Retinoblastoma in an older Hispanic child masquerading as pars planitis: A case report.

INTRODUCTION: To report a case of a Hispanic girl with late-onset Retinoblastoma (Rb) who was misdiagnosed as a pars planitis prior to referral. Nearly 95% of all Rb cases are detected before age 5, and this patient was 8 years-old. METHODS: Case report of a late-onset Retinoblastoma with anterior chamber (AC) involvement plus the presence of an Ahmed valve. The patient had a history of a couple of months of topical therapy comprising medication for glaucoma, systemic steroids, and a filtration surgery (Ahmed valve), after that a biopsy was performed prior to referral. Upon arrival at our clinic, we performed an examination under anesthesia (EUA) and a B-scan ultrasound (US). RESULTS: Unilateral Retinoblastoma with an Ahmed valve in an AC filled with Rb seeds was diagnosed with the EUA and US in the left eye. An orbital exenteration with map biopsies of the left orbital cavity was performed with confirmation by histopathology of a poorly differentiated endophytic retinoblastoma with Bruch's membrane invasion. Follow-up sessions were then arranged as well as subsequent systemic chemotherapy cycles. CONCLUSION: Given the rare incidence of retinoblastoma in children older than 5 years old, it can be easily mistaken for other differential diagnoses and treated with filtration surgeries that could put the patient's life at risk. In this report, late-onset Rb diagnosis is highlighted as a differential diagnosis in children and adults with atypical uveitis, which required a multidisciplinary approach.

Congenital medulloblastoma presented in the neonatal period.

Congenital medulloblastoma is a rare brain tumor that appears in less than 1% of pediatric patients. Congenital medulloblastoma has a poor prognosis and should be suspected in patients with clinical manifestations of hyporeactivity, slow suction reflexes, and the presence of hydrocephalus. Herein we present the case of a 12-day-old female newborn who developed non-communicative hydrocephalus, hyporeactivity, and hyporeflexia. Magnetic resonance imaging of her brain showed a heterogeneous and cystic mass on the posterior cranial fossa. A suboccipital craniotomy was performed. The histopathologic analysis reported a congenital medulloblastoma. She remained in hospital until her death at 112 days old. This is one of the first case reports with clinical-radiological and pathological documentation. Awareness of this diagnosis can allow prenatal intervention, rendering a better prognosis. This case report exemplifies the importance of good prenatal follow-up.

Non-sebaceous Lymphadenoma of the Parotid Gland Mimicking a Pleomorphic Adenoma.

Non-sebaceous lymphadenoma of the salivary glands is a rare benign lesion, first described in 1991. We present the case of a 54-year-old woman, with a right parotid mass. She underwent right superficial parotidectomy, and histopathology reported a non-sebaceous lymphadenoma due to an encapsulated lesion and multiple non-atypical epithelial inclusions without sebaceous differentiation. The etiology of non-sebaceous lymphadenoma is not yet understood, but it can arise predominantly from the parotid gland. Surgical excision is the treatment of choice.

Prenatal indole-3-carbinol administration activates aryl hydrocarbon receptor-responsive genes and attenuates lung injury in a bronchopulmonary dysplasia model.

Hyperoxia-hypoxia exposure is a proposed cause of alveolar developmental arrest in bronchopulmonary dysplasia in preterm infants, where mitochondrial reactive oxygen species and oxidative stress vulnerability are increased. The aryl hydrocarbon receptor (AhR) is one of the main activators of the antioxidant enzyme system that protects tissues and systems from damage. The present study aimed to determine if the activation of the AhR signaling pathway by prenatal administration of indole-3-carbinol (I3C) protects rat pups from hyperoxia-hypoxia-induced lung injury. To assess the activation of protein-encoding genes related to the AhR signaling pathway (Cyp1a1, Cyp1b1, Ugt1a6, Nqo1, and Gsta1), pup lungs were excised at 0, 24, and 72 h after birth, and mRNA expression levels were quantified by reverse transcription-quantitative polymerase chain reaction assays (RT-qPCR). An adapted Ratner's method was used in rats to evaluate radial alveolar counts (RACs) and the degree of fibrosis. The results reveal that the relative expression of AhR-related genes in rat pups of prenatally I3C-treated dams was significantly different from that of untreated dams. The RAC was significantly lower in the hyperoxia-hypoxia group (4.0 ± 1.0) than that in the unexposed control group (8.0 ± 2.0; P < 0.01). When rat pups of prenatally I3C-treated dams were exposed to hyperoxia-hypoxia, an RAC recovery was observed, and the fibrosis index was similar to that of the unexposed control group. A cytokine antibody array revealed an increase in the NF-κB signaling cascade in I3C-treated pups, suggesting that the pathway could regulate the inflammatory process under the stimulus of this compound. In conclusion, the present study demonstrates that I3C prenatal treatment activates AhR-responsive genes in pup's lungs and hence attenuates lung damage caused by hyperoxia-hypoxia exposure in newborns.

Congenital medulloblastoma presented in the neonatal period

Congenital medulloblastoma is a rare brain tumor that appears in less than 1% of pediatric patients. Congenital medulloblastoma has a poor prognosis and should be suspected in patients with clinical manifestations of hyporeactivity, slow suction reflexes, and the presence of hydrocephalus. Herein we present the case of a 12-day-old female newborn who developed non-communicative hydrocephalus, hyporeactivity, and hyporeflexia. Magnetic resonance imaging of her brain showed a heterogeneous and cystic mass on the posterior cranial fossa. A suboccipital craniotomy was performed. The histopathologic analysis reported a congenital medulloblastoma. She remained in hospital until her death at 112 days old. This is one of the first case reports with clinical-radiological and pathological documentation. Awareness of this diagnosis can allow prenatal intervention, rendering a better prognosis. This case report exemplifies the importance of good prenatal follow-up.

Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico.

Triple negative breast cancer (TNBC) is a subtype of breast cancer of heterogeneous nature that is negative for estrogen receptor (ER), progesterone receptor (PR) and growth factor human epidermal 2 (HER2) following immunohistochemical analysis. TNBC is frequently characterized by relapse and reduced survival. To date, there is no targeted therapy for this type of cancer. Chemotherapy, radiotherapy, and surgery remain as the standard treatments options. The lack of a target therapy and the heterogeneity of TNBC highlight the need to seek new therapeutic options. In this study, fresh tissue samples of TNBC were analyzed with a panel of 48 driver genes (212 amplicons) that are likely to be therapeutic targets. We found intron variants, missense, stop gained and splicing variants in TP53, PIK3CA and FLT3 genes. Interestingly, all the analyzed samples had at least two variants in the TP53 gene, one being a drug response variant, rs1042522, found in 94% of our samples. We also found seven additional variants not previously reported in the TP53 gene, to the best of our knowledge, with probable deleterious characteristics of the tumor suppressor gene. We found four genetic variants in the PIK3CA gene, including two missense variants. The rs2491231 variant in the FLT3 gene was identified in 84% (16/19) of the samples, which not yet reported for TNBC, to the best of our knowledge. In conclusion, genetic variants in TP53 were found in all TNBC tumors, with rs1042522 being the most frequent (94% of TNBC biopsies), which had not been previously reported in TNBC. Also, we found two missense variants in the PIK3CA gene. These results justify the validation of these genetic variants in a large cohort, as well as the extensive study of their impact on the prognosis and therapy management of TBNC.

Ectopic Germinoma in the Corpus Callosum with Severe Restrictive Anorexia: Case Report and Review of Literature.

BACKGROUND: Intracranial germ cell tumors are a rare group of neoplasms constituting 1% to 2% of primary intracranial tumors in North America and Europe. Germinomas of the corpus callosum are exceedingly rare, accounting for only 0.7% of all intracranial germ cell tumors. CASE DESCRIPTION: We report a case of germinoma in the corpus callosum of a 17-year-old woman with a 2-year history of personality change, anorexia, amnesia, hypersomnia, and depression. Magnetic resonance imaging showed a well-circumscribed, heterogeneous mass measuring 2.9 × 5 × 3.1 cm, with multiple cystic areas and heterogeneous enhancement with gadolinium. It arose in the corpus callosum and extended to the fornix and frontal lobes. There was mild perilesional edema but no evidence of hypothalamus or hippocampus involvement. No spinal drop metastases were visualized on magnetic resonance imaging. Cerebrospinal fluid and serum levels of alpha-fetoprotein, beta-human chorionic gonadotropin, carcinoembryonic antigen, and placental alkaline phosphatase were all normal. Immunohistologic staining of tumor cells was positive for OCT3/4, placental alkaline phosphatase, and CD117 and negative for CD30 and GPC3. Radiotherapy led to a substantial decrease in tumor size. CONCLUSION: This is a case of germinoma arising in the corpus callosum that presented clinically with an eating disorder manifested as restrictive anorexia.

Primary Spinal Cord Small-Cell Glioblastoma: Case Report and Literature Review.

BACKGROUND: Approximately 2%-10% of all central nervous system tumors are primary spinal cord tumors (SCTs). Spinal cord glioblastoma is a rare tumor type accounting for 1%-3% of all SCTs and 7.5% of all spinal cord gliomas. Notably, the small-cell variant of spinal cord glioblastoma is even rarer with only 2 previously reported cases. CASE DESCRIPTION: We present herein a case report of a rare primary spinal cord glioblastoma in a 48-year-old patient with a 2-month history of numbness in the left arm and mild cervical pain radiating to the occipital zone. Clinical examination revealed hypoalgesia and thermal dissociation of the left arm and the ipsilateral superior part of the trunk treated through subtotal surgical resection followed by adjuvant chemotherapy and radiotherapy. Histologic examination of the surgical tumor specimen revealed features of the small-cell spinal cord glioblastoma. CONCLUSIONS: To the best of our knowledge, this is only the third reported case of small-cell spinal cord glioblastoma. The aggressive nature of this tumor variant reduces overall survival rate regardless of the treatment.

Coccidioidomycosis in Biopsies with Presumptive Diagnosis of Malignancy in Dogs: Report of Three Cases and Comparative Discussion of Published Reports.

Coccidioidomycosis is a respiratory fungal infection with occasional systemic dissemination. The disseminated coccidioidomycosis is considered a multifaceted disease. In medicine, disseminated coccidioidomycosis is included within a group of infectious diseases that have been referred as the great imitators. In many cases, malignancies are included in the presumptive diagnosis. In veterinary medicine, disseminated coccidioidomycosis is common in dogs. Nonetheless, despite of being a diagnostic dilemma, disseminated coccidioidomycosis is underestimated and frequently not included into differentials, even in endemic zones. Herein, we describe three cases of granulomatous inflammation caused by Coccidioides spp. which were masquerading malignancies in dogs (0.39 %). The presumptive diagnoses in these cases were osteosarcoma, lymphoma and neurofibroma, respectively. A PCR assay employing tissues in paraffin blocks resulted positive for C. posadasii in one of these cases. A comparative discussion on the ambiguous clinic-pathological presentation of disseminated coccidioidomycosis in dogs and humans is included.

Lipoblastoma de mediastino en un paciente de 14 años de edad / Mediastinum lipoblastoma in a 14 year old patient

Se presenta un caso de lipoblastoma benigno de mediastino en un niño de 14 años de edad atendido en el Hospital Universitario "Dr. José E. González", Monterrey, N.L. Esta patología es muy poco frecuente, sobre todo en esta edad y en esta localización. Se trata de un tumor benigno que requiere resección completa. Al paciente se le practicó una tocacotomía anterolateral bilateral resecando completamente el tumor, siendo su peso de 3,100 g y midiendo 26 por 21 cm. La evolución fué satisfactoria