Lisa Howell

Phaeochromocytoma in children

Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are “familial”, a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel–Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel–Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma.

Detection of recurrence in childhood solid tumors

Frequent follow‐up and regular investigation are routine in pediatric oncology. However, there is little evidence regarding their value in the detection of recurrent disease.

Wilms' tumor--lessons and outcomes--a 25-year single center UK experience.

Wilms’ tumor (WT) is a common childhood renal cancer. A 25-year single center UK experience is reported. During 1985–2010, 97 children underwent immediate nephrectomy or delayed resection of tumor after chemotherapy. Survival, morbidity, and late effects following treatment are described. Tumor distribution was: Stage I, 25.7% (n = 25); Stage II, 24.7% (n = 24); Stage III, 26.8% (n = 26); Stage IV, 17.5% (n = 17); and Stage V, 5.2% (n = 5). Immediate nephrectomy was performed in 39% (n = 38) patients with elective delayed resection in 61% (n = 59) cases. Ten patients had cavotomy to excise tumor involving vena cava territory. Two cases required cardiopulmonary bypass. Tumor rupture was recorded in eight (8.5%) total operated cases—after immediate (n = 5/37), 13.5% vs delayed nephrectomy—(n = 3/57), 5.2%; X 2 P = .154. From 2001 onwards, one case of tumor rupture was recorded at this center after the universal adoption of UKW3 and SIOP guidelines advocating preoperative chemotherapy and delayed nephrectomy for all WT. Three treatment-related deaths occurred—hepatic veno-occlusive disease (n = 2) with actinomycin D and a single WT fatality due to vascular injury. Overall survival was 84.5% (82/97 cases). Two patients developed “late malignancies” —thyroid cancer and a basal cell carcinoma. This study demonstrates excellent survival for WT comparable with national outcomes and international cooperative studies. Adverse events with chemotherapy and surgery, including “late onset,” second malignancies deserve special consideration.

Cervical paraganglioma—A case report and review of all cases reported to the Manchester Children's Tumour Registry 1954–2004

We report a 6‐year‐old male with left‐sided ptosis, aniscoria and an initially missed slow growing left‐sided neck mass, which was surgically excised when he was 9 years old and confirmed to be a paraganglioma. Seven years later he developed recurrent symptoms and was found to have a recurrence in the anterior mediastinum. We also report on all cases of cervical paragangliomas registered with the Manchester Childrens Tumour Registry (MCTR) for the 50‐year period 1954–2004. Paragangliomas are very rare tumours in the head and neck but should be considered in the differential diagnosis of neck masses especially when presenting with Horner syndrome. Recurrent symptoms and signs of hypertension herald recurrence. As these tumours can form part of a familial syndrome, long‐term follow‐up is necessary. Family members should be screened for early detection. Pediatr Blood Cancer 2007;48:112–116.

Sertoli Leydig cell ovarian tumour and gastric polyps as presenting features of Peutz–Jeghers syndrome†

We report a case of Peutz–Jeghers syndrome (PJS) in a 2‐year old with precocious puberty secondary to a Sertoli–Leydig cell tumour. Family history of PJS and other neoplasms were discovered. The tumour was excised and the STK11 gene deletion identified in both patient and father. Screening revealed hamartomatous gastric polyps, which were removed. Current recommendations for screening of children with PJS begin at age 8 years, based on reported occurrence of complications 1 . This report illustrates the importance of considering early screening, along with close clinical review and patient/parent education, for detection of life threatening neoplasms and complications. Pediatr Blood Cancer 2010;55:206–207.

Treatment of relapsed Wilms tumour (WT) patients: Experience with topotecan. A report from the SIOP Renal Tumour Study Group (RTSG)

Topotecan has been variably incorporated in the treatment of patients with relapsed Wilms tumour (WT) who failed initial treatment with three or more effective drugs. Our objective was to describe outcome and to retrospectively investigate the potential role of topotecan in relapsed WT patients.

Excision of extensive metastatic dysgerminoma to control refractory hypercalcaemia in a child at high risk for tumour-lysis syndrome ☆

Hypercalcaemia is a rare life-threatening complication of paediatric cancer that is commoner in haematological than solid malignancies and associated rarely with acute renal failure. Often refractory to medical therapy, control of hypercalcaemia in children with solid tumours may necessitate excision of localised tumours or urgent chemotherapy for metastatic ones. We present a child with refractory hypercalcaemia, bulky chemosensitive metastatic tumours and acute renal failure in whom chemotherapy posed high-risk of tumour lysis syndrome (TLS). Resection of the metastatic tumours successfully normalised the hypercalcaemia and represents a practical alternative control strategy in cases at high risk of TLS.

Irinotecan for relapsed Wilms tumor in pediatric patients: SIOP experience and review of the literature—A report from the SIOP Renal Tumor Study Group

While irinotecan has been studied in various pediatric solid tumors, its potential role in Wilms tumor (WT) is less clear. We evaluated response and outcome of irinotecan‐containing regimens in relapsed WT and compared our results to the available literature. Among 14 evaluable patients, one complete response (CR) and two partial responses (PRs) were observed in patients with initial intermediate‐risk (CR and PR) and blastemal‐type histologies (PR). Two patients were alive at last follow‐up showing no evidence of disease. Our results and the reviewed literature suggest some effectiveness of irinotecan in the setting of relapsed WT.