RESUMO
Castleman's disease is an infrequent and usually benign lymphoproliferative disorder. Resection of the tumor usually is curative. The immunostimulatory nature of the tumor can, in rare instances, result in paraneoplastic manifestations. The authors present a case of a 14 year old with mucocutaneous ulcerations and progressive dyspnea that was found to have a large mediastinal mass and circulating autoantibodies that were responsible for his paraneoplastic pemphigus and bronchiolitis obliterans. In spite of aggressive immunotherapy to control the autoimmune mucocutaneous lesions, the pulmonary fibrosis was irreversible and progressed to pulmonary failure necessitating lung transplantation. J Pediatr Surg 36:E22.
Assuntos
Bronquiolite Obliterante/cirurgia , Hiperplasia do Linfonodo Gigante/cirurgia , Transplante de Pulmão , Neoplasias do Mediastino/cirurgia , Síndromes Paraneoplásicas/cirurgia , Pênfigo/cirurgia , Adolescente , Bronquiolite Obliterante/diagnóstico , Bronquiolite Obliterante/patologia , Hiperplasia do Linfonodo Gigante/diagnóstico , Hiperplasia do Linfonodo Gigante/patologia , Humanos , Masculino , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/patologia , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/patologia , Pênfigo/diagnóstico , Pênfigo/patologiaRESUMO
The association of alveolar capillary dysplasia with misalignment of pulmonary veins (ACD-MPV) and ocular abnormalities has not been previously reported. We present a case of ACD-MPV and anterior segment dysgenesis of the eye in a full-term infant as well as a review of the relevant literature.
Assuntos
Segmento Anterior do Olho/anormalidades , Malformações Arteriovenosas/diagnóstico , Anormalidades do Olho/diagnóstico , Hipertensão Pulmonar/congênito , Alvéolos Pulmonares/irrigação sanguínea , Veias Pulmonares/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Aniridia/diagnóstico , Aniridia/patologia , Segmento Anterior do Olho/patologia , Malformações Arteriovenosas/patologia , Biópsia , Capilares/anormalidades , Capilares/patologia , Diagnóstico Diferencial , Anormalidades do Olho/patologia , Humanos , Hipertensão Pulmonar/diagnóstico , Recém-Nascido , Pulmão/patologia , Masculino , Alvéolos Pulmonares/patologia , Veias Pulmonares/patologia , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , SíndromeRESUMO
We prospectively studied the circumferential distribution of ganglion cells in the transition zone from a study population of 21 patients with Hirschsprung disease (HD) undergoing a pull-through procedure over a 26-month period. Twelve cases were satisfactory for examination, in that the transition zone was contained within a single surgical specimen and specimen distortion was minimal. Ganglion cells in the submucosa were counted in all 12 cases. In seven of the cases, the transition zone was proximal to the rectal sleeve and myenteric plexus ganglion cells were also counted. We found an uneven circumferential distribution of ganglion cells in both myenteric plexus and submucosa of the transition zone, resulting in a "leading edge" of ganglion cells extending into aganglionic distal bowel. The maximum length of this leading edge was 2.4 cm and 2.1 cm in the myenteric plexus and submucosa, respectively. Ganglion cells at the tip of the leading edge were present in clusters of up to six ganglion cells, in marked contrast to an absence of ganglion cells for most of the remainder of the circumference. Closely spaced myenteric plexus ganglia were seen at the tip of the leading edge in some cases. The leading edge was more frequently observed along the antimesenteric side, but this was not statistically significant. Our findings have relevance in the interpretation of intraoperative biopsies at the time of pull-through surgery and subsequent biopsies of neorectum in patients with surgically corrected HD.
Assuntos
Colo/inervação , Doença de Hirschsprung/patologia , Reto/inervação , Biópsia , Contagem de Células , Pré-Escolar , Colo/cirurgia , Feminino , Seguimentos , Doença de Hirschsprung/cirurgia , Humanos , Lactente , Mucosa Intestinal/inervação , Período Intraoperatório , Masculino , Plexo Mientérico/patologia , Estudos Prospectivos , Reto/cirurgia , Plexo Submucoso/patologiaRESUMO
Gliomatosis peritonei, the implantation of neuroglial tissue upon the peritoneal surfaces, is a rare event most often associated with solid or immature teratomas of the ovary in young girls. The authors report a case of a 10-month-old girl with a ventriculoperitoneal shunt (VPS) who presented with bilateral inguinal hernias. Herniorrhaphy was uneventful. Microscopic examination of the hernia sacs showed exuberant mesothelial hyperplasia containing multiple nests of differentiated glial tissue. Subsequent computed tomography and laparoscopy disclosed normal ovaries with no evidence of intraabdominal or pelvic abnormalities. Gliomatosis peritonei in this case was attributed to transport of glial tissue from the cerebrospinal fluid into the peritoneal cavity via the shunt. With the exclusion of an ovarian germ cell neoplasm and in the presence of a VPS, the clinical course with regard to the glial implants in these children is uneventful. If it is appreciated that gliomatosis peritonei may be a complication of a VPS, an extensive clinical evaluation generally is unnecessary.
Assuntos
Coristoma/etiologia , Neuroglia , Doenças Peritoneais/etiologia , Derivação Ventriculoperitoneal/efeitos adversos , Coristoma/diagnóstico , Feminino , Hérnia Inguinal/cirurgia , Humanos , Lactente , Neoplasias Ovarianas/complicações , Doenças Peritoneais/diagnóstico , Teratoma/complicaçõesRESUMO
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a disorder that includes juvenile polyposis as part of its pathologic spectrum, and it recently has been shown to share phenotypic and genotypic features with Cowden's disease. In existing literature, descriptions of intestinal pathology in patients with BRRS are relatively sparse and occasionally erroneous. We describe the intestinal pathology in multiple specimens from three children with BRRS. Examination of gastrointestinal biopsies from these children revealed predominantly colonic and rectal polyps with the histology of juvenile polyps. Additionally, two cases with clusters of ectopic ganglion cells within the lamina propria, one in a colonic polyp and one in a duodenal biopsy, and an atypical polyp were observed. Bannayan-Riley-Ruvalcaba syndrome should be included in the list of differential diagnostic considerations when a child or young adult presents with a juvenile polyp, particularly if unusual histologic features such as atypical polyps or ectopic ganglion cells are encountered.
Assuntos
Polipose Adenomatosa do Colo/patologia , Síndrome do Hamartoma Múltiplo/patologia , Neoplasias Intestinais/patologia , Coristoma , Diagnóstico Diferencial , Feminino , Gânglios , Humanos , Lactente , Enteropatias/patologia , Masculino , SíndromeRESUMO
The clinical, pathologic, and immunohistochemical features of a widely disseminated tumor with rhabdoid phenotype are described in nine infants < or = 3 months of age. Five neonates had tumor evident at birth, two of which had placental metastases. The average survival following diagnosis was < 6 weeks. None of the infants had an apparent primary tumor in either the kidney or brain. In four cases, the dominant mass involved the head and neck region, and in two cases, the primary mass was paraspinal. The histologic features were those of a high-grade, round cell neoplasm with abundant cytoplasm and containing cells with cytoplasmic filamentous inclusions. Immunohistochemical studies revealed polyphenotypic antigen expression. Genetic information was available from eight of nine cases. Karyotype analysis revealed abnormalities of chromosome band 22q11-12 in three of six tumors. Fluorescence in situ hybridization studies or molecular studies demonstrated 22q11.2 deletions in all five cases with available frozen tissue, two of which had translocations involving 22q by karyotype analysis. The similar clinical and pathologic findings in these rapidly fatal tumors in infants and the demonstration of abnormalities of chromosome 22q11 in a majority of the cases supports their histogenetic and nosologic relationship to the family of malignant rhabdoid tumors that typically occur in young children in several anatomic sites, including kidney, soft tissues, liver, and brain. Like neuroblastoma and rhabdomyosarcoma, malignant rhabdoid tumor can appear as disseminated disease at birth or shortly thereafter.
Assuntos
Cromossomos Humanos Par 22/genética , Tumor Rabdoide/congênito , Tumor Rabdoide/genética , Citoesqueleto/ultraestrutura , Feminino , Deleção de Genes , Idade Gestacional , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/genética , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/ultraestrutura , Humanos , Técnicas Imunoenzimáticas , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Masculino , Prognóstico , Tumor Rabdoide/patologia , Tumor Rabdoide/ultraestruturaRESUMO
Few studies have analyzed the relationship among pathology, therapy-induced changes, proliferative activity, and outcome for rhabdomyosarcoma (RMS), despite the challenges of histopathologic interpretation of this tumor after treatment. Although cytodifferentiation and decreased mitotic activity after treatment were documented previously, the clinical consequences of these changes are uncertain because of the small number of cases analyzed. We analyzed 16 RMSs with pre- and post-treatment specimens for clinicopathologic features, outcome, and immunohistochemical data on formalin-fixed, paraffin-embedded tissue for vimentin, smooth muscle actin, muscle-specific actin, desmin, myoglobin, p53 protein, topoisomerase II-alpha, and MIB-1 proliferative activity. Four of eight alveolar (ARMS), five of five botryoid (BRMS), and two of three nonbotryoid embryonal (ERMS) RMSs displayed varying degrees of post-therapeutic histologic maturation and expressed one or more myoid markers. The remaining five RMSs had no cytodifferentiation. Myoid marker expression did not change significantly. In BRMS, MIB-1 and topoisomerase II-alpha proliferative activity decreased after therapy and correlated with cytodifferentiation and survival. This relationship was less clear for ERMS and ARMS. Five nonbotryoid RMSs without cytodifferentiation had either unchanged or increased proliferative activity, and four of these patients died of RMS. Six nonbotryoid RMSs with both cytodifferentiation and residual foci of undifferentiated cells had variable outcomes, including longer survival. We conclude that BRMS and ERMS exhibit therapy-induced cytodifferentiation more frequently than does ARMS. Cytodifferentiation and decreased proliferative activity are associated with favorable outcome in BRMS; unchanged or increased post-therapeutic proliferative activity suggests aggressive biologic potential in ERMS and ARMS. Combined patterns of cytodifferentiation and residual undifferentiated foci might be associated with increased, decreased, or unchanged proliferative activity and are difficult to interpret, but the presence of cytodifferentiation might presage an improved survival. Immunohistochemical analysis for proliferation markers might be useful for highlighting foci of less differentiated RMS or cytodifferentiated tumor cells in contrast to non-neoplastic, terminally differentiated muscle cells.
Assuntos
Diferenciação Celular , DNA Topoisomerases Tipo II , Rabdomiossarcoma/patologia , Actinas/análise , Adolescente , Antígenos de Neoplasias/análise , Antígenos Nucleares , Biomarcadores/análise , Criança , Pré-Escolar , DNA Topoisomerases Tipo II/análise , Proteínas de Ligação a DNA , Desmina/análise , Feminino , Humanos , Imuno-Histoquímica , Lactente , Isoenzimas/análise , Antígeno Ki-67 , Masculino , Mioglobina/análise , Proteínas Nucleares/análise , Rabdomiossarcoma/química , Rabdomiossarcoma/terapia , Resultado do Tratamento , Vimentina/análiseRESUMO
Low-grade astrocytomas are the most common central nervous system (CNS) tumor occurring in the pediatric age group. Although many of these tumors are karyotypically normal, various studies have reported gains of chromosomes in a significant proportion of cases. We have the opportunity to karyotype two pilocytic astrocytomas occurring in 5- and 15-year-old children. These tumors were characterized by stemlines of 49,XY,+4,+7,+8 and 48,XX,+7,+8. Using these patients as index cases and based on additional karyotypic data that have been published, we performed fluorescence in situ hybridization on 25 additional cases of low-grade astrocytomas in children using pericentromeric probes for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 15, and 17. Six of 18 (excluding the two index cases), or one third, of the pilocytic astrocytomas were characterized by chromosomal gains, most commonly chromosomes 7 and 8, suggesting that trisomy 7 and 8 are relatively common events in the tumorigenesis of pilocytic astrocytomas. In contrast, chromosomal trisomies were not detected in seven well-differentiated fibrillary astrocytomas with any of the probes chosen.
Assuntos
Astrocitoma/genética , Neoplasias Encefálicas/genética , Aberrações Cromossômicas , Neoplasias dos Nervos Cranianos/genética , Doenças do Nervo Óptico/genética , Adolescente , Adulto , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Mapeamento Cromossômico , Neoplasias dos Nervos Cranianos/patologia , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Doenças do Nervo Óptico/patologiaRESUMO
The role of mucosal biopsy in the monitoring of pediatric intestinal allografts is analyzed. We performed a retrospective review of all biopsy, resection, and autopsy material from 22 bowel allografts in 21 patients, followed from 6 months to 3 1/4 years and treated on an immuno-suppressive regimen based on FK 506 (Tacrolimus). There were 579 biopsies, of which 35 were stomal, with two to three fragments taken at each biopsy. There were three explanted bowels and three autopsies. Stomal biopsies proved to be inappropriate for monitoring. Biopsies with three to five pieces of tissue per site, under endoscopic direction, provided the most information. Early cellular infiltrate with lymphoid activation in the absence of epithelial apoptotic figures was not considered sufficient to diagnose rejection although preceded it in most instances. At least two apoptotic figures in a gland or several single apoptotic cells in the presence of a lymphoid infiltrate with activated lymphoid follicles and prominent endothelium correlate best with clinical rejection and response to antirejection measures. Epstein-Barr viral disease is common in this population, and early, late, and noncontiguous bowel involvement can be subtle and difficult to distinguish from rejection, though without the apoptosis. Epstein-Barr virus in situ probes are essential to make the differential diagnosis and the two conditions may co-exist. Mucosal biopsy monitoring appears to be of clinical utility and is part of a program that involves clinical, endoscopic, microbiological, and morphologic assessment.
Assuntos
Intestino Delgado/patologia , Intestino Delgado/transplante , Adolescente , Criança , Pré-Escolar , Feminino , Rejeição de Enxerto/patologia , Humanos , Lactente , Masculino , Transplante de Órgãos/mortalidade , Transplante de Órgãos/patologia , Transplante HomólogoRESUMO
In a series of nine stereotaxic large-core biopsies of calcifications, radiography of the specimen was used to ensure that appropriate tissue was removed. In eight cases, calcifications were evident at radiography as well as at histologic evaluation. Four cases were malignant and four were benign, and in one case in which calcification was not evident at either radiographic or histologic evaluation, a benign process was confirmed at surgical excision. Radiography of the specimen is a key component in diagnosis of breast calcifications sampled with large-core technique.