Melanotic neuroectodermal tumor of infancy: clinical, radiological, and pathological features

We present a case of a 4-month-old female infant with a maxillary melanotic neuroectodermal tumor of infancy (MNTI) and review the pooled data from previous publications on this entity. The literature to date comprises 378 reported cases from 1918 to the present, from which data on the presence or absence of metastatic disease was available in 311, and on the presence or absence of local recurrence in 165. These pooled data suggest a local recurrence rate of 36% with metastasis occurring in 7% of cases. At present, the optimal management includes complete surgical excision with clear margins, but there are no reliable histopathological or molecular features to predict the biological behavior in individual cases.     

Malignant Melanotic Neuroectodermal Tumor of Infancy: A Case Report

We present a case of melanotic neuroectodermal tumor in the maxilla that followed an aggressively malignant course. In the first biopsy the tumor showed a classical histological picture, while in the last biopsy only malignant undifferentiated cells were evident. The tumor recurred twice after excision, and in spite of radiotherapy and various chemotherapeutic measures the patient died within 16 months of onset. Similar cases reported in the literature are discussed.     

Melanotic Neuroectodermal Tumor of Infancy: A Molecular Genetic Study

Melanotic neuroectodermal tumor of infancy is a rare but well-recognized entity in pediatric pathology. However, the relationship of this tumor to other pediatric small cell tumors with neuroectodermal features (such as neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, and desmoplastic small round cell tumor) is undetermined. Molecular genetic studies of melanotic neuroectodermal tumor of infancy have not been reported. We studied three typical cases of melanotic neuroectodermal tumor of infancy in an attempt to link this tumor to other small cell tumors with well-characterized molecular genetic changes. Tests performed included: detection of MYCN gene amplification and deletion of 1p (all 3 cases), and presence of the t(11;22)(q24;q12) and the t(11;22)(p13;q12) translocations (2 of 3 cases). None of these tests yielded positive results. Thus, there is no genetic basis at present to link melanotic neuroectodermal tumor of infancy to neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, or desmoplastic small round cell tumor. Received June 30, 1997; accepted September 19, 1997.     

Melanotic neuroectodermal tumor of infancy of the femur

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm that often occurs during the first year of life. More than 90% of MNTIs occur in the head and neck region, with most on the anterior part of the maxillary ridge. MNTI has also been reported in the mediastinum, thigh, foot, shoulder, and gonads. Here the authors report a rare case of MNTI of the femur in a 3-month-old child.     

Recurrent melanotic neuroectodermal tumor in the orbit successfully treated with resection followed by pediculated periosteal flaps

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare tumor arising mainly in the orofacial bones. Among more than 200 cases described in articles, only seven cases involved orbital regions. We present a case of newborn with recurrent MNTI in the lateral wall of right orbit. The patient underwent complete surgical resections at onset and relapse. The bone defects following the second surgery were successfully reconstituted with pediculated periosteal flaps from parietofrontal bones. In this article, we describe clinical course of recurrent MNTI in the orbit and discuss management of the tumor involving the orbit.     

Effectiveness of chemotherapy in melanotic neurectodermal tumor of infancy

MNTI is an uncommon tumor mainly of infants. Surgery is the primary modality of treatment. Chemotherapy has been tried for recurrent/residual tumors. The chemotherapeutic response of 3 infants treated at a center is discussed here. All 3 infants showed good response to chemotherapy. In 2 of them complete residual tumor resection became possible; 2 of them are alive and tumor regression continues.One child had local recurrence later and was lost for follow-up.     

Melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumor of infancy is a specific but unusual tumor of infancy for which only sporadic cases have been reported in the literature. This paper presents a case in an infrequent site, the epididymis, and summarizes the literature on the subject.     

Primary orbital neuroblastoma in a 1‐month‐old boy

Neuroblastoma is a malignant tumor predominantly occurring in children and usually arising from the adrenal gland or sympathetic ganglia. We describe a neuroblastoma in a 1‐month‐old boy arising from his left orbital cavity. This tumor was refractory to chemotherapy or radiotherapy, requiring enucleation of the left eye for complete removal of the intraorbital tumor. Thereafter, he received high‐dose chemotherapy followed by autologous peripheral blood stem cell transplantation, and has been in complete remission for 3 years. Unlike neuroblastomas arising from the adrenal gland or sympathetic ganglia, primary orbital neuroblastoma may be refractory even in early infancy.     

Congenital mesoblastic nephroma 50 years after its recognition: A narrative review

Congenital mesoblastic nephroma (CMN) is a rare pediatric renal tumor with low malignant potential that most commonly occurs early in infancy. Treatment strategies are based on the few published CMN series, while a significant number of CMN patients have been described in case reports. The aim of this narrative review was to create an up‐to‐date overview of the literature. Complete surgical removal is curative in most cases. The risk of treatment‐related mortality (both surgery‐ and chemotherapy‐related) is relatively high in the first weeks of life, indicating that these young patients deserve special attention with respect to timing and type of treatment.     

Ossifying renal tumor of infancy

A renal ossifying tumor of infancy is a rare event with few cases having been published, and the etiology has not yet been established. We report on two new cases of this unusual neoplasm. A 2-year-old boy presented with intermittent painless gross hematuria. After several diagnostic procedures, an open pyelolithotomy was performed and the histological diagnosis of renal tumor of infancy was finally made. The history of the second case is very similar. An 8-week-old infant presented with gross hematuria. As in the first case, an open pyelolithotomy was performed and a tumor entirely covered with blood clots was found in the renal pelvis and completely removed. A histological diagnosis of renal ossifying tumor of infancy was made. Using the literature available, the histological criteria and biological behavior are discussed, together with the diagnostic and therapeutic algorithm for this tumor. In infants with gross hematuria and a calcified (non-)invasive mass in the pelvi-calceal system, renal ossifying tumor should be considered in the differential diagnosis. MRI or CT scan offers a good diagnostic guide.     

Rhabdoid tumor of the kidney presenting with hemiplegia: report of a case

Rhabdoid tumor of the kidney (RTK) is a rare and highly malignant neoplasm of infancy, with a strong tendency for early metastasis to distant regions. RTK is unique in its significant association with primary or metastatic brain tumors. The authors report the first case of RTK presenting initially with hemiplegia. The patient was found thereafter to have RTK concurrent with pulmonary metastases, a brain tumor, and a cerebral ischemic lesion. Intensive chemotherapy consisting of carboplatin and etoposide alternating with cyclophosphamide was unsuccessful and the patient died 5 months later because of severe respiratory distress resulting from widespread pulmonary metastases.     

Slow-growing lambdoid melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumors of infancy are rare neoplasms that occasionally may involve the skull. Usually such lesions present as an anterior fontanelle mass that grows rapidly. Very rarely, skull lesions are located at different sites and have an indolent course, thus making the diagnosis more difficult. To illustrate this latter presentation, we present a case of a slowly growing melanotic neuroectodermal tumor of infancy located on the right lambdoid suture.     

Unusual clinical presentation of primary hypothyroidism in a very young infant caused by autoimmune thyroiditis: case report and update of the literature

Acquired primary hypothyroidism in infancy can be related to autoimmune thyroiditis and can present with unusual symptoms, such as muscle pseudohypertrophy and pituitary tumor. This condition can cause permanent deficits in psychomotor development and growth despite adequate replacement with L: -thyroxine.     

Neonatal Choriocarcinoma of Liver

Neonatal choriocarcinoma associated with a seemingly normal gestation is rare. A total of 20 cases of either primary or metastatic choriocarcinoma in infancy have been reported until 1992. We report an additional case of a huge choriocarcinoma of the liver in a 2-month-old boy, who died of tumor hemorrhage. This baby was born to a 19-year-old unmarried mother. The placenta was thought to be normal and was not examined histologically. The liver mass was first noted 2 weeks after birth, and he was admitted because of poor feeding and pallor. Before any therapy was instituted, he died of massive tumor bleeding. Autopsy revealed a huge hemorrhagic tumor mass with massive necrosis in the left lobe of the liver. Several nodular metastases were found only in the lung. The remainder was unremarkable except for bilateral cleft lip and palate. It is presumed that the choriocarcinoma in the liver could be either a primary tumor in the absence of any primary focus in the mother or the infant or a metastatic lesion from an occult choriocarcinoma of the placenta.     

Melanotic neuroectodermal tumor of infancy in the femur: a case report and review of the literature

Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon neoplasm that most often affects the maxilla in the first year of life. MNTI occurring in the long bones is extremely rare, with only 2 cases reported in the medical literature. Here we report a case of MNTI in the right femur of a 5-month-old infant who underwent neoadjuvant chemotherapy followed by limb-salvage surgery.     

Bilateral testicular tumors in an infant

A 7-month-old infant showed bilateral enlarged, nontender scrotal masses. The level of α-fetoprotein was greater than 10,000 ng/ml preoperatively; a high left inguinal orchiectomy was performed for a suspected yolk-sac tumor. The right testis was diagnosed as a mature teratoma because it was not possible to establish a line of cleavage between the tumor and the normal tissue, and a high right inguinal orchiectomy was performed. Only one case of bilateral testicular teratomas has been reported in the literature to date. We report a rare second case of bilateral testicular tumors, one a yolk-sac tumor and the other a teratoma. Accepted: 24 September 1996     

ONCOPROTEINS AND TUMOR SUPPRESSOR PROTEINS IN CONGENITAL SACROCOCCYGEAL TERATOMAS

Congenital sacrococcygeal teratoma SCT is the most common germ cell tumor of infancy and childhood with a female preponderance. Most SCTs are diagnosed at birth, are benign, and consist of fully differentiated, mature tissues. Tumorigenesis of SCTs remains poorly understood. Almost nothing is known about possible oncogene activation or tumor suppressor inactivation in these rare tumors. We describe the presence of various oncoproteins and tumor suppressor proteins in eight cases of congenital SCT. The following oncogenes were examined: ras family c-H-, c-N-, and c-K-ras , early genes fos, jun , and tumor suppressor genes p53 and nm23-H-1 . There was no relationship between the intensity of expression of these oncoproteins and tumor suppressor genes and the following parameters: tumor size, age, and survival of the patients. We did not observe any difference, however, between the expression of the examined oncogenes and tumor suppressor genes nm23 and p53 in immature and mature teratomas. Our findings suggest that the ras family of oncogenes, fos and jun oncogenes, and nm23 and p53 tumor suppressor genes are present in congenital SCT, indicating a possible role in genesis and development of these tumors.     

Borderline phylloides tumor in an 11-year-old girl

Phylloides tumor is an uncommon breast tumor in children. Only a few cases have been reported in the literature. A case of borderline phylloides tumor in an 11-year-old girl is described. Accepted: 6 January 1998     

Inflammatory myofibroblastic tumor of the bladder in children: what can be expected?

Inflammatory myofibroblastic tumor of the bladder is an uncommon condition of unknown neoplastic potential. In adults the tumor is seen in association with instrumentation of the lower genitourinary tract, while in children it appears to run an idiopathic course. Its clinical and radiological presentation in children resembles sarcoma. The case of a 10-year-old girl with inflammatory myofibroblastic tumor is presented, outlining the histological and immunhistochemical features to allow differentiation between sarcomas, the most important differential diagnosis. An outcome meta-analysis of the literature identified 35 cases of inflammatory myofibroblastic tumor in the bladder of children. Conservative surgery is the strategy of choice. There is no evidence of recurrence or metastasis at a median follow up of 1.5 years.     

Perinatal neuroblastoma of the pancreas

Neuroblastoma is the most common solid tumor in infancy. Arising from the neural crest these tumors are usually located along the sympathetic chain from the neck to the pelvis and in the adrenal medulla. We report the case of a 3-week-old boy presenting with recurrent episodes of colicky pain. After ultrasound examination, magnetic resonance imaging and laboratory data a pancreatic neuroblastoma was suspected. Tumor resection via distal pancreatectomy and histologic investigation confirmed the diagnosis. Surgery is the treatment of choice in children with pancreatic masses, and is usually well tolerated even in the neonatal period. Conclusive diagnosis can be frequently established only by tumor resection or biopsy. Pancreatic neuroblastoma is an extremely rare tumor with only a few cases described in literature.