[Childhood cancer in a tertiary care hospital in Madrid. Evolution of survival. Years 1999-2016].

Introduction: Cancer is the leading cause of death from disease in children. Some epidemiological aspects of childhood cancer obtained from the Tumour Registry of a tertiary care hospital in Madrid are detailed, in order to provide useful information for the management of cancer in this group of patients.

Material And Methods: Descriptive and retrospective analysis of the data from the Hospital's Tumour Registry (period 1999-2016), with the aim of analysing the incidence (overall, and by diagnostic categories) and survival (overall, by diagnostic groups and cohorts of years of diagnosis) of childhood cancer.

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.

Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth defect in humans-and dermatoglyphics is inconsistent, with some studies reporting altered pattern frequencies and/or increased asymmetry and others failing to find differences. To investigate dermatoglyphics in orofacial clefting, we obtained dermatoglyphic patterns in a large multiethnic cohort of orofacial cleft cases (N = 367), their unaffected family members (N = 836), and controls (N = 299).

Prognostic relevance of Src activation in stage II-III colon cancer.

Src belongs to a family of cytoplasmic tyrosine kinases that play a key role in tumor initiation and progression. Src activation has been associated with a more aggressive neoplastic phenotype and induces resistance to platinum agents in preclinical models. The aim of our study was to assess the prognostic and/or predictive value of Src activation in patients with stage II-III colon cancer.

A Transposon-based Analysis Reveals Is Involved in Triple-Negative Breast Cancer.

RAS genes are mutated in 20% of human tumors, but these mutations are very rare in breast cancer. Here, we used a mouse model to generate tumors upon activation of a mutagenic T2Onc2 transposon via expression of a transposase driven by the keratin K5 promoter in a p53 background. These animals mainly developed mammary tumors, most of which had transposon insertions in one of two RASGAP genes, neurofibromin1 () and RAS p21 protein activator ().

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P.

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized.

Esophageal verruciform xanthoma following radiotherapy.

Verruciform xanthoma (VX) is an uncommon benign lesion of unclear etiology which has only been reported twice before in the esophagus. We describe a 70-year-old male who presented an exophytic esophageal lesion incidentally found upon endoscopy 2.7 years following radiation therapy for unresectable squamous cell carcinoma of the tracheal carina.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin.

Objective: We sought to describe a new type of complex hamartoma in patients with TSC.

Methods: This was a retrospective clinical and histopathologic evaluation of 6 cases.

EBV-associated hepatic smooth muscle tumor after lung transplantation: report of a case and review of the literature.

Post-transplant smooth muscle tumors (PTSMTs) are a rare and recently recognized neoplasm associated with Epstein-Barr virus (EBV). We describe the clinicopathologic, immunohistochemical and molecular features of a new case of EBV-associated PTSMT arising in the liver of a 55-year-old lung transplant recipient for lymphangioleiomyomatosis. To our knowledge, this is the third smooth muscle tumor (the second one proved to be associated with EBV) after lung transplantation.

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts.

Undifferentiated carcinoma of the jejunum with extensive rhabdoid features. Case report and review of the literature.

Malignant rhabdoid tumor, first described in the kidney of young infants, is a rare and highly aggressive neoplasm of controversial histogenesis that has been reported at many other sites, including the gastrointestinal tract. However, malignant rhabdoid tumor of the small intestine is very rare, with only seven cases published to date. We report a 70-year-old man who presented with abdominal pain and weight loss, and showed a perforated jejunal mass with disseminated metastases by imaging.

Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases.

Emerging research suggests that subepithelial defects of the upper lip musculature are part of the phenotypic spectrum of cleft lip and/or palate (CL/P) and may represent an occult, subclinical manifestation of the anomaly. The present study investigates whether similar occult lip defects are present in individuals affected with isolated cleft palate (CP). To this end, upper lip ultrasounds of 33 CP cases (12 males, 21 females) were evaluated retrospectively for the presence of discontinuities (i.

Extraskeletal cutaneous chondroblastic osteosarcoma: a case report.

Extraskeletal osteosarcoma is an uncommon neoplasm that usually arises in the deep soft tissues, especially in the lower extremities, with rare cases involving the subcutis or dermis. We report a 60-year-old man with an enlarging cutaneous mass in the right lower thigh. An incisional skin biopsy showed a well-defined, but non-encapsulated neoplasm, characterized by extensive cartilage with marked cellularity, atypia and high mitotic activity, involving the dermis and subcutis.

Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip+/-cleft palate is a complex disease with a wide phenotypic spectrum; occult defects of the superior orbicularis oris muscle may represent the mildest subclinical form of the lip portion of the phenotype. This study used high-resolution ultrasonography to compare the frequency of discontinuities in the OO muscle in 525 unaffected relatives of individuals with nonsyndromic cleft lip+/-cleft palate versus 257 unaffected controls. OO muscle discontinuities were observed in 54 (10.

Fine needle aspiration of chromophobe renal cell carcinoma.

Objective: To describe the cytomorphologic findings of chromophobe renal cell carcinoma (CRCC) in order to preoperatively distinguish this rare neoplasm from other primary or secondary tumors arising from the kidney or presenting as retroperitoneal masses.

Study Design: Clinical data, fine needle aspiration (FNA) and follow-up surgical specimens from 4 patients with CRCC (3 primaries and 1 metastatic to the liver) were reviewed. Electron microscopy was available for 2 histologic specimens.

Cutaneous presentation on the eyelid of primary, systemic, CD30+, anaplastic lymphoma kinase (ALK)-negative, anaplastic large-cell lymphoma (ALCL).

Aim: To report an unusual case of cutaneous presentation on the eyelid of systemic (or nodal), CD30+, anaplastic large-cell lymphoma (ALCL).

Methods: A 39-year-old man presented with a rapidly growing exophytic mass on the left upper eyelid, with a protuberant, ulcerated aspect and with discharge. The patient showed lymph node involvement 3 months after the appearance of the lesion on the eyelid (the lesion itself appeared 1 week before examination).

The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.

The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts.

[Unusual complications of cardiac catheterization via the radial artery].

Use of the radial artery for cardiac catheterization has significantly reduced the incidence and severity of complications at the access site. Nevertheless, occasionally unusual complications or atypical responses to treatment are observed. We describe two cases: a radial artery pseudoaneurysm that was unresponsive to compression treatment and a foreign-body inflammatory reaction at the radial artery access site.

Non-monomelic synchronous primary multicentric chondrosarcoma: a case report.

We report a patient with simultaneous presentation of two histologically grade 2 conventional chondrosarcomas non-derived from pre-existing cartilaginous lesions, in the absence of pulmonary or visceral involvement. One tumour was located at the right proximal femur and the other one at the right scapula. There was no evidence of local recurrence or pulmonary or visceral involvement three years and a half after total scapulectomy and resection of the proximal third of the femur.

Basal cell carcinoma in childhood after radiation therapy: case report and review.

We describe 2 patients who received ionizing radiation as part of a curative regimen for childhood malignancy which later developed basal cell carcinoma at an early age. They do not occur within the context of well-defined syndromes, such like basal cell nevus syndrome, albinism, or xeroderma pigmentosum. Basal cell carcinomas appears on radiated areas in older individuals, less often in younger patients, in which the period of latency between exposure to radiation and the appearance of basal cell carcinomas is shorter than in older patients.

Paratesticular congenital malignant rhabdoid tumor diagnosed by fine-needle aspiration cytology. a case report.

We report the FNA features of a congenital malignant extrarenal rhabdoid tumor (MERT) located in the right paratesticular area of a newborn full-term boy (39 wk gestation), with disseminated metastases in the liver and right parietal region. The diagnosis was suggested two days after birth by fine-needle aspiration biopsy (FNAB) of the parietal mass, which demonstrated an atypical large cell proliferation with vesicular nuclei, prominent nucleoli, and abundant cytoplasm exhibiting paranuclear dense inclusions. The diagnosis was confirmed by histopathologic and immunohistochemical examination of the primary paratesticular tumor.

Ossifying adult xanthogranuloma.

Although a xanthogranuloma is a relatively common benign cutaneous condition and ossification has been observed within many cutaneous lesions, the association between ossification and xanthogranuloma has not, to our knowledge, been reported previously. We believe we describe for the first time the case of a xanthogranuloma with marked osseous metaplasia on the trunk of a 41-year-old woman. Microscopically, the lesion showed typical features of a xanthogranuloma, with the exceptional feature of exuberant bone formation.

Cutaneous papillary squamous cell carcinoma. Report of three new cases and review of the literature.

Squamous cell carcinoma is one of the most common malignant cutaneous tumors. Several histological variants have been described; the papillary subtype is one of the most infrequent, with only four cases having being reported previously. We report three new cases of this unusual variant of cutaneous squamous cell carcinoma, review the literature and consider the main differential diagnoses.