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Liver histology in infants with cystic fibrosis (CF) and persistent cholestasis is seldom reported in detail. We extend previous observation of a distinctive intrahepatic cholangiopathy (ICCF) to 3 additional infants homozygous for CFTR pathological variants and a fourth infant with a heterozygous CFTR variant, summarizing our experience in 10 infants with CFTR variants and persistent cholestasis. Cholangiograms demonstrate abnormal extrahepatic ducts in 2 infants with CF, 1 with uniform dilatation interpreted as a choledochal cyst and the other with narrow patent ducts. Liver histology in 3 CF homozygotes had prominent ductular reaction with a focally destructive cholangiolitis (inflammation of small bile ducts). The CFTR heterozygote had generalized portal edema with ductular reaction and paucity but no cholangitis. Cholestasis slowly subsided in all infants. ICCF is characterized by severe ductular reaction, prominent cholangiocyte injury, and multifocal necrotizing cholangiolitis. Local aggregates of portal ceroid might suggest previous bile leakage from damaged ducts. ICCF in liver biopsies from infants with cystic fibrosis and persistent cholestasis is unrelated to the specific CFTR genotype. Liver biopsy findings and intraoperative cholangiogram help rule out biliary atresia. ICCF is an early manifestation of CF, a likely prototype for pathogenesis of cystic fibrosis liver disease later in life.
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Atresia Biliar , Colestase Intra-Hepática , Colestase , Fibrose Cística , Hepatite , Lactente , Humanos , Fibrose Cística/complicações , Fibrose Cística/genética , Fibrose Cística/patologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Colestase/diagnóstico , Colestase/etiologia , Fígado/patologia , Atresia Biliar/patologia , Hepatite/patologia , Colestase Intra-Hepática/patologiaRESUMO
BACKGROUND: Transnasal endoscopy (TNE) does not require general anesthesia, an attractive characteristic for monitoring eosinophilic esophagitis (EoE). We evaluated the adequacy of TNE-obtained esophageal biopsies using the EoE Histology Scoring System (EoEHSS). METHODS: The Cincinnati Center for Eosinophilic Disorders database was searched for esophageal biopsies obtained by the same endoscopist, using either TNE or conventional endoscopy (CE). Whole-slide biopsy images were evaluated. The Mann-Whitney test was used for median (interquartile range) values and Fisher exact test for categorical variables. P ≤ .05 was considered significant. RESULTS: Median age (P = .82) or height (P = .83) did not differ between TNE (n = 17) and CE (n = 17) groups. Although median largest piece size (mm2) differed between the groups (TNE: 0.59 (0.45, 0.86), CE: 2.24 (1.09, 2.82), P < .001), all 8 EoEHSS features were evaluated in each group; only 1 feature (lamina propria fibrosis) was missing in both groups (TNE: 19/34, CE: 11/34, P = .09). The median peak eosinophil count/high-power field differed (TNE: 3 (0, 29), CE: 16 (1, 66), P = .03), but overall grade (TNE: 0.17 (0.10, 0.29), CE: 0.22 (0.14, 0.46), P = .12), stage (TNE: 0.14 (0.10, 0.24), CE: 0.20 (0.10, 0.43), P = .15), and non-eosinophil-related individual EoEHSS scores did not differ. CONCLUSIONS: TNE- and CE-obtained esophageal biopsies are similarly sufficient for evaluation of key pathological features in EoE.
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Esofagite Eosinofílica , Esôfago , Humanos , Esofagite Eosinofílica/patologia , Esofagite Eosinofílica/diagnóstico , Feminino , Masculino , Biópsia , Esôfago/patologia , Criança , Adolescente , Esofagoscopia , Estudos Retrospectivos , Pré-Escolar , AdultoRESUMO
BACKGROUND & AIMS: Two patients with homozygous mutations in PDX1 presented with pancreatic agenesis, chronic diarrhea, and poor weight gain, the causes of which were not identified through routine clinical testing. We aimed to perform a deep analysis of the stomach and intestine using organoids derived from induced pluripotent stem cells from PDX1188delC/188delC patients. METHODS: Gastric fundic, antral, and duodenal organoids were generated using induced pluripotent stem cell lines from a PDX1188delC/188delC patient and an isogenic induced pluripotent stem cell line where the PDX1 point mutation was corrected. RESULTS: Patient-derived PDX1188delC/188delC antral organoids exhibited an intestinal phenotype, whereas intestinal organoids underwent gastric metaplasia with significant reduction in enteroendocrine cells. This prompted a re-examination of gastric and intestinal biopsy specimens from both PDX1188delC/188delC patients, which recapitulated the organoid phenotypes. Moreover, antral biopsy specimens also showed increased parietal cells and lacked G cells, suggesting loss of antral identity. All organoid pathologies were reversed upon CRISPR-mediated correction of the mutation. CONCLUSIONS: These patients will now be monitored for the progression of metaplasia and gastrointestinal complications that might be related to the reduced gastric and intestinal endocrine cells. This study demonstrates the utility of organoids in diagnosing uncovered pathologies.
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Células-Tronco Pluripotentes Induzidas , Organoides , Diferenciação Celular , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Metaplasia/metabolismo , Mutação , Organoides/metabolismo , EstômagoRESUMO
Background: Cranial fasciitis (CF) is a benign (myo)fibroblastic proliferation of children. Typical presentation consists of a rapidly growing solitary mass on the temporal or parietal cranium in the first 2 years of age. CF is characterized by a rapid growth followed by a relative slowdown and even growth arrest. The finding of somatic USP6 gene rearrangements demonstrating clonality in CF together with its clinical behavior places it in the category of diseases recently termed "transient neoplasia."Methods: Histological, immunohistochemical, and molecular findings of 18 patients with CF were retrospectively studied.Results: The tumor typically presented as a painless rapidly enlarging mass in the temporal region. Sixty-six percent of the cases harbored USP6 gene rearrangement. Nine patients were treated with gross total resection (GTR) and 9 with subtotal tumor resection (STR). Two patients treated with GTR had recurrence. Five patients treated with STR had progression-free disease for at least 10 months after surgery and in four patients the tumor regressed spontaneously a median 16 months after surgery.Conclusions: In this largest series to date, we reported the clinicopathological, immunohistochemical, and molecular findings of 18 pediatric cases of CF with emphasis on the clinical growth pattern of these tumors.
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Fasciite , Doenças Musculares , Neoplasias , Criança , Fasciite/genética , Fasciite/patologia , Rearranjo Gênico , Humanos , Doenças Musculares/genética , Neoplasias/genética , Estudos Retrospectivos , Ubiquitina Tiolesterase/genéticaRESUMO
BACKGROUND: Infants with advanced necrotizing enterocolitis (NEC) often need surgical resection of necrotic bowel. We hypothesized that incomplete resection of NEC lesions, signified by the detection of necrotic patches in margins of resected bowel loops, results in inferior clinical outcomes. METHODS: We reviewed the medical records of infants with surgical NEC in the past 15 years for demographic, clinical, and histopathological data. We also developed statistical models to predict mortality and hospital stay. RESULTS: Ninety infants with surgical NEC had a mean (±standard error) gestational age of 27.3 ± 0.4 weeks, birth weight 1008 ± 48 g, NEC onset at 25.2 ± 2.4 days, and resected bowel length of 29.2 ± 3.2 cm. Seventeen (18.9%) infants who had complete resection of the necrosed bowel had fewer (4; 23.5%) deaths and shorter lengths of hospital stay. In contrast, a group of 73 infants with some necrosis within the margins of resected bowel had significantly more (34; 46.6%) deaths and longer hospital stay. The combination of clinical and histopathological data gave better regression models for mortality and hospital stay. CONCLUSION: In surgical NEC, incomplete resection of necrotic bowel increased mortality and the duration of hospitalization. Regression models combining clinical and histopathological data were more accurate for mortality and the length of hospital stay. IMPACT: In infants with surgical NEC, complete resection of necrotic bowel reduced mortality and hospital stay. Regression models combining clinical and histopathological information were superior at predicting mortality and hospital stay than simpler models focusing on either of these two sets of data alone. Prediction of mortality improved with the combination of antenatal steroids, chorioamnionitis, and duration of post-operative ileus, with severity of inflammation and hemorrhages in resected intestine. Length of hospital stay was shorter in infants with higher gestational ages, but longer in those with greater depth of necrosis or needing prolonged parenteral nutrition or supervised feedings.
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Procedimentos Cirúrgicos do Sistema Digestório/mortalidade , Enterocolite Necrosante/mortalidade , Enterocolite Necrosante/cirurgia , Intestinos/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Enterocolite Necrosante/patologia , Feminino , Idade Gestacional , Mortalidade Hospitalar , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Intestinos/patologia , Tempo de Internação , Masculino , Margens de Excisão , Necrose , Nutrição Parenteral , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
Lymphocytic colitis is a subtype of microscopic colitis that is mostly seen in adults. It presents mainly as chronic nonbloody diarrhea, with the hallmark of normal or near-normal endoscopy. In this case series, we are presenting 4 pediatric patients with lymphocytic colitis with prominent apoptosis of the colonic gland epithelium. Remarkably, all the patients have genetic mutations known to be associated with autoimmune enteropathy. Three patients have a CTLA4 mutation, and 1 patient has an STAT3 mutation. These mutations were previously reported in association with inflammatory bowel disease, but a specific connection with lymphocytic colitis has not been described. This report investigates the histopathology of such lesions in children and adolescents.
Assuntos
Antígeno CTLA-4/genética , Colite Linfocítica/patologia , Colo/patologia , Imunidade Celular , Mucosa Intestinal/patologia , Mutação , Fator de Transcrição STAT3/genética , Adolescente , Apoptose , Criança , Colite Linfocítica/genética , Colite Linfocítica/imunologia , Colo/imunologia , Marcadores Genéticos , Humanos , Mucosa Intestinal/imunologia , MasculinoRESUMO
A young man presented with blue nodules on the trunk, face, and extremities that gradually increased in number and size. His mother had similar lesions. Initially, blue rubber bleb nevus syndrome was suspected, but histological findings confirmed the diagnosis of hereditary glomuvenous malformations. Making the correct diagnosis spares the patient unnecessary evaluation for the arteriovenous malformations of the gastrointestinal tract associated with the former diagnosis.
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Tumor Glômico/patologia , Paraganglioma Extrassuprarrenal/patologia , Neoplasias Cutâneas/patologia , Adolescente , Diagnóstico Diferencial , Neoplasias Gastrointestinais/diagnóstico , Tumor Glômico/diagnóstico , Humanos , Masculino , Nevo Azul/diagnóstico , Paraganglioma Extrassuprarrenal/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
Microscopic examination of esophageal biopsies is essential to diagnose eosinophilic esophagitis (EoE). Eosinophil inflammation is the basis for the diagnosis, but additional abnormalities may contribute to persistent symptoms and epithelial barrier dysfunction. Both peak eosinophil count and assessments of additional features should be included in pre-therapy and post-therapy pathology reports. Pathologic abnormalities identified in esophageal biopsies of EoE are reversible in contrast to esophageal strictures.
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Enterite , Eosinofilia , Esofagite Eosinofílica , Gastrite , Humanos , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/terapia , Eosinófilos , BiópsiaRESUMO
Eosinophilic gastrointestinal diseases (EGID), such as eosinophilic gastritis (EoG), eosinophilic enteritis, and eosinophilic colitis (EoC), are chronic inflammatory conditions characterized by persistent gastrointestinal symptoms and elevated levels of activated eosinophils in the gastrointestinal tract. EoG and eosinophilic duodenitis (EoD) are strongly associated with food allergen triggers and TH2 inflammation, whereas EoC shows minimal transcriptomic overlap with other EGIDs. The level of expression of certain genes associated with TH2 immune response is associated with certain histopathologic findings of EoG, EoD, and EoC. Current immune therapy for EoG depletes tissue eosinophilia with persistence of other histopathologic features of disease.
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Enterite , Eosinofilia , Esofagite Eosinofílica , Gastrite , Humanos , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/terapia , Enterite/diagnóstico , Enterite/terapia , Gastrite/diagnóstico , Gastrite/terapia , InflamaçãoRESUMO
Background: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and cardiac ventricular hypertrophy. GBE1 sequencing identified two variants: a known pathogenic missense variant, c.1544G>A (p.Arg515His), and a missense variant of unknown significance (VUS), c.2081T>A (p. Ile694Asn). As a liver transplant alone can exacerbate heart dysfunction in GSD4 patients, a precise diagnosis is essential for liver transplant indication. To characterize the disease-causing variant, we modeled patient-specific GBE1 deficiency using CRISPR/Cas9 genome-edited induced pluripotent stem cells (iPSCs). Methods: iPSCs from a healthy donor (iPSC-WT) were genome-edited by CRISPR/Cas9 to induce homozygous p.Ile694Asn in GBE1 (iPSC-GBE1-I694N) and differentiated into hepatocytes (iHep) or cardiomyocytes (iCM). GBE1 enzyme activity was measured, and PAS-D staining was performed to analyze polyglucosan deposition in these cells. Results: iPSCGBE1-I694N differentiated into iHep and iCM exhibited reduced GBE1 protein level and enzyme activity in both cell types compared to iPSCwt. Both iHepGBE1-I694N and iCMGBE1-I694N showed polyglucosan deposits correlating to the histologic patterns of the patient's biopsies. Conclusions: iPSC-based disease modeling supported a loss of function effect of p.Ile694Asn in GBE1. The modeling of GBE1 enzyme deficiency in iHep and iCM cell lines had multi-organ findings, demonstrating iPSC-based modeling usefulness in elucidating the effects of novel VUS in ultra-rare diseases.
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Fibrosing cholangiopathies, including biliary atresia and primary sclerosing cholangitis, involve immune-mediated bile duct epithelial injury and hepatic bile acid (BA) retention (cholestasis). Regulatory T-cells (Tregs) can prevent auto-reactive lymphocyte activation, yet the effects of BA on this CD4 lymphocyte subset are unknown. Gene regulatory networks for hepatic CD4 lymphocytes in a murine cholestasis model revealed Tregs are polarized to Th17 during cholestasis. Following bile duct ligation, Stat3 deletion in CD4 lymphocytes preserved hepatic Treg responses. While pharmacological reduction of hepatic BA in MDR2-/- mice prompted Treg expansion and diminished liver injury, this improvement subsided with Treg depletion. A cluster of patients diagnosed with biliary atresia showed both increased hepatic Treg responses and improved 2-year native liver survival, supporting that Tregs might protect against neonatal bile duct obstruction. Together, these findings suggest liver BA determine Treg function and should be considered as a therapeutic target to restore protective hepatic immune responses.
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OBJECTIVES: Granular cell tumor (GCT) commonly presents in the subcutaneous tissue and head and neck region, and it is uncommon in the gastrointestinal tract. Experience with esophageal GCTs in the pediatric population is limited, with only 7 cases reported in the literature, 3 with eosinophilic esophagitis (EoE). METHODS: Case information from 11 pediatric patients with GCTs of the esophagus was retrieved. H&E and immunohistochemical slides were reviewed with clinical, endoscopic, and follow-up data from all patients. RESULTS: In total, 7 male and 4 female patients were included, with ages ranging from 3 to 14 years. Indications for esophagogastroduodenoscopy (EGD) included EoE (n = 3), follow-up for Crohn disease, and other nonspecific complaints. Endoscopically, all patients had a single submucosal, firm mass protruding into the lumen, with normal overlying mucosa. The nodules were removed endoscopically in multiple fragments in all cases. Histologically, the tumors showed sheets and trabeculae of cells containing bland nuclei, inconspicuous nucleoli, and abundant pink granular cytoplasm without atypical features. All tumors were immunoreactive for S100, CD68, and SOX10. Follow-up showed that all patients were disease-free (median, 2 years). CONCLUSIONS: We report the largest series of pediatric esophageal GCTs with coincidental association with EoE. These EGD findings are characteristic, and removal by biopsy is both diagnostic and therapeutic.
Assuntos
Neoplasias Esofágicas , Tumor de Células Granulares , Humanos , Masculino , Criança , Feminino , Imuno-Histoquímica , Tumor de Células Granulares/complicações , Tumor de Células Granulares/patologia , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/patologia , BiópsiaRESUMO
Intestinal colonization by antigenically foreign microbes necessitates expanded peripheral immune tolerance. Here we show commensal microbiota prime expansion of CD4 T cells unified by the Kruppel-like factor 2 (KLF2) transcriptional regulator and an essential role for KLF2+ CD4 cells in averting microbiota-driven intestinal inflammation. CD4 cells with commensal specificity in secondary lymphoid organs and intestinal tissues are enriched for KLF2 expression, and distinct from FOXP3+ regulatory T cells or other differentiation lineages. Mice with conditional KLF2 deficiency in T cells develop spontaneous rectal prolapse and intestinal inflammation, phenotypes overturned by eliminating microbiota or reconstituting with donor KLF2+ cells. Activated KLF2+ cells selectively produce IL-10, and eliminating IL-10 overrides their suppressive function in vitro and protection against intestinal inflammation in vivo. Together with reduced KLF2+ CD4 cell accumulation in Crohn's disease, a necessity for the KLF2+ subpopulation of T regulatory type 1 (Tr1) cells in sustaining commensal tolerance is demonstrated.
Assuntos
Linfócitos T CD4-Positivos , Microbiota , Camundongos , Animais , Interleucina-10/metabolismo , Linfócitos T Reguladores , Fatores de Transcrição/metabolismo , Inflamação/metabolismo , Fatores de Transcrição Kruppel-Like/metabolismoRESUMO
Gastrointestinal biopsies represent an increasing proportion of the paediatric pathologist's workload, an increase fundamentally due to an expansion of the understanding of the basic clinical, molecular, genetic, and histopathological features of paediatric gastrointestinal disorders. The histological interpretation of endoscopically retrieved gastrointestinal biopsies in children requires a unique set of diagnostic expertise and detailed knowledge of various gastrointestinal disorders that have a predilection for the paediatric population. This article's major role is to highlight the unique problems inherent to paediatric gastrointestinal disorders that require immediate communication with the paediatric surgeon or the gastroenterologist. For this, we tried to cover the most important diseases that a paediatric pathologist might encounter in daily practice. Some of these diseases are relatively rare, such as microvillous inclusion disease and tufting enteropathy, but some are more common such as eosinophilic disorders and inflammatory bowel disease. Awareness of the histopathological features of these diseases, particularly those that are relatively uncommon, is crucial to spare the patient a lengthy and costly evaluation. We made a particular effort to abundantly reference this article should the reader wish to expand on the content of any section.
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Gastroenteropatias/diagnóstico , Gastroenteropatias/patologia , Criança , Diagnóstico Diferencial , Humanos , PediatriaRESUMO
BACKGROUND: Pediatric patients with intestinal failure are at increased risk for iron deficiency. Supplementation is not routinely included in parenteral nutrition solutions. There is currently limited research related to the safety of iron supplementation in parenteral nutrition and for intravenous forms used in patients with intestinal failure. Current American Society for Parenteral and Enteral Nutrition and ESPGHAN guidelines promote the use of enteral iron, acknowledging the risks of using iron supplementation within parenteral nutrition admixtures. METHODS: We review a patient case and the current available literature related to iron in parenteral nutrition. RESULTS: Five major concerns are identified: peroxidation reactions, incompatibility, hypersensitivity, infection risk, and iron overload. CONCLUSION: We propose an argument against the preferential use of iron supplementation within parenteral nutrition in children with intestinal failure when enteral supplementation or intermittent parenteral infusion may be sufficient.
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Insuficiência Intestinal , Ferro , Nutrição Parenteral , Criança , Humanos , Suplementos Nutricionais/efeitos adversos , Insuficiência Intestinal/terapia , Ferro/efeitos adversos , Nutrição Parenteral/métodos , Soluções de Nutrição ParenteralRESUMO
Eosinophilic gastrointestinal disorders (EGIDs) are a collection of disorders characterized by allergy-driven inflammation of the gastrointestinal (GI) tract. Affected patients typically present with nonspecific symptoms of GI dysfunction and are frequently found to have mucosal abnormalities during endoscopy as well as increased eosinophil levels on tissue biopsy that are felt to be responsible for generating the clinical findings. Each of these findings is important in both the diagnosis and management of EGIDs. Understanding the impact of histopathologic and endoscopic changes on clinical signs and symptoms is critical to developing an understanding of the natural history of these disorders as well as to the generation of validated assessment tools and targeted therapies. We explore these relationships in this review.
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Enterite , Eosinofilia , Gastrite , Enterite/diagnóstico , Eosinofilia/diagnóstico , Gastrite/diagnóstico , Humanos , InflamaçãoRESUMO
Four male infants with cystic fibrosis and prolonged neonatal jaundice underwent Kasai procedure to relieve biliary obstruction due to apparent biliary atresia. The excised remnants had viscid mucus accumulation in hypoplastic gallbladders and distended peribiliary glands. Main hepatic ducts were narrow and/or malformed. Microscopic differences between the gallbladder and extrahepatic bile ducts in cystic fibrosis and sporadic biliary atresia were unequivocal, despite some histologic overlap; no erosive or fibro-obliterative lesions typical of biliary atresia were seen. Common in liver, biopsies were small duct cholangiopathy with intense focal cholangiolitis and massive accumulation of ceroid pigment within damaged cholangiocytes, and in portal macrophages, portal fibrosis, and unequivocal features of large duct obstruction were inconspicuous compared with biliary atresia. Plugs of bile in small ducts tended to be pale and strongly periodic acid-Schiff-reactive in cystic fibrosis. Distinguishing the liver lesion from that of biliary atresia is challenging but possible. Liver biopsies from 2 additional infants with cystic fibrosis and prolonged jaundice that spontaneously resolved showed a similar small duct cholangiopathy. Small gallbladders and extrahepatic ducts challenge surgical judgment as findings in liver biopsies challenge the pathologist. The decision to perform a Kasai procedure is reasonable when mimicry of biliary atresia is grossly complete. We hypothesize that a disorder of bile volume/flow during development and/or early infancy linked to the CFTR mutation alone or in combination with the stresses of neonatal intensive care causes destructive cholangiolitis and intrahepatic reduction of bile flow with secondary hypoplasia of extrahepatic biliary structures.
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Ductos Biliares Extra-Hepáticos/patologia , Atresia Biliar/patologia , Colestase Extra-Hepática/patologia , Fibrose Cística/complicações , Icterícia Neonatal/patologia , Portoenterostomia Hepática , Ductos Biliares Extra-Hepáticos/cirurgia , Atresia Biliar/cirurgia , Biópsia , Colestase Extra-Hepática/etiologia , Colestase Extra-Hepática/cirurgia , Fibrose Cística/diagnóstico , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Icterícia Neonatal/etiologia , Icterícia Neonatal/cirurgia , Masculino , Valor Preditivo dos Testes , Resultado do TratamentoRESUMO
CONTEXT.: Congenital mature teratomas of the umbilical cord are extremely rare and pose a challenge in prenatal diagnosis. Mature teratomas are defined as tumors composed of mature tissues derived from more than 1 germ cell layer. The tumor often shows solid and cystic components, which adds to the difficulty of prenatal diagnosis. Although benign, mature teratomas of the umbilical cord are commonly associated with congenital malformations of the fetus with variable severity and rarely, with chromosomal abnormalities. OBJECTIVE.: To review the clinical, radiologic, gross, and histologic features of umbilical cord teratoma; its differential diagnosis; and to emphasize the increased risk of associated congenital malformations. DATA SOURCES.: Umbilical cord teratoma cases published in the literature. CONCLUSIONS.: Umbilical cord teratomas are difficult to diagnose by imaging studies alone and require histopathologic examination for diagnosis. Given the increased risk of associated anomalies and malformations, the finding of umbilical cord teratoma should trigger a detailed and comprehensive evaluation of the neonate for additional abnormalities.
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Teratoma/patologia , Cordão Umbilical/patologia , Feminino , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
CONTEXT.: Chondroblastoma-like osteosarcoma is an exceedingly rare variant of osteosarcoma, with 22 cases reported in the English-language literature. The tumor is slightly more common in males, with a broad age range (from childhood to elderly). The most commonly involved bones are the metatarsus and tibia, followed by the femur. Most tumors have malignant or worrisome radiographic findings. Prognosis is variable, depending on the presence or absence of lung metastases, local recurrence, and probably tumor location. Histologically, chondroblastoma-like osteosarcoma is characterized by monotonous, minimally to moderately atypical rounded cells with ovoid nuclei resembling chondroblastoma, and abnormal osteoid deposition with destruction of the bone. OBJECTIVE.: To review the clinical, radiographic, and histopathologic features of chondroblastoma-like osteosarcoma. DATA SOURCES.: PubMed-published chondroblastoma-like osteosarcoma cases in the English-language literature. CONCLUSIONS.: Although exceedingly rare, chondroblastoma-like osteosarcoma should be considered in the differential diagnosis of chondroblastoma, especially in the presence of radiologic findings suggestive of an aggressive lesion.
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Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Osteossarcoma/diagnóstico , Osteossarcoma/patologia , Condroblastoma/diagnóstico , Diagnóstico Diferencial , HumanosRESUMO
In the pediatric population, Gastric Intestinal Metaplasia (GIM) is a finding with unknown frequency and, more importantly, unknown clinical implications. The relationship between Helicobacter pylori (HP) infection and GIM is well documented, as well as an association between duodenogastric reflux and GIM. We present two cases of pediatric patients with GIM along with a review of the literature. The diagnosis of GIM may have adverse clinical implications and should be made with caution in a child. The association of GIM and adenoma/dysplasia and carcinoma is rarely seen in children, primarily because the time required for these to develop takes the individual into adulthood. Treatment, long-term consequences, and surveillance protocols are not well established in the pediatric population. Studies to evaluate the long-term natural history, treatment, and surveillance protocols in children with GIM are needed.