Thymoma and cellular immune deficiency in an adolescent

Thymoma has been associated with both humoral immunodeficiency and cellular immunodeficiency, but the latter association has never been described in the pediatric age group. We report a 15-year-old female with thymoma, recalcitrant oropharyngeal candidiasis, recurrent generalized cutaneous herpes simplex virus type 2 infection, recurrent pneumonia and myasthenia gravis. Pathology of the thymic lesion showed a 10times5x6 cm extensively hyalinized mass with residual regions of spindle cell predominant and lymphocyte-rich thymoma. There was no evidence of humoral immunodeficiency but there was clinical and laboratory evidence of cellular immunodeficiency with cutaneous anergy and absence of T cell proliferation to Candida antigen. Six weeks after the thymoma was resected, she was no longer anergic and Candida proliferation was normal, although she continued to experience infections. This is the first reported pediatric patient with an association of cellular immunodeficiency with thymoma.     

Malignant thymoma in a patient with growth hormone deficiency during growth hormone therapy

Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy.     

Spectrum Of Peritoneal Mesothelioma In Childhood: Clinical And Histopathologic Features,Including Dna Cytometry

Different types of peritoneal mesothelioma (PM) occur in children and adults. All these share certain histopathologic features but differ in other aspects, such as age of occurrence, site and sex predominance, etiology, and biologic behavior. The article describes four patients, two with cystic PM (one of whom had multiple recurrences) and two with malignant PM (one of whom had pleural metastases). These cases illustrate the variable behavior of this tumor in childhood and highlight the difficulties encountered in diagnosis and treatment, Three different groups of mesothelioma are recognized: a classic, asbestos-related, malignant mesothelioma of adults, typically occurring in the pleural cavity; a multuystic mesothelioma, predominantly afjecting the pelvic peritoneum of young women and associated with a good prognosis; and mesotheliomas in children, which are not associated with asbestos exposure and have an unpredictable biologic behavior requiring individual treatment strategies. In the patients studied, DNA index measured by flow cytometry showed a difference between the cystic (aneuploid) and malignant (diploid) tumors. The proliferative rate (S phase) of the tumor was low in all four cases.     

儿童颅骨膜血窦27例的诊断与治疗

目的 探讨儿童颅骨膜血窦的临床特点,影像学诊断、治疗与疗效.方法 回顾性分析本科2007年7月-2011年7月收治的27例颅骨膜血窦病例的临床资料.本组病例术前均行头颅CT三维成像或头颅CT血管造影三维成像,清楚显示病灶内异常血管团与颅内静脉窦相通,病灶下方存在不同程度的骨质缺损.治疗方法以手术为主,目的在于切除异常血管团,离断交通静脉,封堵缺损骨孔.结果 本组病例共手术治疗23例,切除病灶25处,手术均获成功,未出现术中大出血、颅内静脉栓摩等并发症.术后21例症状消失,2例好转.术后随访6个月～3 a,无复发,复查CT大部分骨孔愈合.结论颅骨膜血窦是一种少见的静脉异常,是沟通颅外静脉和颅内静脉的无肌层静脉血管团,多见于儿童.临床常表现为与体位改变有关的非搏动性可回复的头皮软组织肿块.诊断主要依靠CT或头颅CT血管造影三维成像.治疗以手术切除为主,亦可血管内栓塞.术后效果满意.     

Sacral Chordoma in Early Childhood: Clinicopathological and Immunohistochemical Study

Two cases of sacral chordoma in a 7-year, 9-month-old boy and a 3-year, 4-month-old boy are presented. In addition to the typical histology of conventional chordoma, both tumors showed the less differentiated sarcomatoid appearance of atypical chordoma in the major portion. Immunohistochemically, in both cases neoplastic cells in areas of conventional as well as atypical chordoma were positive for keratins (CAM 5.2, AE1 and AE3), epithelial membrane antigen, vimentin, S-100 protein, carcinoembryonic antigen, and glial fibrillary acidic protein. Both patients underwent resection of the tumor and chemotherapy. In comparison with conventional chordomas in adults, however, these two tumors showed more aggressive clinical course and were less amenable to therapeutic control. The older boy died of multiple metastasis 1 year after initial diagnosis. At the last follow-up, 15 months after initial diagnosis, the younger boy was alive, but with recurrent and metastatic disease of the left parasacral area and chest wall. Our studies of these two cases and the reported cases suggest that sacral chordoma in children has distinctive clinicopathologic features denoting a highly aggressive tumor and that it should be treated as such. Received January 9, 1997; accepted August 15, 1997.     

Cutaneous Malignant Melanoma and Bilateral Retinoblastomas: A Case Report and Review of the Literature

Retinoblastoma survivors following successful treatment have a predilection to develop other malignant neoplasms. This report describes a patient with bilateral retinoblastomas diagnosed and treated early in life, who developed cutaneous malignant melanoma 20 years later. In out review of the literature only 5 cases with this association have been reported. We would like to report the sixth case.     

Childhood Electroclinical Syndromes: A Diagnostic and Therapeutic Algorithm

Childhood Electroclinical Syndromes (CES) are epilepsies occurring in childhood with certain common features such as age of onset, types of seizures, electroencephalographic (EEG) characteristics, response to antiepileptic drugs (AEDs) and outcome. An understanding of CES is important for proper management and counseling. There are several CES, and there is an ongoing debate about lumping vs. splitting the CES. For the uninitiated, it is a difficult task to remember all the CES. In this paper, a simplified pragmatic diagnostic and therapeutic algorithm for some of the common CES is presented.     

Malignant pheochromocytoma in childhood: Report of a case with familial neurofibromatosis

A 14-year-old male with familial neurofibromatosis and widely disseminated malignant pheochromocytoma is described. Current criteria for the diagnosis and management of this rare malignancy are discussed.     

Childhood myelodysplastic syndromes: Clinical features,cytogenetics and prognosis

Sixteen children with myelodysplastic syndrome as defined by the French-American-British co-operative group are presented. The mean age was 10.5 (2.5 to 16) years, with a male predominence. All patients belonged to the more aggressive subtypes of myelodysplastic syndromes. Seven patients presented with refractory anaemia with excess blasts, six had refractory anemia with excess blasts in transformation, and three had chronic myelomonocytic leukemia. Cytogenetic analysis done in 7 of the 16 patients, revealed karyotype abnormalities involving chromosomes 7, 8 and 17. One patient with Down's syndrome had karyotype of 47, XY, +21 (major clone) and 46, XY (minor clone). Five of these patients evolved to acute leukemia. The mean duration of survival was 5.5 months. Aggressive chemotherapy as a primary line of treatment induced remission in five out of six patients. Predominence of aggressive types of myelodysplastic syndromes in children and their good but short-lived response to aggressive chemotherapy suggests the need for early bone marrow transplantation following chemotherapy.     

Therapeutic Approach To Primary Malignant Epithelial Tumors of the Liver in Childhood: Results of the Italian Retrospective Study and Literature Survey

We analyzed the clinical features and treatment of 23 hepatoblastomas (HPBs) and 16 hepatocellular carcinomas (HPCs) occurring in patients less than 19 years old, admitted to the Italian retrospective multicentric study, conducted between 1983 and 1985, on childhood malignant hepatic tumors. The median ages of the patients with HPB and HPC at diagnosis were 22.34 months and 96.23 months, respectively, with a male/female ratio of 0.7 and 1.7, respectively. Fourteen HPBs (61 %) and 5 HPCs (31%) achieved surgical complete remission (CR). Of these, 11 HPB and all 5 HPC are still in CR with a median follow-up of 36 months and 3.5 years, respectively. One HPB and 1 HPC became resectable after a primary course of cis-platinum alone in the case of HPB and used with VP-16 in the case of HPC. All of the 9 HPBs and 11 HPCs, who never achieved CR, died of disease at a median interval from diagnosis of 5 and 2 months, respectively. The published therapeutic approaches for these tumors were also reviewed.     

Malignant lymphoma with primary cardiac manifestations: A case report

This case report describes a 29-year-old black patient presenting with right heart failure secondary to massive lymphomatous cardiac involvement. Additional sites of involvement included mesenteric lymph nodes and the small bowel. Malignant lymphoma with primary cardiac manifestations is very rare and follows an aggressive course. The importance of early diagnosis and commencement of immediate therapy is emphasized. © 1994 Wiley-Liss, Inc.     

Hyperferritinemia in Malignant Histiocytosis, Virus-Associated Hemophagocytic Syndrome and Familial Erythrophagocytic Lymphohistiocytosis

ABSTRACT. Data on 28 patients with malignant histiocytosis (MH), fourteen patients with virus-associated hemophagocytic syndrome (VAHS) and two patients with familial erythrophagocytic lymphohistiocytosis (FEL) were collected from 21 hospitals in Japan to study the serum ferritin levels and clinical features. At diagnosis, the serum ferritin values were a median of 3000 ng/ml (range, 59–270000 ng/ml) in MH and 10500 ng/ml (range, 44–68600 ng/ml) in VAHS/FEL. Clinical signs and symptoms were not substantially different between MH and VAHS/FEL. Thus, serum ferritin markedly increased in the majority of MH/VAHS/FEL patients and should be a useful marker of disease activity in either neoplastic or reactive histiocytic proliferative disorders.     

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.     

Malignant fibrous histiocytoma in the abdominal soft tissues of a child: A case report

An 18-month-old female presented with an abdominal tumor mass which on morphological, immunohistological and ultra-structural examination was found to be a malignant fibrous histiocytoma. This soft tissue sarcoma is rarely encountered in childhood. Treatment in this case consisted of surgical tumor debulking with pre- and post-operative chemotherapy. The child is well and free of detectable tumor at 23 months after diagnosis.     

Editorial: Parotid Carcinomas Following the Treatment of Childhood Acute Lymphoblastic Leukemia

Granulocyte colony-stimulating factor (G-CSF) has been used to reduce the duration and/or degree of neutropenia of different etiologies in recent years. In this study, experience with the use of G-CSF (Neupogen, Roche) after 123 courses of highly myelosuppressive chemotherapy administered to 31 (20 female, 11 male) patients with pediatric solid tumors is reported. G-CSF was initialed at a white blood cell (WBC) count of 918 ± 452/μL (100–2000), at a dose of 7.6 ± 2.3 μg/kgl/d (5–14) subcutaneously for 5.2 ± 2.4 days (2–18). G-CSF was given for afebrile neutropenia after 82 and for febrile neutropenia after 41 courses. Only in two episodes where G-CSF was given for afebrile neutropenia, fever developed. The average hospitalization period for febrile neutropenia was 9.8 ± 3.3 days (5–20). Chemotherapy could be given on scheduled time and dosage in 90% of the courses in which G-CSF was used for afebrile neutropenia. G-CSF was well tolerated. Bone pain was observed in two patients and urticaria in one patient. In conclusion, G-CSF increased the WBC count effectively, there were only two febrile episodes in 82 courses in children receiving G-CSF for afebrile neutropenia, it was well tolerated, and it was found to be feasible for use in a developing country.     

Primary Malignant Fibrous Histiocytoma of the Lung in a Child: A Case Report and Review of Literature

Malignant fibrous histiocytoma (MFH), an aggressive high-grade soft tissue sarcoma, usually occurs in the elderly during the fifth to seventh decade of life. It commonly arises in the retroperitoneum, extremities, and head and neck region. Primary pulmonary MFH is extremely rare and is frequently fatal. We present the youngest known case, a 9-year-old boy with a primary left lung grade II inflammatory MFH, stage II. He underwent a left upper lobectomy for tumor resection. After completing radiation therapy, he was started on vincristine, actino-mycin D, and cyclophosphamide alternating with vincristine, doxorubicin, and cyclophosphamide every 3 weeks. After five such cycles, he had a histologically proven local recurrence. He then received chemotherapy consisting of ifosfamide (2 g/m²) and etoposide (VP-16) (100 mg/m²) given daily for 3 days every 3 weeks. The patient attained complete remission (CR) after five such cycles and completed treatment without any major complications. He received a total of 16 courses and is continuing in CR 36 months off treatment. Ifosfamide and etoposide (VP-16), known for their usefulness in treatment of adult soft tissue sarcomas, can be used as salvage chemotherapy for patients with MFH who fail the front-line conventional chemotherapy.     

Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation

We report a 3-year-old boy with a malignant triton tumor (MTT) involving the left masticator space with local invasion and regional lymph node metastasis. Family history and detection of a novel germline TP53 mutation confirmed his diagnosis of Li Fraumeni syndrome (LFS). MTT has not been previously described in association with LFS. This case along with a comprehensive review of the literature, illustrate the importance of both somatic and germline TP53 mutations in the pathogenesis MTT. The tumor could not be resected and he was successfully treated with intensive induction chemotherapy, irradiation, and high-dose chemotherapy with autologous stem cell transplantation.