methods (PCR or tissue immunohistochemistry for T pallidum).

A desmoplastic small round cell tumor (DSRCT) presented in a 13-year-old female with an acute abdomen due to torsion of a fallopian tube cyst. She was found to have an incidental 2 cm pedunculated, solid, and multicystic mass attached to the pelvic floor on laparoscopy. The neoplasm had a variably myxoid and spindle cell pattern with nests and cords of small cells, forming pseudocysts, and true cysts lined by ciliated epithelium which were PAX-8+ and ER+/PR+. The tumor had the EWSR1::WT1 fusion. Numerous peritoneal nodules less than 1 cm were noted on repeat laparoscopy 3 months later. These had similar features including the ciliated epithelial cysts. Our case illustrates yet another potential variant pattern of DSRCT with Mullerian-like ciliated epithelial cysts.

Background: In a non-forensic hospital setting, neonatal death within the first week of life is often related to premature birth and/or lung diseases. Without post-mortem examination, the identification of the cause of death may be challenging. Autopsy can confirm the clinical diagnosis, uncover additional information or change the diagnosis. Our study aimed to assess the correlation between the clinical diagnosis and post-mortem findings in early neonatal deaths.

Methods: The retrospective study included autopsy cases with neonatal deaths within the first 7 days of life (arbitrary time interval 2006-2021). Discrepancies between clinical and histopathological findings were classified into 3 groups: (i) full agreement, (ii) additional findings discovered by autopsy, or (iii) autopsy changed the diagnosis.

Results: A cohort of 27 cases could be identified and lung pathologies were the most common finding (56%). Additional findings could be discovered in 48% of cases. Major discrepancies which changed the clinical diagnosis could be found in 11% (n = 3/27) of cases.

Conclusion: Frequently, post-mortem examinations validate the clinical diagnosis while revealing crucial information in a few cases. In these discrepant cases, autopsy findings can provide information for genetic counselling and quality control of clinical management.

Casamassima-Morton-Nance syndrome (CMNS) is a rare disorder characterized by spondylocostal dysostosis (SCD), anal atresia, and urogenital anomalies. We describe a fetus with CMNS associated with a limb-body wall defect (LBWD), the second such case in the literature. We compare the phenotypic differences with previously reported cases, including those with segmentation anomalies of the axial skeleton, body wall defects, or absent/abnormal genitalia, revealing the consistent presence of SCD in CMNS. However, as expected, a wide phenotypic spectrum emerges, providing useful observations for fetal/neonatal screening relevant to differential diagnoses. Advanced diagnostic methods using imaging and next-generation skeletal dysplasia multi-gene panels are advisable, as they enable timely, actionable, well-informed decisions for parental counseling, potential elective termination of pregnancy, and prenatal and/or postnatal care. Most reported cases do not mention the recurrence of these usually lethal anomalies.

Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap.

Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1 or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry.

Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies.

Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.

Langerhans cell sarcoma (LCS), a rare malignant neoplasm in the general category of myeloid neoplasms characterized by overtly malignant Langerhans cells (LC) with conspicuous mitotic activity including atypical forms. Although most cases occur in adults, rare examples of LCS have been reported in children with variable clinical outcome. We present 2 childhood cases of Langerhans cell neoplasm with high grade sarcomatous features and OSBPL9::BRAF fusion and BRAF V600E mutation.

Social media has been recently highlighted as a unique and modern virtual force that allows for worldwide connection, collaboration, communication, and engagement between pathologists, trainees, and medical students. Much literature has been focused on the role of social media in recruitment and medical education practices of different pathology subspecialties, such as dermatopathology and hematopathology. However, current literature on pathology social media's status and potential future roles in promoting pediatric pathology is sparse. Herein, this review intends to narrow this knowledge gap by reviewing how social media has been utilized in different pediatric subspecialties, the current use of social media in pathology, and how the future of pediatric pathology social media use may look moving forward regarding education, research, and recruitment. Specific tips and related online resources are provided.

We present a case of a 13-year-old patient with a distinct tumor with both granular cell and perineurial elements, located on the lower lip. The patient presented with a long-standing lip mass that was clinically felt to most likely represent a mucocele. Following surgical excision, histopathological examination revealed a well-circumscribed tumor composed of granular cells with positive S100 protein staining and spindled cells positive for EMA and GLUT-1, confirming mixed neuroectodermal and perineurial origin. This is the first case documenting a perineurial-granular cell hybrid tumor in a patient under 18 years old, and the first to be reported in the head and neck. This case expands our understanding of hybrid PNSTs, emphasizing the importance of considering diverse clinical presentations, especially in the context of rare pediatric occurrences in atypical locations.