Fetal and Pediatric Pathology最新文献

Background: Thymic lymphoepithelial carcinoma (TLEC) is a rare subtype of thymic carcinoma that primarily affects middle-aged and older adults and is extremely rare in children. We present four cases of TLEC in children and reviewed the pertinent literature to investigate the clinical and pathological characteristics. Case Report: All four patients are male, with an average age of 10 years (range: 9-13 years). Imaging studies consistently showed an anterior mediastinal mass with a diameter of 5-15 cm. Serum EB virus (EBV) antigen was positive in three patients. Three patients were at Masaoka stage IIb and all survived after surgery, while one patient at Masaoka stage IV died nine months after surgery. Discussion: Males are more likely than females to be affected by the TLEC, which mainly affects older kids. Immunohistochemistry and in situ hybridization tests are useful for diagnosis, and the tumor's occurrence is tightly linked to EBV infection.

Background: Endosalpingiosis, a condition characterized by the presence of fallopian tube-like epithelium outside the tubes, is an incidental finding in histopathological examinations. The pathogenesis of this condition is a subject of debate, with various theories proposed to explain its origin. Its association with tumors of Müllerian origin has been observed. Case report: We describe an 11-year-old girl, the second adolescent case of appendiceal endosalpingiosis documented to date, who presented with symptoms suggestive of appendicitis and underwent laparoscopic appendectomy, with histopathological examination confirming the diagnosis. Conclusion: Our case suggests that endosalpingiosis may be indicative of müllerian choristomas. The potential link between endosalpingiosis and gynecological malignancies is concerning. Further studies are needed to elucidate the clinical significance of appendiceal endosalpingiosis in relation to gynecologic malignancies.

Langerhans Cell Histiocytosis (LCH) is a rare proliferative disorder of the Langerhans cells, often affecting multiple organ systems and mimicking conditions like autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). This case report details a 3-year-old male, who presented with submandibular swellings, nail abnormalities, seborrheic dermatitis and systemic involvement, initially diagnosed as APECED syndrome clinically. Fine-needle aspiration cytology (FNAC) and immunohistochemistry confirmed LCH. The patient was treated with vinblastine and prednisolone and showed marked improvement. This case emphasizes the importance of early, accurate diagnosis on FNAC to differentiate LCH from other mimicking conditions, enabling timely treatment and improved prognosis.

Objective:  We aimed to explore the value of chromosome microarray analysis (CMA) and karyotyping in fetuses with a high risk for Down syndrome (DS) by serological screening and prenatal cell-free DNA(cfDNA) screening in Southwest China.

Methods:  We performed CMA and karyotype in 3028 pregnant women at high risk of DS.

Results:  Among 2,830 individuals identified as high-risk through serological screening for DS, 280 (9.89%) returned positive results. Subsequent karyotyping confirmed 51 cases of DS, 13 cases of sex chromosome aneuploidy, and 11 cases of trisomy 18. Moreover, CMA revealed 45 cases of pathogenic/likely pathogenic copy number -variations (p/lpCNVs), 128 cases of uncertain significance(VOUS), and 32 cases of regions of homozygosity(ROH), with a 13.04% (205/280) increase in CMA yield compared to the karyotype analysis. Among 227 who had a high risk of prenatal cfDNA screening for DS, 181 (79.74%) exhibited positive results, including 179 cases with DS.

Conclusion:  Serological screening cannot be replaced by prenatal cfDNA screening. CMA, combined with karyotyping, has a high diagnostic value for DS and should be promoted.

Introduction: Sertoli eosinophilic granular change and Sertoli cell nodules are incidental findings. This details focal Sertoli eosinophilic granular and Sertoli cell only changes coincident with Sertoli cell nodules in a pubertal testis with acute torsion and bell clapper deformity. Case Report: A 14-year-old with bell clapper deformity underwent orchiectomy for torsion. There was acute interstitial hemorrhage. Seminiferous tubules contained only Sertoli cells in ∼10%, 2-5% of tubules demonstrated eosinophilic granular cell changes. There were several Sertoli cell nodules. Discussion: Sertoli cell nodules and eosinophilic granular change have not been described together. The focality of Sertoli cell only changes is unusual. The combination of focal Sertoli cell only and eosinophilic granular cell changes with Sertoli nodules in a testis with bell clapper abnormality may reflect an abnormal testicular environment, either physical and/or molecularly. This combination raises concerns for future fertility if seminiferous tubular abnormalities exist and progress in the remaining testis.

Introduction: Mucolipidosis II alpha/beta (ML II) is an autosomal recessive disorder with craniofacial dysmorphism and bone deformities. The variants in GNPTAB are associated with ML II. Materials and Methods: A female pediatric patient presented with bone deformities, mental and motor developmental abnormalities and craniofacial dysmorphism. We performed clinical whole-exome sequencing (WES) and verified the variants via qPCR, gap-PCR and Sanger sequencing. Results: Clinical WES identified a point variant c.1090C > T (p.R364*) and a copy number variation (CNV) in GNPTAB. Compared with normal control, GNPTAB expression was reduced in blood of the proband. Using Gap-PCR and Sanger sequencing, we identified the break point of CNV (NC_000012.11:g.102136912_102142973del), and successfully performed prenatal diagnosis for the proband's mother. Conclusion: To our knowledge, this is the first report of this novel CNV associated with ML II. Our findings expand the genotypes related to ML II and contribute to the gene diagnosis of ML II.

Perivascular epithelioid cell tumors (PEComas) of the kidney are rare mesenchymal tumors that rarely occur in children. Individuals with tuberous sclerosis (TS) are at increased risk for these tumors. While classic PEComas are benign, the epithelioid variant could have malignant potential and metastasis capacity. We report a case of right kidney epithelioid PEComa with uncertain malignant potential in a 3-year-old girl who had no personal or family history of tuberous sclerosis. The tumor was found through ultrasound imaging. Sections from the radical nephrectomy specimen showed epithelioid and spindle cells with abundant granular eosinophilic or clear cytoplasm, mildly pleomorphic vesicular nuclei and distinctive perivascular arrangement. Abundant multinucleated giant cells were seen. No further therapy was suggested by the oncologist. The patient is doing well ten months post-surgery. We reviewed the literature and analyzed the features of pediatric renal PEComas reported so far.

Introduction: Presence of leucocytic infiltration in perivascular area or in Wharton jelly indicates funisitis. While conventional histopathological examination is the gold standard, its time delay hampers timely intervention. The frozen section technique offers a rapid alternative, enabling clinicians to promptly manage preterm early onset sepsis.

Methods: This is a prospective study of 18 months. 125 preterms analyzed. Frozen sections and conventional sections of umbilical cord prepared and examined for inflammation by two researchers. Diagnostic accuracy of frozen sections versus conventional sections evaluated for sensitivity and specificity in detecting funisitis.

Results: The frozen section of the umbilical cord was 85.5% sensitive and 86.7% specific in diagnosing funisitis. The inter-rater agreement for diagnosing funisitis was 72.2%. Funisitis on frozen section was 82.2% sensitive and 26.3% specific in diagnosing neonatal sepsis.

Conclusion: Frozen section examination of umbilical cord has good diagnostic ability in detecting funisitis. The inter-rater agreement is substantial.

Introduction: We investigated the maternal and neonatal outcomes of early- and late-onset intrahepatic cholestasis of pregnancy (ICP).

Methods: A total of 198 pregnant women were recruited into this retrospective cohort study. Women with ICP (n = 84) were classified into two groups: (1) Early-onset ICP (n = 36): pregnancy duration at diagnosis <34 weeks; (2) Late-onset ICP (n = 48): pregnancy duration at diagnosis ≥34 weeks. Maternal and neonatal outcomes were compared among the three groups.

Results: The assisted reproductive technology (ART) pregnancy rate and serum bile acid (SBA) levels were significantly higher in the early-onset ICP group with adverse perinatal outcome (APO) than those without. Notably, the birth weight was significantly lower among neonates in the early-onset group of ICP than among neonates in the late-onset ICP and control groups (p < 0.001). Birth weight (OR = 0.998, 95% CI: 0.997-0.999, p = 0.041)was associated with early-onset ICP, according to the multivariate analysis. Receiver-operating characteristic (ROC) analysis revealed that a cutoff value of 36.8 weeks for gestational age at diagnosis and 9.6 mmol/L for SBA can distinguish between ICP patients with APO and those without.

Discussion: Early-onset ICP is associated with low birth weight. ART pregnancies and women with higher SBA concentrations needed to be closely monitor for possible adverse perinatal outcomes in early-onset ICP.