Melanotic paraganglioma arising in the temporal horn following Langerhans cell histiocytosis

Intracerebral paragangliomas are rare because of the lack of paraganglial cells in the cerebral tissue. We report a rare case of melanotic paraganglioma arising from the temporal horn of the lateral ventricle in a patient with prior Langerhans cell histiocytosis (LCH) treated with chemotherapy and radiation.     

小儿腹膜后非嗜铬性副神经节瘤6例

目的 探讨腹膜后非嗜铬副神经节瘤（副节瘤）的诊断与治疗方法。方法 １９９２年２月～１９９８年８月收治６例腹膜后非嗜铬副神经节瘤,其中,男４例,妇女例。年龄５～１４岁,平均９．５岁。均采用手术切除治疗,３例取患侧１１肋间切口,２例１２肋缘下切口,１例经上腹切口。术中见肿瘤与腹主动脉、下腔静脉等粘连紧密,分离切除相当困难。１例下腔静脉撕裂行吻合术。病理诊断：良性副节瘤５例,恶生副节瘤１例。结果 所有病     

Treatment of disseminated paraganglioma with gemcitabine and docetaxel

A male with metastatic paraganglioma received different chemotherapy regimens and 14 arterial embolizations with no or short‐lasting clinical benefit. He was started on gemcitabine and docetaxel and, after two cycles, remission of all clinical signs occurred over 2 months. A complete biochemical response was achieved and angiographic signs of portal hypertension disappeared. He received 18 cycles of therapy and no limiting side effects were observed. More than 2 years after gemcitabine and docetaxel treatment, the patient remains symptom free. Gemcitabine and docetaxel could be a potential therapeutic strategy for this patient. Pediatr Blood Cancer 2009;53:663–665. © 2009 Wiley‐Liss, Inc.     

Acute myeloid leukemia therapy elicits durable complete response in chemoradio‐resistant metastatic paraganglioma

Few effective therapeutic options exist for patients with metastatic paraganglioma (PGL). We report the case of a 16‐year‐old male who developed acute myeloid leukemia (AML) 30 months following the treatment for metastatic PGL. PGL had been refractory to ¹³¹I‐meta‐iodobenzylguanidine and temozolomide therapy. However, there was a major reduction in primary tumor allowing its gross total resection, and complete resolution of metastatic disease following AML‐directed therapy that included daunorubicin, cytarabine, and etoposide. He remains in remission for both AML and PGL, 48 months post AML chemotherapy. Alternative chemotherapeutic agents should be considered for metastatic PGL resistant to conventional therapy.     

Malignant retroperitoneal paraganglioma: case report and review of the literature

Paraganglioma is a rare neuroendocrine neoplasm observed in patients of all ages but it has not been characterized in children. The authors describe a retroperitoneal paraganglioma diagnosed by chance in an 11-year-old boy. Many aspects of retroperitoneal paraganglioma are still under investigation. The treatment of choice is radical resection. Surgery may be possible following chemotherapeutic debulking with cyclophosphamide, vincristine, and dacarbazine. 131I-MIBG radiotherapy has proved increasingly useful in reducing the pain associated with disseminated disease and also in facilitating surgical resection in cases that appear inoperable. Conventional radiotherapy is purely palliative and used to reduce the pain of bone metastases.     

Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations

BACKGROUND: Paraganglioma (PGL) and phaeochromocytoma (PCC) are chemotherapy and radiation-resistant neuroendocrine tumors that arise from sympathetic tissue, and rarely occur in children. PCC may be associated with predisposing (germline) conditions like the multiple endocrine neoplasia type 2 (MEN2; OMIM 164761), von Hippel-Lindau syndrome (VHL; OMIM 193300), and rarely neurofibromatosis type 1 syndrome (NF1; OMIM 162200) and multiple endocrine neoplasia type 1 (MEN1; OMIM 131100). PGL, on the other hand, may be related to predisposing germline conditions like the familial PGL syndrome and the NF1 syndrome. In adult studies, one of the highest predisposing factors for germline mutation among patients presenting apparently sporadic PCC/PGL was their age at presentation. The aim of this study was to determine the rate of germline mutations among the rare patients presenting with sporadic PGL during childhood. PROCEDURE: In this study, we report the genetic analysis for predisposing conditions for the only three PGL cases retrospectively identified at our pediatric institution in the last 20 years. RESULTS: None had NF1 clinical associated lesions. Mutation screening of genes associated to VHL (VHL), MEN (RET), and familial PGL (SDH-B, -C, and -D) showed that all cases had germline deletions in the SDHB gene. We report a novel mutation, c.778 del C. Importantly, several non-symptomatic relatives were found to be carriers, thus ensuring them a clinical follow-up. CONCLUSION: According to our findings, PGL presenting during childhood represents an early manifestation of an adult disease caused by predisposing germline mutations. These results underline the importance of genetic studies in pediatric PGLs.     

Metastatic ewing sarcoma to the heart simulating adriamycin cardiotoxicity

A 20-year-old man with metastatic Ewing Sarcoma developed severe congestive heart failure. Because he had been treated with a large amount of Adriamycin, the diagnosis was initially thought to be Adriamycin cardiotoxicity. However, ante- and post-mortem studies revealed the presence of massive cardiac metastases. At post-mortem, there was no evidence of Adriamycin cardiotoxicity. This case emphasizes that cardiac metastases must be consideredin the differential diagnosis of heart failure in patients treated with Adriamycin.     

Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma

Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumors in children. Apparently sporadic cases of PGL may harbor germline mutations in the succinate dehydrogenase (SDHx) gene. SDHB mutations are associated with malignant disease. We report a 13‐year‐old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene. Family history was positive for non‐classical congenital adrenal hyperplasia and pituitary adenoma. After surgical resection of the primary PGL and chemotherapy, he was treated with metaiodobenzy lguanidine (MIBG) combined with arsenic trioxide. At 3‐year follow‐up, he had stable disease. Pediatr Blood Cancer 2010;54:473–475. © 2009 Wiley‐Liss, Inc.     

Metastatic malignant melanoma presenting as pancytopenia in a three-year-old boy

Malignant melanoma is rare in childhood and has never been reported to cause pancytopenia due to bone marrow metastases in a child. We report a 3-year-old boy with a large congenital melanocytic nevus who presented with bone pain and pancytopenia due to diffuse bone and bone marrow infiltration with metastatic melanoma without an identifiable primary site. Despite treatment with imatinib mesylate there was no response and the patient died with progressive disease. This case illustrates an unusual presentation of bone marrow failure secondary to malignant melanoma in a young child with symptomatic metastatic marrow infiltration, a rarely reported site of melanoma involvement in adults or children.     

Metastatic paraganglioma and paraneoplastic-induced anemia in an adolescent: treatment with hepatic arterial chemoembolization

Mediastinal paragangliomas are rare neoplasms in children. Anemia, as a paraneoplastic syndrome, has been described in adults with metastatic paraganglioma. The management of paraneoplastic anemia from metastatic paraganglioma has been problematic, with no reports in the literature describing successful treatment. This article describes a 17-year-old Jehovah's Witness with a mediastinal paraganglioma, hepatic metastases, and severe anemia. The patient and his family refused blood products and the anemia was refractory to erythropoietin and elemental iron therapy. Serial chemoembolization of the hepatic lesions resulted in resolution of the anemia, allowing subsequent debulking of the mediastinal paraganglioma.     

Mesoblastic Nephroma Metastatic to the Lungs and Heart - Another Face of this Peculiar Lesion: Case Report and Review of the Literature

A case of mesoblastic nephroma in a 14-month-old girl who developed consecutive metastases in the lung and the heart is presented. This tumor is considered to be benign and cured by surgery only. Recurrent cases are extremely rare and usually related to unclear surgical margins. Metastatic mesoblastic nephroma has been previously described in only two cases. The present case highlights a new, previously undescribed feature—the ability to metastasize to sites other than lung.     

Histologic and Hormonal Evaluation of the Ovarian Function in Leukemic Girls After Successful Treatment

Because few patients with extraocular retinoblastoma are seen in the United Skates and Europe, it has been difficult to establish the optimal role of chemotherapy in such cases. We examined the efficacy of two chemotherapy combinations (cisplatinletoposide and cyclophospha-mide/doxorubicin) in patients with extraretinal retinoblastoma, administered prior to radiotherapy in four patients with recurrent or advanced prinav disease. Responses were evaluable in three patients, each of whom was treated by both chemotherapy regimeas and radiotherapy. Multimodality therapy promises to be of benefit to patients with extraocular retinoblastoma, and future studies will explore alternative chemotherapy combinations for this purpose.     

Chemotherapy for Extraocular Retinoblastoma

Because few patients with extraocular retinoblastoma are seen in the United Skates and Europe, it has been difficult to establish the optimal role of chemotherapy in such cases. We examined the efficacy of two chemotherapy combinations (cisplatinletoposide and cyclophospha-mide/doxorubicin) in patients with extraretinal retinoblastoma, administered prior to radiotherapy in four patients with recurrent or advanced prinav disease. Responses were evaluable in three patients, each of whom was treated by both chemotherapy regimeas and radiotherapy. Multimodality therapy promises to be of benefit to patients with extraocular retinoblastoma, and future studies will explore alternative chemotherapy combinations for this purpose.     

Metastatic angiosarcoma arising in malignant peripheral nerve sheath tumor in a young patient with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of approximately one in 3,000 and a lifetime risk of malignancy estimated at 8–13%. Here, we report the case of a patient with NF1 who developed synchronous malignant peripheral nerve sheath tumors, one with a focus of angiosarcoma. He succumbed to metastatic angiosarcoma despite local resection and adjuvant chemotherapy. This case highlights the need for monitoring for malignancy in NF1 patients, the risks of sampling error during tumor biopsy, and the clinical decision ‐ making involved in choosing a therapeutic plan for a patient with multiple simultaneous malignancies.     

Outcome in 43 children presenting with metastatic Ewing sarcoma: The St. Jude Children's Research Hospital experience, 1962 to 1992

The purpose of this work was to review the St. Jude Children's Research Hospital experience of patients presenting with metastatic Ewing sarcoma over a 30-year period. Forty-three of 212 cases of Ewing sarcoma presented with metastases at diagnosis. These patients were analyzed to determine whether primary tumor site or size, metastatic site(s), or advances in therapy have had a positive impact on survival. The overall survival for our 43 patients was 35% (95% confidence intervals, 20% to 50%). Comparing patients treated prior to 1979 with those treated after 1979, the overall survival was significantly different (P = 0.0002). Comparing overall survival between pelvic and nonpelvic primaries (P = 0.24), among metastatic sites (P = 0.83), and between tumors measuring >8 cm in diameter to tumors measuring <8 cm in diameter (P = 0.12), no significant differences were observed. Approximately one-third of patients presenting with metastatic Ewing sarcoma may achieve long-term survival. Children with metastatic Ewing sarcoma may benefit from clinical trials which intensify the doses of doxorubicin, and the highly effective combination of ifosfamide/etoposide. © 1996 Wiley-Liss, Inc.