This paper reports the case of a 10-month-old male infant with Beckwith-Wiedemann syndrome (BWS) who presented with a reducible right inguinal mass and an empty scrotum for 10 months and was admitted for elective surgery. Preoperative ultrasonography revealed a right adrenal mass, which was pathologically diagnosed as ganglioneuroblastoma (GNB) after surgical excision. The patient exhibited characteristic features of BWS, including omphalocele, flame-shaped nevus on the forehead, bilateral earlobe creases, and embryonal tumor. Next-generation sequencing identified a heterozygous mutation in the CDKN1C gene (chr11:2905365), confirming the diagnosis of BWS. Early diagnosis, standardized management, and tumor surveillance are crucial for improving prognosis in children with BWS. Ultrasonography enables early detection of tumors and informs clinical decision-making regarding intervention.
Humans ; Beckwith-Wiedemann Syndrome/genetics* ; Male ; Ganglioneuroblastoma/complications* ; Infant ; Cyclin-Dependent Kinase Inhibitor p57/genetics* ; Mutation

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.
Disease-Free Survival ; Ganglioneuroblastoma* ; Ganglioneuroma ; Humans ; Neuroblastoma* ; Prognosis

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.
Adrenal Glands ; Adult* ; Diagnosis ; Female ; Ganglioneuroblastoma* ; Humans ; Kidney ; Spleen ; Tail

Ganglioneuroblastoma ; complications ; Humans ; Infant ; Male ; Paraneoplastic Cerebellar Degeneration ; etiology ; Tomography, X-Ray Computed

OBJECTIVETo study the clinicopathologic characteristics of peripheral neuroblastic tumors and to evaluate the prognostic significance of these features.

METHODSThe clinical and pathologic findings were retrospectively reviewed in 121 cases of peripheral neuroblastic tumor. The clinical outcomes of patients were evaluated. The three-year event-free survival rate was analyzed, with respect to age of patients, Evan's staging, International Neuroblastoma Pathology Classification and mitosis-karyorrhexis index.

RESULTSThe median age at diagnosis was 2.7 years; and 96 cases (79.3%) occurred in patients younger than 5 years old. The number of cases in Evan's staging I, II, III, IV and IVs was 24, 39, 24, 29 and 5, respectively. There were 82 cases of neuroblastoma (NB) (including 2 cases of undifferentiated NB, 52 cases of poorly differentiated NB and 28 cases of differentiating NB), 9 cases of ganglioneuroblastoma, intermixed type (GNBi), 19 cases of ganglioneuroma, maturing type (GN) and 11 cases of ganglioneuroblastoma, nodular type (GNBn). Forty-nine cases were in the favorable histology subgroup and 72 cases in the unfavorable histology subgroup. The overall three-year event-free survival rate of the 121 cases was 73.0% ± 4.3%. The three-year event-free survival rates were associated with age (P = 0.002), Evan's staging (P = 0.000), histologic category (P = 0.000), mitosis-karyorrhexis index (P = 0.043), prognostic subgroup (P = 0.000).

CONCLUSIONSMost of the peripheral neuroblastic tumors occur in the children younger than 5 years old. It is composed of NB, GNBi, GN and GNBn. The three-year event-free survival rate is approximately 70%. Significant prognostic parameters include age of patients, Evan's staging, International Neuroblastoma Pathology Classification and mitosis-karyorrhexis index.

Age Factors ; Antigens, Nuclear ; metabolism ; Child ; Child, Preschool ; Disease-Free Survival ; Female ; Ganglioneuroblastoma ; metabolism ; pathology ; surgery ; Ganglioneuroma ; metabolism ; pathology ; surgery ; Humans ; Infant ; Infant, Newborn ; Male ; Neoplasm Staging ; Nerve Tissue Proteins ; metabolism ; Nestin ; metabolism ; Neuroblastoma ; metabolism ; pathology ; surgery ; Peripheral Nervous System Neoplasms ; metabolism ; pathology ; surgery ; Phosphopyruvate Hydratase ; metabolism ; Retrospective Studies ; S100 Proteins ; metabolism

OBJECTIVETo investigate the molecular genetic abnormalities of N-myc and C-myc, and their clinical pathological implications in pediatric neuroblastic tumors (NTs).

METHODSAbnormalities of N-myc were detected by interphase fluorescence in situ hybridization (FISH) technique in 246 cases of NTs, including neuroblastoma (NB,188 cases), ganglioneuroblastoma (GNB, 52 cases), ganglioneuroma (GN, 6 cases), and their association with the histological typing of the tumors and prognosis was analyzed. Abnormalities of C-myc were detected by FISH in 133 cases of NTs.

RESULTSOf the 246 cases of NTs, N-myc amplification was only found in 27 cases (11.0%, 27/246) of NB, but not in any cases of GNB or GN (P < 0.05). 89.0% (219/246) N-myc non-amplification were found in NTs, and it included N-myc gain in 175 cases (71.1%, 175/246) and normal N-myc in 44 cases (17.9%, 44/246). Univariate analysis indicated significantly (P = 0.012) poorer outcome in patients with N-myc amplification than N-myc non-amplification. However no significant difference was observed between N-myc gain cases and normal N-myc cases (P = 0.057). C-myc gain was found in 74 of 133 cases (55.6%) of NTs; no C-myc amplification or translocation was detected. Forty percent (6/15) of cases with N-myc amplification and 57.6% (68/118) of cases with N-myc non-amplification were accompanied by C-myc gain. The difference between N-myc amplification and non-amplification with C-myc gain was not significant (P > 0.05). Univariate analysis indicated that the outcome difference was not statistically significant between C-myc gain cases and normal C-myc cases (P = 0.357).

CONCLUSIONSThe incidence of N-myc amplification only found in NB is low in pediatric NTs in China. Patients with N-myc amplification predict poorer outcome. No amplification or translocation of C-myc is detected in NTs, whereas C-myc gain is relatively common in NTs. There is no obvious association between N-myc amplification and C-myc gain.

Adrenal Gland Neoplasms ; genetics ; pathology ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Ganglioneuroblastoma ; genetics ; pathology ; Ganglioneuroma ; genetics ; pathology ; Gene Amplification ; Genes, myc ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Mediastinal Neoplasms ; genetics ; pathology ; Neuroblastoma ; genetics ; pathology ; Survival Rate

Age Factors ; Child ; Child, Preschool ; Ganglioneuroblastoma ; genetics ; metabolism ; pathology ; ultrastructure ; Ganglioneuroma ; genetics ; metabolism ; pathology ; ultrastructure ; Gene Amplification ; Gene Expression Regulation, Neoplastic ; Humans ; Infant ; N-Myc Proto-Oncogene Protein ; Neoplasm Staging ; Neuroblastoma ; genetics ; metabolism ; pathology ; ultrastructure ; Nuclear Proteins ; genetics ; metabolism ; Oncogene Proteins ; genetics ; metabolism ; Peripheral Nervous System Neoplasms ; classification ; genetics ; metabolism ; pathology ; ultrastructure ; Prognosis ; Proto-Oncogene Proteins c-myc ; metabolism ; Receptor, trkA ; metabolism ; S100 Proteins ; metabolism

Neuroblastoma is a common tumor of children. We report a patient with extensive calvarial metastases of a neuroblastoma as an initial presentation. A 2-year-old girl presented with a history of gradually increasing head size and fever. A brain CT showed a multilobulated, large, extra-axial tumor involving both frontotemporoparietal areas with a sunray-spiculated hyperostosis of the skull and marked contrast enhancement. A brain MRI demonstrated extensive calvarial lesions with simultaneous involvement of the orbits. A biopsy was performed and a ganglioneuroblastoma was diagnosed. On systemic evaluation, an enlarged abdominal mass was detected. After neo-adjuvant chemotherapy, most of the tumors disappeared except for a tumor in the left parietal area; there was a corresponding decrease in the circumference of the head. We performed surgery for the remnant mass. Intensive chemotherapy was administered and a bone marrow transplantation was performed. Adequate neo-adjuvant chemotherapy followed by surgery to the neuroblatoma with extensive metastases to the skull and orbit may be helpful.
Biopsy ; Bone Marrow Transplantation ; Brain ; Child ; Fever ; Ganglioneuroblastoma ; Head ; Humans ; Hyperostosis ; Neoplasm Metastasis ; Neuroblastoma ; Orbit ; Preschool Child ; Skull

OBJECTIVETo study the clinicopathologic characteristics of peripheral neuroblastic tumors and to investigate the prognostic significance of International Neuroblastoma Pathology Classification (INPC).

METHODSOne hundred and thirty-five cases of peripheral neuroblastic tumors encountered in Shanghai Children's Medical Center were enrolled into the study. All the cases were classified according to INPC and International Neuroblastoma Staging System (INSS). The follow-up data were analyzed.

RESULTSThe consensus diagnoses of the 135 cases were as follows: 80 cases (59.2%) of neuroblastoma, 24 cases (17.8%) of ganglioneuroblastoma, intermixed, 17 cases (12.6%) of ganglioneuroma and 14 cases (10.4%) of ganglioneuroblastoma, nodular. The cases were subdivided into 2 subgroups: favorable histology (number = 90, 66.7%) and unfavorable histology (number = 45, 33.3%). According to INSS, the number of cases in stages I, II, III and IV was 22 (16.3%), 24 (17.8%), 34 (25.2%) and 55 (40.7%), respectively. The survival of peripheral neuroblastic tumors correlated with histologic diagnosis, INPC and INSS (P < 0.05).

CONCLUSIONDiagnostic categorization of peripheral neuroblastic tumors according to INPC is of prognostic value.

Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Ganglioneuroblastoma ; pathology ; surgery ; Ganglioneuroma ; pathology ; surgery ; Humans ; Infant ; Infant, Newborn ; Male ; Neoplasm Staging ; Neuroblastoma ; classification ; pathology ; surgery ; Peripheral Nervous System Neoplasms ; classification ; pathology ; surgery ; Retrospective Studies ; Survival Rate

Adrenal Gland Neoplasms ; pathology ; surgery ; Adrenalectomy ; Child ; Diagnosis, Differential ; Follow-Up Studies ; Ganglioneuroblastoma ; pathology ; Hematopoiesis, Extramedullary ; Hodgkin Disease ; pathology ; Humans ; Leukemia ; pathology ; Male