Pediatric and Developmental Pathology最新文献

The patients with Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome have genetic susceptibility to the opportunistic infections due to the involvement of VPS33B (vacuolar protein sorting 33 homolog B) in phagolysosome fusion in macrophages. Detailed pathologic studies in ARC patients are missing in literature due to the lack of autopsy. We described the first autopsy case of ARC syndrome in a 2-month-old male infant. His death was due to recurrent sepsis and multiorgan failure despite the appropriate poly-antibiotic therapy and supportive care. The autopsy showed invasive renal candidiasis including bilateral destructive pyelonephritis, pelvic obstructive fungal bezoars, and right large perinephric abscess. The main other findings included severe chronic liver changes and pneumonia. Liver exhibited intrahepatocyte cholestasis, large multinucleated hepatocytes, diffuse portal, bridging and perivenular fibrosis, and interlobular bile duct proliferation. The neuropathologic examination was unremarkable. This case report highlights 3 novel findings. The ARC syndrome-related immunodeficiency may predispose to renal fungal bezoars and perinephric abscess. Cholestatic stress may result in the proliferation of interlobular ducts as an adaptive response. Absence of spinal motor neuron degeneration suggests that the neurogenic amyotrophy is due to the lack of synaptic vesicle trafficking and membrane fusion rather than the defect in cell survival-related autophagosome-lysosome fusion.

Dermatofibrosarcoma protuberans (DFSP) is an intermediate-grade fibroblastic neoplasm commonly seen in young and middle-aged patients and rarely in pediatric patients. Fibrosarcomatous transformation is common in adults but extremely uncommon in children. Here, we present a case of a 2-year-old child who presented with a progressively enlarging subcutaneous mass in the knee. Histopathological examination revealed a spindle cell tumor with a storiform and fascicular pattern. Immunohistochemistry showed variable cluster of differentiation 34 (CD34) expression, with positivity in storiform areas and negativity in fascicular regions. Next-generation sequencing confirmed the diagnosis by detecting a collagen type I alpha 1 (COL1A1)-platelet-derived growth factor subunit B (PDGFB) fusion, with the PDGFB breakpoint in exon 2 (chromosome 22) and COL1A1 in intron 47 (chromosome 17). This case represents only the fifth reported instance of fibrosarcomatous DFSP in a child under 10 years old. While wide local excision remains the standard treatment for DFSP, targeted therapy with imatinib may be considered for unresectable, recurrent, or metastatic cases, though guidelines for pediatric patients are not yet established. This case highlights the importance of molecular testing in confirming the diagnosis of rare pediatric soft tissue tumors and contributes to the limited literature on fibrosarcomatous DFSP in very young children.

Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female. Both children were less than 3 years of age. Presenting complaints were jaundice and hepatosplenomegaly. The clinical diagnosis was metabolic liver disease. Histological findings included diffuse hepatocellular ballooning degeneration, prominent Mallory Denk bodies, diffuse pericellular fibrosis, and marked copper/copper-associated protein deposits, along with the absence of steatosis and glycogenated nuclei. Mettalothionein immunohistochemistry was performed in 1 case and showed strong positivity. The first child developed liver failure and died. The second child was started on oral penicillamine therapy and is alive on the most recent follow-up. Whole-exome studies of both patients showed no significant findings. None of the children had exposure to excess dietary copper. Sporadic cases of Indian childhood cirrhosis continue to occur. There should be greater awareness among pediatricians and pathologists of the disease to enable earlier diagnosis. Awareness of metallothionein expression in biopsies of patients with Indian childhood cirrhosis is important to prevent misdiagnosis of Wilson disease.

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.

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.

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.

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.

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.