BackgroundThe National Institute for Health and Care Excellence (NICE) guidance for referral of children with suspected cancer was first published in 2005 and updated in 2015. The updated version relied on sparse primary care evidence and published without input from key stakeholders, for example, acute general paediatricians and paediatric haematologists/oncologists. This led to a document that fell short as a practical guide for referring physicians managing children with potentially life-threatening conditions. Following discussions between the Children’s Cancer and Leukaemia Group (CCLG, the UK multidisciplinary professional body for healthcare professionals caring for children with cancer) and NICE, it was agreed that a practical supplement should be produced for the 2015 guidance. A prerequisite was evidence gathering from tertiary care to balance the existing primary care evidence, and a Delphi consensus method was therefore convened.MethodsA CCLG NICE Guidance Committee formulated 25 draft statements for review. The CCLG emailed its paediatric haematologist/oncologist membership (n=179) and 88 responded (49%). To achieve consensus, statements required ≥70% agreement from ≥60% of actual respondents, from the denominator (n=88).ResultsFifteen of 25 original statements were accepted at the first round of voting. Three of 25 statements where >50% did not support were rejected outright. One statement could not be revised without replicating a previously accepted statement. The six remaining statements were revised and a second round of voting undertaken; all six revised statements were accepted. Overall, 21 of 25 statements (84%) met consensus criteria.ConclusionsThis expert opinion should help streamline suspected cancer referral in children and help optimise subsequent outcomes.

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Alveolar soft part sarcoma (ASPS) is an exceptionally rare non-rhabdomyosarcomatous soft tissue sarcoma (NRSTS), characterized by the translocation t(X;17) p(11.2;q25). This translocation results in the chimeric ASPSCR1-TFE3 transcription factor which drives tumorigenesis. Complete surgical resection is crucial in allowing a successful outcome in these cases. Here, we describe an 11-month-old female infant who presented with a well-circumscribed lesion of the tongue, with the clinical and radiologic appearances of an infantile hemangioma. This led to an initial plan for surveillance management. However, the mass continued to enlarge and the lesion was therefore biopsied when the infant was 17 months old. Histology showed plump epithelioid tumor cells, in many places lining pseudoalveolar spaces. Occasional Pas-D inclusions were present in the cytoplasm. Immunostaining showed nuclear positivity for TFE-3. Real-time quantitative polymerase chain reaction testing confirmed the presence of ASPSCR1-TFE3 fusion transcripts, characteristic of the translocation t(X;17) p(11.2;q25) observed in ASPS. This represents the youngest reported ASPS case with a confirmed molecular diagnosis. Complete surgical resection was undertaken and a surveillance imaging schedule implemented. This case highlights the need for regular review of the initial diagnosis and the importance of multidisciplinary discussion and early biopsy where the clinical course does not follow that expected for the putative (nonhistologically confirmed) diagnosis.

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Aims To describe Singleton-Merten Syndrome as an unusual cause of arthritis associated with a psoriasiform rash. Methods Case report. Results We present this case of a girl who at 11 months suffered from discrete red scaly areas on the trunk, limbs and scalp. She was given a diagnosis of psoriasis which remained poorly controlled throughout childhood, despite phototherapy and methotrexate treatment. In infancy, slow gross motor development was noted and felt to be related to hypermobility. She also began complaining of morning stiffness and pain in her hands and knees. The ESR was slightly raised at 17 but all other investigations were negative including ANA, rheumatoid factor and HLA-B27. X-rays showed osteopenic bones but no joint erosion. A diagnosis of psoriatic arthritis was made and although wheelchair bound, she never had significant joint inflammation. Dental concerns also emerged with delayed eruption and very malformed teeth with short roots. She was of proportional short stature with height at the 3rd centile at 10 years. At 11 years a systolic murmur was first heard although she had no cardiac symptoms. An echocardiograph revealed a moderately stenosed valve which rapidly progressed with syncopal episodes 18 months later. At this point the ejection fraction was 21% and a computed tomography scan revealed calcification of the aortic arch to the transverse arch. She had an aortic root replacement with pulmonary autograft. Around this time, she had repeat X-rays which were felt to not be typical of psoriatic arthritis. Instead they showed acro-osteolysis with periarticular osteopaenia, and medullary widening. Subsequently given her other clinical features, Singleton-Merten Syndrome was diagnosed. Conclusions Singleton-Merten Syndrome is a rare autosomal dominant multisystem condition with less than 10 cases reported in the literature. It is thought to be due to abnormal calcium deposition although its genetic basis is not known. Manifestations include aortic valve calcification, osteoporosis with widened medullary cavities, muscle weakness, short stature, psoriasiform eruptions, glaucoma and dentin dysplasia. Rheumatologists commonly treat arthropathies and therefore although this is a rare cause we hope to highlight awareness of this syndrome.