Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions.

Classification of follicular-patterned thyroid lesions using a minimal set of epigenetic biomarkers.

Objective: The minimally invasive fine-needle aspiration cytology (FNAC) is the current gold standard for the diagnosis of thyroid nodule malignancy. However, the correct discrimination of follicular neoplasia often requires more invasive diagnostic techniques. The lack of suitable immunohistochemical markers to distinguish between follicular thyroid carcinoma and other types of follicular-derived lesions complicates diagnosis, and despite most of these tumours being surgically resected, only a small number will test positive for malignancy. As such, the development of new orthogonal diagnostic approaches may improve the accuracy of diagnosing thyroid nodules. Design: This study includes a retrospective, multi-centre training cohort including 54 fresh-frozen follicular-patterned thyroid samples and two independent, multi-centre validation cohorts of 103 snap-frozen biopsies and 33 FNAC samples, respectively. Methods: We performed a genome-wide genetic and epigenetic profiling of 54 fresh-frozen follicular-patterned thyroid samples using exome sequencing and the Illumina Human DNA Methylation EPIC platform. An extensive validation was performed using the bisulfite pyrosequencing technique. Results: Using a random forest approach, we developed a three-CpG marker-based diagnostic model that was subsequently validated using bisulfite pyrosequencing experiments. According to the validation cohort, this cost-effective method discriminates between benign and malignant nodules with a sensitivity and specificity of 97 and 88%, respectively (positive predictive value (PPV): 0.85, negative predictive value (NPV): 0.98). Conclusions: Our classification system based on a minimal set of epigenetic biomarkers can complement the potential of the diagnostic techniques currently available and would prioritize a considerable number of surgical interventions that are often performed due to uncertain cytology. Significance statement: In recent years, there has been a significant increase in the number of people diagnosed with thyroid nodules. The current challenge is their etiological diagnosis to discount malignancy without resorting to thyroidectomy. The method proposed here, based on DNA pyrosequencing assays, has high sensitivity (0.97) and specificity (0.88) for the identification of malignant thyroid nodules. This simple and cost-effective approach can complement expert pathologist evaluation to prioritize the classification of difficult-to-diagnose follicular-patterned thyroid lesions and track tumor evolution, including real-time monitoring of treatment efficacy, thereby stimulating adherence to health promotion programs.

Fulminant Sepsis Caused by Leclercia adecarboxylata in a Premature Neonate: Case Report and Review of the Literature.

Hospital-acquired infections are especially evident in premature infants because of prolonged stays and the need for invasive procedures. Leclercia adecarboxylata is an uncommon emerging Gram-negative bacterium that has been described in catheter and noncatheter-related infections, immunocompromised patients and less frequently affecting healthy subjects. We report a case with a postmortem diagnosis of a 24-week-old premature neonate who died as a complication of nosocomial sepsis related to an infection by L. adecarboxylata. Although the cases of L. adecarboxylata infection in children have been rarely reported, this case appears to be the first in which an infection by L. adecarboxylata is accompanied by focal spontaneous ileal perforation.

Spontaneous twin anemia-polycythemia sequence from two donors to one recipient in a monochorionic triamniotic pregnancy: Case report and review of the literature.

Monochorionic triamniotic (MCTA) pregnancies present a high number of complications, mainly due to the presence of unbalanced vascular anastomoses, such as twin anemia-polycythemia sequence (TAPS). Previous reported cases related to TAPS are in twin pregnancies or only affect the monochorionic component of dichorionic triamniotic (DCTA) pregnancies. We report an exceptional case, the only one reported as far as we know, of a MCTA pregnancy that developed a TAPS in which the three triplets are implicated, from two donors to one recipient. The pregnancy had been previously sonographically diagnosed as DCTA pregnancy and this could not explain the clinical results. The pathological study of the placenta showed the presence of three monochorionic dividing membranes, a congested area in the recipient parenchyma and two non-congested areas in the donor's parenchyma that confirmed the clinical findings. Pathological study of multiple placentas should always be done because it provides understanding of pregnancy complications.

Treatment of infantile fibrosarcoma associated to an abdominal aortic aneurysm with larotrectinib: a case report.

Infantile fibrosarcoma (IFS) is a rare pediatric tumor which often presents the ETV6-NTRK3 gene fusion. NTRK3 encodes the neurotrophin-3 growth factor receptor tyrosine kinase, a druggable therapeutic target. Selective tropomyosin receptor kinase (TRK) inhibitors, such as larotrectinib, have shown efficacy and safety in the treatment of IFS. We report a case of an abdominal IFS diagnosed in a newborn associated with an aortic aneurysm that was successfully treated with larotrectinib without relevant adverse effects.

Granuloma por silicona líquida en regiones pretibiales tras su inyección en región glútea / Silicone granuloma in pretibial regions after its injection in gluteal region

En la actualidad, la inyección de materiales en el subcutáneo con fin estético es frecuente. Comunicamos el caso de una paciente con lesiones esclerodermiformesen ambas regiones pretibiales, en cuyo estudio histopatológico se observó un granuloma por silicona. Años atrás la paciente se había sometido ala inyección de un material de relleno en la región glútea. Se trata, por tanto, de un granuloma de cuerpo extraño por silicona que ha migrado a distanciadel lugar de la inoculación. El diagnóstico de este cuadro puede ser difícil. El tratamiento es complicado y, en general, no satisfactorio

Nowadays inoculation of materials for soft tissues augmentation is common. We report the case of a woman with sclerodermiform lessions in pretibialregions, characterized by a silicone granuloma. The histopathologic study in some years ago, she have seen inoculated of an unknown material in glutealregion. This case is a foreing body granuloma caused by silicone migrated from the inoculation site. Diagnosis of this conditions disease may bedifficult, and treatment is often unsatisfactory

[Annular elastolytic giant cell granuloma: a case report located in non-sun exposed areas]. / Granuloma elastolítico anular de células gigantes: a propósito de un caso localizado en áreas no fotoexpuestas.

Annular elastolytic giant cell granuloma (AEGCG) is an uncommon entity clinically characterized by erythematous annular plaques with atrophic and hypopigmented center, that predominates in sun-exposed zones. The histology shows a granulomatous infiltrate without palisading image, made up of lymphocytes, histiocytes and giant cells, with phagocytosis of elastic fibers, without necrobiosis or mucin deposit. We present the case of a male patient with atypical clinical manifestation on the non-sun exposed skin and AEGCG characteristic histology.

Granuloma elastolítico anular de células gigantes: a propósito de un caso localizado en áreas no fotoexpuestas / Annular elastolytic giant cell granuloma: a case report located in non-sun exposed areas

El granuloma elastolítico anular de células gigantes (GEACG) es una entidad poco frecuente, caracterizada clínicamente por placas eritematosas anulares de centro atrófico e hipopigmentado, que predominan en zonas fotoexpuestas. En la histología presentan un infiltrado granulomatoso sin formación de imagen en empalizada, compuesto por linfocitos, histiocitos y células gigantes, con fagocitosis de fibras elásticas, sin necrobiosis ni depósito de mucina. Presentamos el caso de un paciente con manifestaciones clínicas atípicas en piel no fotoexpuesta, y una histología característica de GEACG

Annular elastolytic giant cell granuloma (AEGCG) is an uncommon entity clinically characterized by erythematous annular plaques with atrophic and hypopigmented center, that predominates in sun-exposed zones. The histology shows a granulomatous infiltrate without palisading image, made up of lymphocytes, histiocytes and giant cells, with phagocytosis of elastic fibers, without necrobiosis or mucin deposit. We present the case of a male patient with atypical clinical manifestation on the non-sun exposed skin and AEGCG characteristic histology