Anorectal malignant melanoma, a diagnostic challenge.

Malignant anorectal melanoma is an extremely rare cause of rectal neoplasia, accounting for less than 1% of all melanomas and about 4% of all malignant colorectal neoplasms. We present the endoscopic and pathological images of a case in our clinical practice.

Generation of a H9 Clonal Cell Line With Inducible Expression of NUP98-KDM5A Fusion Gene in the AAVS1 Safe Harbor Locus.

Pediatric acute myeloid leukemia (AML) is a rare and heterogeneous disease that remains the major cause of mortality in children with leukemia. To improve the outcome of pediatric AML we need to gain knowledge on the biological bases of this disease. NUP98-KDM5A (NK5A) fusion protein is present in a particular subgroup of young pediatric patients with poor outcome. We report the generation and characterization of human Embryonic Stem Cell (hESC) clonal lines with inducible expression of NK5A. Temporal control of NK5A expression during hematopoietic differentiation from hESC will be critical for elucidating its participation during the leukemogenic process.

Accuracy in optical diagnosis for polyps between 5 and 15 mm and its implications on surveillance. A prospective, multicenter study. (POPS study).

BACKGROUND AND AIMS: Polyps histology and diameter up to 1 cm determine whether a patient needs a colonoscopy after 3 years or less, or far ahead. Endoscopists' and pathologists' size estimations can be imprecise. Our aim was to assess endoscopist ability to correctly recommend surveillance colonoscopies for patients with polyps around the 10 mm threshold, based on its endoscopic sizing and optical diagnosis by NBI. METHODS: NBI-assisted diagnosis and endoscopist estimation of polyp size were compared with reference standard, considering this as the post resection polyp measurements by the nurse assistant and the pathologic results, in a prospective, multicenter, real life study, that recruited adults undergoing colonoscopy in five hospitals. By comparing the endoscopic and pathologist size estimation, with polyps' measurement after resection, and optical and histological diagnoses in patients with polyps between 5 and 15 mm, sensitivity was assessed at the patient level by means of two characteristics: the presence of adenoma, and the surveillance interval. Surveillance intervals were established by the endoscopist, based on optical diagnosis, and by another gastroenterologist, grounded on the pathologic report. Determinants of accuracy were explored at the polyp level. RESULTS: 532 polyps were resected in 451 patients. Size estimation was more precise for the endoscopist. Endoscopist sensitivity for the presence of adenoma or carcinoma was 98.7%. Considering the presence of high-grade dysplasia or cancer, sensitivity was 82.6% for the endoscopic optical diagnosis. Sensitivity for a correct 3-year surveillance interval was 91.5%, specificity 82.3%, with a PPV of 93.2% and NPV of 78.5% for the endoscopist. 6.51% of patients would have had their follow-up colonoscopy delayed, whereas 22 (4.8%) would have it been performed earlier, had endoscopist recommendations been followed. CONCLUSION: Our study observes that NBI optical diagnosis can be recommended in routine practice to establish surveillance intervals for polyps between 5 and 15 mm. CLINICAL TRIALS REGISTRATION NUMBER: NCT04232176.

Proctitis in men having sex with men: anything else you can think of?

We report two cases of proctitis in men having sex with men.

Strongyloides stercoralis with Gastroduodenal Involvement and Complicated with SIADH: An Unusual Diagnosis to Consider in Immunosuppressed Patients with Hyperemesis and Eosinophilia.

Strongyloides stercoralis is an intestinal nematode that colonizes and reproduces in the upper small intestinal mucosa. Infection in immunocompetent hosts is self-limited but in immunocompromised patients it can be complicated and cause hyperinfection. We present a 60-year-old female who was admitted due to an exacerbation of acquired thrombotic thrombocytopenic purpura requiring high doses of corticosteroids. The patient began to experience persistent pyrosis, nausea, vomiting, and oral intolerance. She was di-agnosed with syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Upper endoscopy was performed and showed esophageal, gastric, and duodenal mucosa with edema and erythema. Moreover, there were superficial erosions and thickened folds in duodenum. Gastric and duodenal biopsies were taken. Abdominal computed tomography and magnetic enteroresonance displayed duodenal dilation and inflammatory changes. The histological study of biopsies showed colonization by S. stercolaris in the antrum and duodenum. S. stercolaris is a human parasite that is endemic in tropical, subtropical, and temperate regions. Its lifecycle is complex because it completes its entire cycle within the human host; it penetrates the skin, migrates to the lungs, and reach the gastrointestinal tract. The most affected site is the duodenum and upper jejunum. The lifecycle includes autoinfection through the intestinal mucosa or perianal skin, especially in immunocompromised hosts. Immunossuppression can lead to hyperinfection syndrome and disseminated disease. However, involvement of the stomach has relatively rarely been reported. SIADH has been related to systemic hyperinfection, although the mechanism is not clear. The relatively nonspecific clinical and imaging features and the low sensitivity of routine parasite tests make the diagnosis challenging and delayed.

Strongyloides stercoralis é um nematódo intestinal que coloniza e se reproduz na mucosa do intestino delgado proximal. A infeção em hospedeiros imunocompetentes é auto-limitada mas em doentes imunocomprometidos pode ter um curso complicado e causar hiperinfeção. Apresentamos um caso de uma mulher de 60 anos que é admitida devido a uma exacerbação de uma púrpura trombocitopénica trombótica adquirida com necessidade de altas doses de corticoides. A doente inicia quadro de pirose persistente, náuseas, vómitos e intolerância alimentar. Faz-se o diagnóstico de síndrome de secreção inapropriada de hormona antidiurética (SIADH). A endoscopia digestiva alta evidencia mucosa gástrica e duodenal com edema e eritema, para além de erosões e pregas espessadas duodenais. O TC e a enteroRMN mostram dilatação duodenal e alterações inflamatórias. A histologia mostra S. stercoralis a colonizar a mucosa do antro e duodeno. O S. stercolaris é um parasita humano, endémico em regiões tropicais e subtropicais. Tem um ciclo de vida complexo já que completa o seu ciclo todo dentro do organismo humano: penetra pela pele, migra para os pulmões e atinge o trato gastrointestinal. Os sítios mais afetados são o duodeno e o jejuno proximal. O ciclo de vida envolve autoinfeção na mucosa intestinal ou pele perianal, especialmente em doentes imunocomprometidos, com a imunodepressão podendo levar a síndrome de hiperinfeção e doença disseminada. Contudo, o envolvimento gástrico é raramente descrito. O SIADH tem sido relacionado com o síndrome de hiperinfeção, contudo, o seu mecanismo não é claro. O relativo inespecífico quadro clínico e alterações imagiológicas, assim como a baixa sensibilidade dos testes de parasitas de rotina atrasam e fazem o diagnóstico desafiante.

Intestinal spirochetosis: normal intestinal flora or etiology of diarrhea?

A 22-year-old male began with up to 12 loose stools per day, with mucus and no blood. They were present for two months, even during the night. Moreover, he complained of abdominal pain and weight loss. There were no findings on the blood tests. Fecal calprotectin was 225 µg/g. Stool microbiology tests were negative. Ileocolonoscopy displayed normal mucosa but the histological study of the biopsies showed Treponemas genus Brachispira. The patient had a sexual risk behavior. Treatment with metronidazole was initiated with clinical improvement.

Diagnóstico mediante EBUS-TBNA de reacción granulomatosa secundaria a Surgicel en adenopatía mediastínica / EBUS-TBNA diagnosis of a granulomatous reaction to Surgicel in mediastinal adenopathy

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Uncovering Tumour Heterogeneity through PKR and nc886 Analysis in Metastatic Colon Cancer Patients Treated with 5-FU-Based Chemotherapy.

Colorectal cancer treatment has advanced over the past decade. The drug 5-fluorouracil is still used with a wide percentage of patients who do not respond. Therefore, a challenge is the identification of predictive biomarkers. The protein kinase R (PKR also called EIF2AK2) and its regulator, the non-coding pre-mir-nc886, have multiple effects on cells in response to numerous types of stress, including chemotherapy. In this work, we performed an ambispective study with 197 metastatic colon cancer patients with unresectable metastases to determine the relative expression levels of both nc886 and PKR by qPCR, as well as the location of PKR by immunohistochemistry in tumour samples and healthy tissues (plasma and colon epithelium). As primary end point, the expression levels were related to the objective response to first-line chemotherapy following the response evaluation criteria in solid tumours (RECIST) and, as the second end point, with survival at 18 and 36 months. Hierarchical agglomerative clustering was performed to accommodate the heterogeneity and complexity of oncological patients' data. High expression levels of nc886 were related to the response to treatment and allowed to identify clusters of patients. Although the PKR mRNA expression was not associated with chemotherapy response, the absence of PKR location in the nucleolus was correlated with first-line chemotherapy response. Moreover, a relationship between survival and the expression of both PKR and nc886 in healthy tissues was found. Therefore, this work evaluated the best way to analyse the potential biomarkers PKR and nc886 in order to establish clusters of patients depending on the cancer outcomes using algorithms for complex and heterogeneous data.

Mieloma múltiple no secretor con cambios oncocíticos / Oncocytic nonsecretory multiple myeloma

Introducción: Se presenta una variante morfológicainusual de mieloma múltiple no secretor. Material/Método:Mujer de 37 años, con lesiones osteolíticas en pala ilíacaderecha, cráneo, mandíbula y ambas clavículas. Los estudiosde inmunoglobulinas y cadenas ligeras en sangre eran normales,y las cadenas ligeras en orina eran negativas. Resultados:El examen histológico de una biopsia de pala ilíacamuestra una proliferación de células plasmáticas con citoplasmaeosinófilo. El estudio inmunohistoquímico revelapositividad para IgG y cadena ligera lambda. Ultraestructuralmente,el citoplasma de las células plasmáticas neoplásicasse encuentra casi totalmente ocupado por mitocondrias.Conclusiones: El mieloma múltiple con cambios oncocíticoses una variante muy rara de mieloma no secretor, existiendomuy pocos casos comunicados en la literatura

Introduction: An extremely rare variant of non-secretorymyeloma is reported. Patients and methods: A 37-year-old woman presented osteolytic lesions in right ilium,skull, mandible, and both clavicles. Serum immunoglobulinsand light chains were normal. Urine light chains werenegative. Results: Histologic examination of an iliumbiopsy revealed a proliferation of neoplastic plasma cellsexhibiting eosinophilic cytoplasm. Immunohistochemicalstains showed positivity for lambda light chain and IgG.Ultrastructurally, the neoplastic cell cytoplasm was almostcompletely occupied by mitochondria. Conclusions: Multiplemyeloma with oncocytic change is an extremely rarevariant of non-secretory myeloma (only three similar caseswere found to be reported in the literature)

Leiomiosarcoma bien diferenciado de ovario / Primary well-differentiated ovarian leiomyosarcoma

Objetivos: Se presenta un leiomiosarcoma primario de ovario. Estas neoplasias son extremadamente raras habiéndose comunicado aproximadamente unos 30 casos en la literatura revisada. Descripción del Caso: Una mujer de 84 años ingresó en el hospital por dolor e incremento del diámetro abdominal. La exploración demostró una gran masa sólida en región abdominal. Se realizó exéresis tumoral e histerectomía total más doble anexectomía con linfadenectomía ilíaca bilateral. El estudio anatomopatológico evidenció que se trataba de un leiomiosarcoma bien diferenciado de ovario derecho. Discusión: Los leiomiosarcomas primarios de ovario son neoplasias infrecuentes que deben incluirse en el diagnóstico diferencial de masas ováricas. En general son de comportamiento muy agresivo recomendándose un tratamiento quirúrgico radical. En este caso tras un seguimiento de 24 meses la paciente está libre de enfermedad (AU)