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Background: Peripheral neuroblastic tumors arise from the sympathoadrenal lineage of the neural crest. They have been classified according to the International Neuroblastoma Pathology Committee (INPC) into Four categories according to International Neuroblastoma Pathology Committee (INPC): a) Neuroblastoma (NB) b) Ganglioneuroblastoma (GNB), nodular c) Ganglioneuroblastoma, intermixed, and d) Ganglioneuroma (GN). Because of the rarity of extra-adrenal peripheral neuroblastic tumors, limited information is available regarding the chemotherapy of NB and GNB. A few case reports or case series with a small number of patients have been documented in the literature. Aim: To describe the clinicopathological characteristics of extra-adrenal peripheral neuroblastic tumors. Materials and Methods: Clinical, histopathological, and immunohistochemistry (IHC) findings of 18 cases were retrieved. Immunohistochemistry at the time of diagnosis was performed using Ventana Benchmark XT. The mean value was calculated using the Microsoft Office Excel 2019 software. Results: The posterior mediastinum was the most commonly affected extra-adrenal site in our study. Neuroblastoma consisted of eight cases (six in children, two in adults), of which four cases were poorly differentiated and the other four cases were differentiating. Two cases had favorable histology. The bone marrow and cervical lymph node metastasis were documented. Of the four GNB cases, one patient developed bone metastasis. All patients of NB and GNB received combination chemotherapy. One out of six GN patients presented with a large retroperitoneal mass encasing the aorta and renal vessels, mimicking a sarcoma. Conclusion: Extra-adrenal peripheral neuroblastic tumors do not pose any diagnostic issue in adequate tissue sampling. In limited material, immunohistochemistry is needed. The chemotherapy regimen has not been standardized due to rarity. Further molecular testing and targeted therapy may be of help in the future.
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El síndrome de Opsoclonus mioclonus ataxia (SOMA) es una entidad infrecuente en niños, caracterizada por Opsoclonus, mioclonías / ataxia y alteraciones de conducta o de sueño. En la actualidad representa una gran morbilidad dada su naturaleza paraneoplásica y autoinmune; destaca su asociación frecuente con tumores neuroblásticos y su tendencia hacia la cronicidad, recaídas y secuelas en el neurodesarrollo. Se revisa el caso de lactante de 13 meses, uno de los casos reportados a más temprana edad en Colombia, cuyo motivo de consulta fue irritabilidad, temblor distal, opsoclonía, con pruebas negativas para neuroinfección. Posteriormente a estudios se describieron dos masas en ápice torácico izquierdo, una de ellas entre carótida interna y yugular externa. La masa más grande fue de manejo quirúrgico; la patología reportó ganglioneuroblastoma de patrón nodular. No se logró resección quirúrgica completa y tuvo recaída de síntomas; como complicación posquirúrgica se presentó síndrome de Horner incompleto. Al tener difícil acceso quirúrgico se optó por manejo con poliquimioterapia protocolo de riesgo intermedio del COG (Children Oncology Group), que recibió por un año con resolución completa del cuadro clínico. Se presenta el caso de lactante con SOMA de difícil manejo, en el cual el abordaje quirúrgico falló y se requirió terapia complementaria. La quimioterapia se convierte en una opción de manejo cuando la resección quirúrgica no sea completa.
SUMMARY The opsoclonus myoclonus ataxia syndrome (OMA) is an infrequent entity in children, characterized opsoclonus, myoclonus/ataxia, sleep pattern or behavioral alterations. It represents great morbidity given its paraneoplastic and autoimmune nature; it is frequently associated with neuroblastic tumors and its tendency towards chronicity, relapses and neurodevelopmental sequels. We examine the case of a previously healthy thirteen months toddler, one of the earliest age reported cases in Colombia, who consulted for irritability, distal tremor, opsoclonus, and had negative neuroinfection tests. It was reported, after additional studies, the presence of 2 masses in the left pulmonary apex; one of them between the internal carotid artery and the external jugular vein. The bigger mass was surgically removed; pathology reported a ganglioneuroblastoma with nodular pattern. It was not possible to make full surgical resection and the patient experienced a relapse; as a postsurgical complication the patient had transient incomplete Horner syndrome. Due to difficult surgical access, chemotherapy was used for a whole year following the intermediate risk protocol developed by the COG (Children Oncology Group) with full resolution of the symptoms. We present the case of a toddler with difficult surgical approach where the surgical treatment failed, and complementary chemotherapy was needed. Chemotherapy turns into a therapeuthic option when surgical resection is not complete.
Subject(s)
Ganglioneuroblastoma , Opsoclonus-Myoclonus Syndrome , Infant , Paraneoplastic SyndromesABSTRACT
Objective ToimprovethediagnosticaccuracybyassessingtheCTfeaturesofganglioneuroblastoma(GNB).Methods 38patientswithGNBconfirmedbypathologicalresultsandunderwentplainandcontrast-enhancedCTscanwereanalyzedretrospectively. Results GNBoftenoccurredinchildren.Allthecasesappearedassolitarylesion,7werelocatedinthemediastinum,12intheadrenal,15inthe retroperitoneal,3inthethoraxcavityand1inthepelviccavity.PlainCTshowed36lesionswithheterogeneouslowdensitywithnecrosisand cysticdegeneration,and28caseswithcalcifications,2withhomogeneouslowdensity.Thesolidlessionofallcasesshowedprogressive enhancement(4casesshowedslightprogressivecontrastenhancement,11casesshowed moderateenhancement,23casesshowed markedlyenhancement).Peripheralvesselsweredisplacedbytumorin19casesandembeddedbytumorin13cases.13casesshowed thepresenceofsmallvesselsin/aroundthetumorarrangedinclumpsorinline.Conclusion ThespecificCTfindingsofheterogeneouslowdensity withnecrosis,calcifications,peripheralvesselsdisplaced,moderatetomarkedlyprogressiveenhancement,mightbeusefulforthediagnosisofGNB.
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Neuroblastomas are among the most important tumors of extra cranial origin in pediatric patients. They arise from emyonal cells involved in the development of the sympathetic nervous system, whose differentiation has been arrested [1, 2]. This article describes an atypical presentation of ganglioneuroblastoma in a 52 year old male patient. X– Ray left hand in AP and Lateral views showed it as a soft tissue swelling. Excision was done under digital block, and excised specimen was sent to department of pathology for histo pathological examination. HPE showed it as gangioneuroblastoma and pathologists advised to get immunohistochemistry for cathepsin D to be done.
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Presentamos el caso de un niño de 9 años de edad, en quien como hallazgo incidental en una radiografía de tórax se observa una calcificación en el hipocondrio izquierdo sugestiva de masa. Se amplía el estudio mediante ecografía y resonancia magnética (RM) abdominal para mejor caracterización: se visualiza una masa suprarrenal izquierda, predominantemente quística, con un nódulo sólido. Finalmente, se le practica una resección quirúrgica, en la cual se llega al diagnóstico de ganglioneuroblastoma nodular quístico, tras el análisis histopatológico. El ganglioneuroblastoma quístico es un tumor poco frecuente, originado en las células ganglionares del sistema nervioso simpático. El sitio de origen más frecuente son las glándulas suprarrenales. A pesar de que el diagnóstico definitivo se suele realizar tras la resección quirúrgica del tumor, con la ecografía y la RM se debe incluir entre los diagnósticos diferenciales de incidentalomas suprarrenales en un niño o un paciente joven. Los hallazgos en tomografía computarizada son variables.
We present the case of a child patient aged 9 years, in whom, as an incidental finding in chest X-rays, a calcified lesion was observed in the left hypochondrium. The study is extended by ultrasound and then MRI was performed to better characterize it. These showed a left adrenal, predominantly cystic mass with a solid nodule. The surgical team decided to perform resection of the mass and submit it for histopathological examination. A definitive diagnosis of cystic nodular ganglioneuroblastoma was made. Ganglioneuroblastoma is a rare tumour, originating in ganglion cells of the sympathetic nervous system. The site of more frequent origin is in the adrenal glands. Although the majority are diagnosed based on the postoperative histological analysis, with ultrasound and MRI we should include it among the differentials diagnoses of adrenal incidentalomas in a child or young patient. The findings on CT are variables.
Subject(s)
Ganglioneuroblastoma , Child , Adrenal GlandsABSTRACT
Purpose To summarize the histological,immunophenotypic feature and MYCN (MYC gene) amplification results of peripheral neuroblastic tumours in children,and to predict its biological behavior and prognosis.Methods The histology and immunophenotype of 100 cases of neuroblastoma (NB) and ganglioneuroblastoma (GNB) were retrospectively analysed,MYCN status was detected in 60 cases.Results Among The average age of 100 cases of GN and GNB was 2.7 years old,and that of males was more than that of females.NB could be divided into three subtypes:undifferentiated,poorly differentiated and differentiating.GNB could be divided into two subtypes:intermixed (iGNB) and nodular (nGNB).Immunohistochemical staining showed neuroblastoma cells were positive for NSE,NF,PGP9.5,Syn,CgA in varying degree.Schwann cells were positive for S-100 and GFAP.MYCN amplification was detected in 1 1.67％ of the cases,and no MYCN amplification was seen in iGNB patients.Conclusion The diagnosis of peripheral neuroblastic tumours is mainly based on histological morphology,special tests (immunohistochemistry,electron microscope and cytogenetics) can helpful for identifing undifferentiated neuroblastoma cells.The prognosis of neuroblastoma derived tumors is evaluated according to the age of patients,the classification and staging of tumors,and molecular genetic alterations.
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Objective To build a more perfect serum protein ifngerprint models for early diagnosis of ganglioneuroblas-toma (GNB) in children. Methods Thirty children with GNB and 30 normal control children were recruited. Serum samples were collected. Nonspeciifc serum protein was detected and studied by MB-WCX processing, SELDI-TOF-MS mass spectrom-etry system and MALDI-TOF/TOF platform. Results Through the SELDL-TOX-MS processing, a peak at 5920 m/z protein markers, and the expression of the markers was high in GNB children (6180.6±2328), compared with normal control children (419.1±493.3), the difference was statistically signiifcant (P<0.05);MALDI-TOF/TOF platform showed that the protein with a peak at 5920 m/z is identiifed as ApoC-Ⅲ. Conclusions m/z peak of 5920 protein is suggested as speciifc biomarker of GNB in children, can provide signiifcant reference for early diagnosis of ganglioneuroblastoma, and prognostic monitoring.
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Ganglioneuromas are benign tumors. Surgical excision is the treatment of choice with very good prognosis. However, neuroblastomatous malignant transformation of ganglioneuromas was previously reported. We report a patient with spinal neuroblastoma recurrent from a ganglioneuroblastoma after disease free survival of 13 years. This is one of the rare examples of spinal neuroblastoma and to our knowledge the second case report with malignant transformation from a ganglioneuroblastoma or a ganglioneuroma. The present case is the only report in the literature with further genetic investigations.
Subject(s)
Humans , Disease-Free Survival , Ganglioneuroblastoma , Ganglioneuroma , Neuroblastoma , PrognosisABSTRACT
A case of adrenal ganglioneuroblastoma is presented here. This adrenal ganglioneuroblastoma was found in a 27-year-old female 7 months after delivery. CT clarified that the tumor originated retroperitoneally and was large in size (11.4 cm x 9.4 cm). The tumor was surgically removed together with pancreatic body and tail, left kidney and spleen, and pathological diagnosis was adrenal ganglioneuroblastoma-intermixed. Adrenal ganglioneuroblastoma is extremely rare in adults, with only about 9 cases documented including this case.
Subject(s)
Adult , Female , Humans , Adrenal Glands , Diagnosis , Ganglioneuroblastoma , Kidney , Spleen , TailABSTRACT
Cerebral ganglioneuroblastoma is an embryonal tumor of the central nervous system, which has been rarely encountered into the spinal cord. The standard treatment for ganglioneuroblastoma is complete surgical excision. A 15-year old boy was presented with cord compression. Magnetic resonance imaging revealed an intradural and intramedullar enhancing lesion over T2 spine. A histomorphological diagnosis was made in the presence of immature small round cells admixed with a good number of ganglion cells. The morphological diagnosis was verified by immunohistochemistry. This is the first reported case of compressive myelopathy in the thoracic region of the spine.
Subject(s)
Adolescent , Ganglioneuroblastoma/diagnosis , Ganglioneuroblastoma/epidemiology , Ganglioneuroblastoma/surgery , Humans , Male , Spinal Cord Neoplasms/diagnosis , Spinal Cord Neoplasms/epidemiology , Spinal Cord Neoplasms/surgery , Thoracic Vertebrae/pathologyABSTRACT
Se presentó un caso raro de ganglioneuroblastoma sacro en un paciente de 32 años de edad, con evolución tórpida. Se presentan datos clínicos, estudios imaginológicos e histológicos. Se realiza revisión del tema
This is a uncommon case of sacral ganglioneuroblastoma in a patient aged 32 with a torpid evolution. Clinical data, imaging and histological studies are showed. A review of this subject is carried out
Subject(s)
Humans , Ganglioneuroblastoma/pathology , Abdominal Neoplasms , Neuroblastoma/surgery , Sacrum/physiopathology , Tomography/methodsABSTRACT
Objective To explore the relationship between the expression of Ki67 and mitosis karyorrhexis index（MKI）in ganglioneuroblastoma（GNB）.Methods Clinical materials and histology slides from 28 patients with GNB were reviewed.MKI was counted under microscope and the expression of Ki67 protein in GNB was evaluated by immuohistochemical technique.The follow-up data were also collected and statistically analyzed.Results There were 15 patients with favourite prognosis（favourite subgroup,FS） and 13 patients with poor prognosis（unfavourite subgroup,US）.The survival time of GNB patient in FS was significantly longer than that in US（P 0.05）.The survival time is related to pathology classification（P 0.05）.MKI was correlated with advanced clinical stage,pathology classification and survival time（P 0.001）.No significant difference in Ki67 expression was found between low and high MKI patients.Conclusion MKI might be a reliable prognostic parameter for making diagnosis and evaluating prognosis of GNB.Detection of Ki67 expression might be not useful for evaluating the prognosis of GNB.
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Neuroblastoma is the most common extracranial solid tumor in children, and accompanies various clinical symptoms including hypertension. Hypertension is associated with catecholamines secreted from the tumor, and is usually not severe. We report one case of malignant hypertension with cardiac failure in a patient with adrenal neuroblastoma, successfully treated with adrenalectomy. A 3 year-old boy complained of protrusion of the chest wall. Physical examination revealed severe hypertension with cardiac failure. The levels of metabolites of catecholamine were increased in blood (norepinephrine >2000 pg/mL) and urine (norepinephrine 1350.5 ug/day). Abdominal CT showed a 7 cm-sized solid mass arising from the right adrenal gland. After stabilizing the hemodynamics with oral phenoxybenzamine, right adrenalectomy was performed. Pathological diagnosis was a ganglioneuroblastoma. The hypertension and cardiac failure were resolved after tumor removal.
Subject(s)
Child , Humans , Adrenal Glands , Adrenalectomy , Catecholamines , Ganglioneuroblastoma , Heart Failure , Hemodynamics , Hypertension , Hypertension, Malignant , Neuroblastoma , Phenoxybenzamine , Physical Examination , Polyenes , Thoracic WallABSTRACT
Crossed testicular ectopia is a rare anomaly, in which both testes migrate toward the same hemiscrotum. Fewer than 100 cases of this condition have been reported in the literature worldwide. Occasionally, conditions initially suspected to be crossed testicular ectopia have proven to be other anomalies, including hypospadias, renal agenesis, and seminal vesicle cysts. In this case, we diagnosed ganglioneuroblastoma in a patient with testicular ectopia.
Subject(s)
Female , Humans , Male , Congenital Abnormalities , Cryptorchidism , Ganglioneuroblastoma , Hypospadias , Kidney , Kidney Diseases , Seminal Vesicles , TestisABSTRACT
Ganglioneuroblastoma is a rare tumor originating from the sympathetic chain. It is intermediate between the highly malignant neuroblastoma and the benign ganglioneuroma. The predilection sites of ganglioneuroblastoma are the retroperitoneum and mediastinum but involvement of the structures around the spinal cord is infrequent. A 4 year-old girl who had progressive weakness in both lower extremities had a tiptoe gait for 2 months. A magnetic resonance imaging (MRI) study revealed a heterogeneous enhancing mass in the right mediastinum and paraspinal areas. A biopsy of the mass confirmed a ganglioneuroblastoma with many neuroblasts and nodules of ganglion cells. This is an unusual case of a child with spastic paraplegia caused by ganglioneuroblastoma of the thoracic cavity.
Subject(s)
Child , Child, Preschool , Female , Humans , Biopsy , Gait , Ganglion Cysts , Ganglioneuroblastoma , Ganglioneuroma , Lower Extremity , Magnetic Resonance Imaging , Mediastinum , Neuroblastoma , Paraplegia , Spinal Cord , Thoracic CavityABSTRACT
The presence of rare paraneoplastic syndrome, the opsoclonus-myoclonus-ataxia syndrome (OMA), may strongly signal the presence of neuroblastoma. We report a case of ganglioneuroblastoma presented with OMA. A 26 month-old girl was admitted due to progressive ataxic gait and myoclonic jerking of the limbs. Brain and spine MRI scans were normal and cerebrospinal fluid analysis showed no specific abnormal finding. Abdominal computed tomography (CT) demonstrated about 3x1.5 cm sized well enhancing solid mass originated from the right adrenal gland. Urinary vanillyl mandelic acid (VMA) was mildly elevated and urinary homovanillic acid (HVA) was normal. After complete resection of the tumor, she was diagnosed with ganglioneuroblastoma and her symptomatology had disappeared.
Subject(s)
Child, Preschool , Female , Humans , Adrenal Glands , Brain , Cerebrospinal Fluid , Extremities , Gait , Ganglioneuroblastoma , Homovanillic Acid , Magnetic Resonance Imaging , Myoclonus , Neuroblastoma , Paraneoplastic Syndromes , SpineABSTRACT
Objective To describe the CT characterization of retroperitoneal neuroganglionic tumor in order to get a better understanding of the disease. Methods Neuroganglionic tumors proved by operation and pathology (24 cases), as well as bone biopsy (2 cases), were studied in 18 males and 8 females. The mean age of neuroblastoma(14 cases), ganglioneuroblastoma(10 cases), and ganglioneuroma (2 cases) was 1 year 3 months, 3 years 6 months, and 6 years, respectively. Two cases of ganglioneuroma were complicated with leukemia and malignant pheochromocytoma. All cases were examined by CT scanning and 14 of them had contrast enhancement scanning preoperatively. 20 cases were also examined by ultrasound. Results The tumor sizes were 2.0 cm?2.5 cm?2.5 cm～16 cm?10 cm?8 cm. The tumors were all located in the retroperitoneal space, 22 cases were unilateral, 3 were situated in mid line prelumboscrally, and 1 was bilaterally located. The tumor were irregular in 20 cases and round shape in 6 cases; the tumor margin showed distinct in 14 cases and indistinct in 12 cases. Twenty five tumors showed mixture density and isointensity comparing with the kidney, 1 case with homogeneouse low density; 12 of 14 cases were enhanced inhomogeneously and 2 did not enhance; 23 of 26 cases showed different shapes of calcification. Retroperitoneal lymph nodes were swelling in 19 cases. Liver metastases were found in 3 cases, vascular encasement in 18 cases, tumor thrombus in inferior vena cava in 1 case,and tumor extending into spinal canal in 3 cases. Conclusion CT scanning can prompt the diagnosis of retroperitoneal neuroganglionic tumor and bolus injection of contrast medium can further increase the understanding of the abnormality within and around the tumor.
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The syndrome of watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome) is rare, and occasionally related with neurogenic tumors. A 20-month-old girl presenting symptoms of WDHA syndrome was transferred to our hospital. She had a ganglioneuroblastoma of adrenal gland. The serum level of VIP was elevated. After complete excision of tumor, all symptoms of WDHA syndrome were improved. The postoperative course was uneventful, and symptoms of WDHA syndrome disappeared. The serum level of VIP dropped to normal. The girl with postoperative chemotherapy and radiation therapy survived without evidence of disease for 33 months after complete resection.