Improving the quality of care in the molecular era for children and adolescents with medulloblastoma.

PURPOSE: Elevated mortality and morbidity rates persist in pediatric patients with medulloblastoma. We present a clinical audit of a real-world cohort of patients in search for pragmatic measures to improve their management and outcome. METHODS/PATIENTS: All pediatric patients with medulloblastoma treated between 2003 and 2016 at a Spanish reference center were reviewed. In the absence of internationally accepted quality indicators (QIs) for pediatric CNS tumors, diagnostic, therapeutic, survival, and time QIs were defined and assessed. RESULTS: Fifty-eight patients were included, 24% were younger children (< 3 years), 36% high risk (anaplastic, metastasis, or surgical residue > 1.5 cm2), and 40% standard risk. Five-year OS was 59.2% (95% CI 47-75); 5-year PFS 36.4% (95% CI 25-53). Five main areas of quality assurance were identified: diagnosis, global strategy, frontline treatment modalities, outcomes, and long-term and end-of-life care. A set of 34 QIs was developed and applied. Lack of central pathology review, delay in the incorporation of novel molecular markers, and absence of a neurocognitive and quality-of-life evaluation program were some of the audit findings. CONCLUSIONS: This real-world research study resulted in the development of a pragmatic set of QIs, aimed to improve clinical audits and quality of care given to children and adolescents with medulloblastoma. We hope that our findings will serve as a reference to further develop a quality assurance system with specific QIs for pediatric CNS tumors in the future and that this will ultimately improve the survival and quality of life of these patients.

[Tumours in the pineal region in the paediatric age. Reports of 23 cases and a review of the literature]. / Tumores de la region pineal en la edad pediatrica. Presentacion de 23 casos y revision de la bibliografia.

INTRODUCTION: Tumours in the pineal region are located at a meeting point of several neurovascular structures that are difficult to reach surgically and for which the possibility of resection is limited; as a result the management of these lesions usually requires associated adjunctive treatment with radiotherapy and/or chemotherapy. PATIENTS AND METHODS: This study is a retrospective analysis of the epidemiological, clinical, neuroimaging and pathological characteristics of 23 patients with tumours in the pineal region who were treated between the years 1997 and 2010 in the Hospital Infantil Niño Jesús. The factors involved in the prognosis of this cohort following surgical or adjunctive treatment are also discussed. RESULTS: Subjects included in the study were 6 girls and 17 boys with ages ranging from 4 months to 18 years. It was found that the initial symptoms in 95% of the patients were signs of acute or subacute hydrocephalus, which required the placement of a ventriculoperitoneal shunt (82%). A histological sample of the tumour tissue was collected in all cases. Biopsy samples were taken in the case of five patients and 18 underwent surgery involving a craniotomy. Germinoma (eight cases) and mature teratoma (one case) were the tumours with the longest survival times; non-germinomatous tumours (three cases), those of the pineal parenchyma (four cases) and gliomas (five cases) presented the highest rates of recurrence and a poorer prognosis. CONCLUSIONS: The study of tumour markers can be used to guide the diagnosis of certain tumours of the pineal region. At present, the recommended procedure involves taking a histological sample of the tumour in order to establish an accurate diagnosis and a specific oncological treatment.

[Brain-stem tumors in children]. / Tumores de tronco cerebral en la población pediátrica.

We report a large series of brain-stem tumors seen during 18 years of at our hospital. We diagnosed and treated a total of 42 patients between 1988 and 2006; 36 of them were operated with partial resection in most cases. Brain-stem tumors constitute a rare condition with very bad prognosis. A surgical complete resection of the mass is not possible in most cases, so the principal surgical objective is reduction and decompression. The best prognosis is seen in patients with low grade tumors with minimal neurologic deficit. Most of these tumors cause death in a short period, usually one year or less.

Pediatric giant cell glioblastoma: a case report and review of the literature.

INTRODUCTION: Giant cell glioblastoma is a subtype of glioblastoma multiforme (GM) whose most characteristic histology is the presence of plentiful multinucleated giant cells. These tumours are very rare and account for only 5% of GM. They do not have specific localization, although normally they are supratentorial and affect mostly the temporal lobe. They may occur at any age, but mostly they occur in younger people than GM. They are infrequent in childhood, but they have longer survival in paediatric age. CASE REPORT: We present an 11-year-old girl that was operated but whose tumour recurred in a month after apparent total removal. DISCUSSION: We review in the literature the clinical, histological, immuno-histochemical and genetic characteristics, as well the prognosis of this tumour.

Diaphyseal chondroblastoma in a long bone: first report.

Chondroblastoma is a rare benign bone tumor typically located in the epiphysis. We describe the first case of chondroblastoma arising in the diaphysis of a long bone. The patient was a 13-year-old girl who presented with pain over her right thigh. Radiographs showed a lytic lesion in the diaphysis of her right femur. A core biopsy and a subsequent surgical resection were performed.

Congenital melanotic macules and Sebaceous Choristoma arising on the tongue of a newborn: epidermal choristoma?

Oral hyperpigmentation is a common event in older individuals, however, is exceptional in neonates (congenital melanotic macules). Conversely, 70-80% of people have sebaceous glands in the oral mucosa, with the tongue representing an ectopic location and termed sebaceous choristoma by some authors. We report a case that fulfills both conditions in a tongue lesion. A 1-month-old boy presented with a pigmented macula on his tongue noted at birth. An excisional biopsy was performed showing a lesion lined by an epidermal-like epithelium with basal pigmentation, under which, sebaceous glands, abortive hair follicles and ductal structures mimicking apocrine glands were found. Seven cases of congenital melanotic macules of the tongue have been reported, however, none of them showed sebaceous glands under the lesion. Furthermore, there has not been a reported case of sebaceous choristoma of the tongue present at birth. We present a case that shares clinical and histological features of both conditions and propose the name 'epidermal choristoma'.

[Intramuscular juvenile xantogranuloma]. / Xantogranuloma juvenil intramuscular.

Deep or intramuscular juvenile xanthogranuloma (JXG) is very rare. There are, however, some clinical and histological similarities between the case we present and the few cases that have been published in the literature. Although most of them will need histologic confirmation to establish the final diagnosis, surgeons who are operating tumors of infancy should consider it in the differential diagnosis of well circumscribed, rapidly growing dorsal masses in children under 3 years of age. Macroscopic appearance upon excision can help to support the diagnosis. Knowledge of this variant of JXG may avoid aggressive diagnostic or therapeutic procedures.

Linear childhood cutaneous lupus erythematosus following Blaschko lines.

We report a case of a 3-year-old Spanish boy with linear cutaneous lupus erythematosus following the lines of Blaschko on his face and neck. Histological examination established the diagnosis. Only eight cases of discoid lupus erythematosus following the lines of Blaschko have been reported previously.

[Localized Castleman's disease associated with high-grade lymphoma]. / Enfermedad de Castleman localizada asociada a linfoma de alto grado.

Castleman's disease is a rare entity which is characterized by its histologic features: hyperplasia of lymph nodes and capillary proliferation. Two distinct histological patterns has been described: hyaline vascular type and plasma-cell type. Two different clinical course has been identified. While localized type is usually a benign disease in which surgical resection is curative, multicentric type has a poor prognosis regarded to the appearance of severe infection or neoplasm (Kaposi's sarcoma or malignant lymphoma. We present a rare association of localized Castleman's disease that presents synchronously with a diffuse large-cell lymphoma.

[The validation of checklists for the inhalation technic for the pressurized cartridge and the Turbuhaler]. / Validación de listas de comprobación de la técnica de inhalación para cartucho presurizado y Turbuhaler.

OBJECTIVE: To determine the intra- and interobserver validity and reliability of two checklists for inhalation technique with a pressurized inhaler (PI) and the Turbuhaler. MATERIAL AND METHODS: Transversal descriptive study performed at an urban health clinic in Gijón (Spain). Thirty-four patients, over 14 years of age but younger than 65, who used a PI and 35 who used a Turbuhaler were chosen randomly from among patients in our health clinic practice. The results obtained with each list by two observers were compared with those obtained by electronic monitors (test pattern). Each patient performed 3 inhalation maneuvers. RESULTS: Comparison with the test pattern showed that, between 35.2% and 47% of patients used the PI technique correctly, whereas 74.2% inhaled correctly using the Turbuhaler. The sensitivity of the PI checklist ranged from 62.5 to 91.6 and specificity ranged from 88.8 to 94.4. The sensitivity of the Turbuhaler checklist ranged from 50 to 76.9 specificity ranged from 66.6 to 88.8. Intra-observer agreement (Kappa index) was 0.62 to 0.74 for the PI checklist and between 0.77 and 0.81 for the Turbuhaler list. Interobserver agreement (Kappa index) was 0.68 to 0.81 for the PI list and 0.53 to 0.60 for the Turbuhaler list. CONCLUSIONS: The two checklists are valid instruments and offer good intra- and interobserver reliability, permitting easy identification of patients who perform the inhalation technique incorrectly.

Granular cell basal cell carcinoma. Light microscopy, immunohistochemical and ultrastructural study.

Granular cell basal cell carcinoma (BCC) is a rare histological variant of BCC. In this, the fifth reported case, a 67-year-old male with BCC located on the nose, light microscopy examination showed a tumour with the classical configuration of nodular BCC, in which most cells had finely granular eosinophilic cytoplasm. Ultrastructural observation showed numerous lysosome-like granules filling the cytoplasm of tumour cells, along with numerous well-formed pentalaminate desmosomes. Immunohistochemical profile (including positivity for keratins C 5.2 and AE 1 and for Leu-M1), together with the presence of cytoplasmic tonofilament bundles and desmosomes, are consistent with the proposed epithelial origin of granular cells in this tumour.

[Cystic lymphangioma of the colon: endoscopic treatment and diagnosis]. / Linfangioma quístico de colon: diagnóstico y tratamiento endoscópico.

We present a case of cavernomatous cystic lymphangioma in the hepatic angle of the colon, a extremely rare benign tumor developed in a patient under continued radiologic and endoscopic surveillance because of multiple polyps and colon carcinoma. The lesion was asymptomatic and was diagnosed in a routine follow-up colonoscopy. The endoscopic appearance was similar to that of an adenomatous polyp and was safely resected by polypectomy without evidence of relapse to the present time. Trends in the treatment of lymphangioma have been changing since the development of snare polypectomy; thus before 1980 it was treated mainly by surgery, while at present lymphangiomas less than 2 cm have been removed more frequently by polypectomy.

[Signet-ring cell colorectal carcinoma. Study of 2 cases]. / Carcinoma de células en anillo de sello colorrectal. Estudio de dos casos.

The signet-ring cell colorectal carcinoma is very uncommon. During the period 1985-89, we have diagnosed two cases among 1,135 adenocarcinomata located in the same place. They are the two first cases described in Spain, according to a computerized bibliographic search. We have to point up as clinical features of the tumor, the occurrence of its first signs in advanced stages of the disease and the small survival of the patients suffering from this tumor. Its great content of mucin facilitates the thromboembolic disease which was the first sign and the cause of legth in one of our patients. This type of tumor has worse prognosis than the usual colorectal carcinomata, including the mucinous one, and it is similar to the one of the poorly differentiated carcinoma.