Papillary Thyroid Carcinoma in Ectopic Thyroid Tissue Within a Suspected Cervical Paraganglioma.

ABSTRACT: Ectopic differentiated thyroid carcinoma represents less than 1% of all thyroid carcinoma cases, which usually arises along the cervical midline, and (delving into literature) there are scarce reports of such entity in nuclear medicine imaging studies. We present a rare case of a confirmed synchronous, orthotopic, and heterotopic (in lateral ectopic thyroid tissue) differentiated thyroid carcinoma in a patient who was previously misdiagnosed as having a cervical paraganglioma, based on compatible clinical, analytical, and imagenological (both structural and functional) findings.

Fatal disseminated infection by Gymnascella hyalinospora in a heart transplant recipient.

We report the first case of disseminated infection by Gymnascella hyalinospora in a solid organ transplant recipient. This case highlights the role of low-virulence environmental molds as an emerging cause of breakthrough invasive fungal infection in immunocompromised hosts. Nosocomial strategies of infection control including antimicrobial stewardship and advances on fast diagnostic methods are strongly encouraged to improve patient prognosis.

Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study.

PURPOSE: Genetic heterogeneity between primary tumors and their metastatic lesions has been documented in several breast cancer studies. However, the selection of therapy for patients with metastatic breast cancer and the search for biomarkers for targeted therapy are often based on findings from the primary tumor, mainly because of the difficulty of distant metastasis core biopsies. New methods for monitoring genomic changes in metastatic breast cancer are needed (ie, circulating tumor DNA [ctDNA] genomic analysis). The objectives of this study were to assess the concordance of genomic variants between primary and metastatic tumor tissues and the sensitivity of plasma ctDNA analysis to identify variants detected in tumor biopsies. PATIENTS AND METHODS: Next-generation sequencing technology was used to assess the genomic mutation profile of a panel of 54 cancer genes in matched samples of primary tumor, metastatic tumor, and plasma from 40 patients with metastatic breast cancer. RESULTS: Using Ion Torrent technology (ThermoFisher Scientific, Waltham, MA), we identified 110 variants that were common to the primary and metastatic tumors. ctDNA analysis had a sensitivity of 0.972 in detecting variants present in both primary and metastatic tissues. In addition, we identified 13 variants in metastatic tissue and ctDNA not present in primary tumor. CONCLUSION: We identified genomic variants present in metastatic biopsies and plasma ctDNA that were not present in the primary tumor. Deep sequencing of plasma ctDNA detected most DNA variants previously identified in matched primary and metastatic tissues. ctDNA might aid in therapy selection and in the search for biomarkers for drug development in metastatic breast cancer.

Enfermedad pulmonar venooclusiva en una mujer jardinera / Pulmonary Veno-Occlusive Disease in a Female Gardener

La enfermedad pulmonar venooclusiva es una forma infrecuente de hipertensión arterial pulmonar y su pronóstico es sombrío. El diagnóstico suele ser tardío y el único tratamiento curativo en la actualidad es el trasplante pulmonar. Presentamos el caso de una mujer jardinera de 51 años cuyo diagnóstico se obtuvo por biopsia pulmonar abierta realizada previamente a su fallecimiento. Si bien existen casos reportados de enfermedad venooclusiva hepática secundaria a agentes tóxicos presentes en la naturaleza, como el alcaloide pirrolizidina, hasta el momento no se han relacionado con la enfermedad a nivel pulmonar

Pulmonary veno-occlusive disease (PVOD) is a subgroup of pulmonary arterial hypertension with a poor prognosis. The diagnosis is usually delayed and treatment options other than lung transplantation are unfortunately limited. We report the case of 51-year-old female gardener diagnosed with PVOD by open lung biopsy before her death. Although there are many reported cases of hepatic veno-occlusive disease due to toxic agents present in nature, such as pyrrolizidine alkaloid exposure, to date this has not been linked to PVOD

Pulmonary veno-occlusive disease in a female gardener.

Pulmonary veno-occlusive disease (PVOD) is a subgroup of pulmonary arterial hypertension with a poor prognosis. The diagnosis is usually delayed and treatment options other than lung transplantation are unfortunately limited. We report the case of 51-year-old female gardener diagnosed with PVOD by open lung biopsy before her death. Although there are many reported cases of hepatic veno-occlusive disease due to toxic agents present in nature, such as pyrrolizidine alkaloid exposure, to date this has not been linked to PVOD.

Cystosarcoma phyllodes of the breast: a case report in a 12-year-old girl.

Breast tumors in adolescents are very rare and mostly benign. Fibroadenomas are the most frequent, but within the extensive differential diagnosis, the phyllodes tumor must be mentioned, which accounts for about 1% of breast tumors and the diagnosis of which is very rare in patients younger than 20 years. There are no specific symptoms or radiological images to distinguish phyllodes tumor from fibroadenoma; therefore, histological examination is mandatory for diagnosis. Histology also allows the classification of phyllodes tumor into benign, borderline, or malignant types for appropriate surgical treatment: freemargin excision in benign tumors and mastectomy in the other two types. Fortunately, the majority of these tumors are benign, and treatment maximizes breast conservation with free infiltration margins surgery, given that this fact is the most important factor to prevent local recurrence. In this article, we describe a rare case of borderline cystosarcoma phyllodes in a 12-year-old girl.

[Prognostic value of ERBB2 amplification and protein expression in small cell lung cancer]. / Valor pronóstico de la expresión y amplificación genética de c-erbB-2 en el carcinoma microcítico de pulmón.

OBJECTIVE: Our objective was to evaluate ERBB2 oncogene amplification using fluorescence in situ hybridization (FISH) and protein overexpression using immunohistochemical techniques, and to explore their possible prognostic value in a series of patients with small cell carcinoma. PATIENTS AND METHODS: Included in the study were 99 patients with small cell tumors, classified in 2 broad groups: patients with limited locally advanced disease and patients with disseminated disease. Material for study was obtained in 97% of the cases (96/99) by means of endoscopic biopsy and by tomography-guided needle biopsy in the remaining 3% (3/99). Survival was analyzed using the Kaplan-Meier method. RESULTS: The 92 men (92.9%) and 7 women (7.1%) in the study had a mean (SD) age of 62.9 (10.4) years (range, 36-81 years); 39.4% (n=39) and 60.6% (n=60) of the subjects had limited and disseminated disease, respectively. ERBB2 protein overexpression was observed in 26.3% of the patients (n=26), 15.4% (n=4) of whom had limited disease and 84.6% (n=22) of whom had disseminated disease (P=.005). Although mean survival was slightly longer for patients who were negative for ERBB2 protein overexpression, the difference was not statistically significant. FISH identified gene amplification in 6.3% (1 in 16) of the studied cases (ratio, 2.3). CONCLUSIONS: The protein product of the ERBB2 oncogene is overexpressed in 33.3% of small cell lung carcinomas and is associated with the presence of disseminated disease. Further studies are necessary to evaluate the possible benefits of specific treatment.

Valor pronóstico de la expresión y amplificación genética de c-erbB-2 en el carcinoma microcítico de pulmón / Prognostic value of ERBB2 amplification and protein expression in small cell lung cancer

Objetivo: El propósito de nuestro estudio ha sido evaluar la sobreexpresión proteica de c-erbB-2 mediante técnicas de inmunohistoquímica y la amplificación del oncogén mediante hibridación in situ fluorescente, en una serie de carcinomas microcíticos, correlacionándola con las posibles implicaciones pronósticas. Pacientes y métodos: Se incluyó a 99 pacientes con tumores microcíticos clasificados en 2 grandes grupos: enfermedad limitada o localmente avanzada y enfermedad diseminada. El material para estudio se obtuvo mediante biopsia endoscópica en el 97% de los casos (96/99) o mediante punción guiada por tomografía computarizada en el 3% restante (3/99). La supervivencia se analizó con el método de Kaplan-Meier. Resultados: La media de edad ± desviación estándar de los pacientes fue de 62,9 ± 10,4 años (rango: 36-81). El 92,9% (n = 92) eran varones y el 7,1% mujeres (n = 7). Un 39,4% (n = 39) presentaba enfermedad limitada y el 60,6% (n = 60) enfermedad diseminada. La sobreexpresión proteica de c-erbB-2 se observó en el 26,3% de los casos (n = 26), de los cuales un 15,4% (n = 4) presentaba enfermedad limitada y el 84,6% restante (n = 22) enfermedad diseminada (p = 0,005). La media de supervivencia fue ligeramente mayor para los pacientes con c-erbB-2 negativo que en aquéllos con c-erbB-2 positivo, pero esta diferencia no fue estadísticamente significativa. La técnica de hibridación in situ fluorescente mostró amplificación génica en el 6,3% (1/16) de los casos estudiados, con un índice de 2,3. Conclusiones: El producto proteico del oncogén c-erbB-2 se sobreexpresa en un 33,3% de los carcinomas microcíticos pulmonares y se asocia a la presencia de enfermedad diseminada. Son necesarios nuevos estudios para evaluar el posible beneficio del tratamiento específico

Objective: Our objective was to evaluate ERBB2 oncogene amplification using fluorescence in situ hybridization (FISH) and protein overexpression using immunohistochemical techniques, and to explore their possible prognostic value in a series of patients with small cell carcinoma. Patients and methods: Included in the study were 99 patients with small cell tumors, classified in 2 broad groups: patients with limited locally advanced disease and patients with disseminated disease. Material for study was obtained in 97% of the cases (96/99) by means of endoscopic biopsy and by tomography-guided needle biopsy in the remaining 3% (3/99). Survival was analyzed using the Kaplan-Meier method. Results: The 92 men (92.9%) and 7 women (7.1%) in the study had a mean (SD) age of 62.9 (10.4) years (range, 36-81 years); 39.4% (n=39) and 60.6% (n=60) of the subjects had limited and disseminated disease, respectively. ERBB2 protein overexpression was observed in 26.3% of the patients (n=26), 15.4% (n=4) of whom had limited disease and 84.6% (n=22) of whom had disseminated disease (P=.005). Although mean survival was slightly longer for patients who were negative for ERBB2 protein overexpression, the difference was not statistically significant. FISH identified gene amplification in 6.3% (1 in 16) of the studied cases (ratio, 2.3). Conclusions: The protein product of the ERBB2 oncogene is overexpressed in 33.3% of small cell lung carcinomas and is associated with the presence of disseminated disease. Further studies are necessary to evaluate the possible benefits of specific treatment

Prognostic significance of synaptophysin in stage I of squamous carcinoma and adenocarcinoma of the lung.

BACKGROUND: The prognostic significance of the presence of a neuroendocrine marker (synaptophysin, SY) was analyzed in stage I of squamous carcinoma and adenocarcinoma of the lung. METHODS: A multicentric retrospective study was conducted with immunohistochemical staining in a single center of 318 patients resected for squamous carcinoma or adenocarcinoma in pathologic stage I. RESULTS: In all, 162 cases of squamous carcinoma and 156 cases of adenocarcinoma were identified, which included 105 patients in stage IA (50 patients with squamous carcinoma and 55 patients with adenocarcinoma) and 213 in stage IB (112 with squamous carcinoma and 101 with adenocarcinoma). Eighty-six tumors showed a presence of SY+ (27%). Univariate analysis showed lower survival rates at 5 years for those patients older than 70 years of age compared with those patients younger than 70 years of age (60.35% vs 70.57%; P = .007) and for those patients with SY+ compared with those with SY- (52.48% vs 72.68%; P = .0017). Patients with SY+ tumors showed a higher rate of recurrence than patients with SY- tumors (50% vs 33.6%; P = .008). Multivariate analysis showed that those patients greater that 70 years of age (hazard ratio [HR], 1.74; 95% confidence interval [CI], 1.14-2.65) and the presence of SY (HR, 2.15; 95% CI, 1.40-3.30) were significant independent prognostic factors associated with a poor outcome. CONCLUSIONS: Stage I of squamous carcinoma and adenocarcinoma of the lung with SY+ has a poor prognosis, with a higher frequency of recurrence and lower survival rates.

[Immunohistochemistry and surgical approaches in solitary fibrous tumor of the pleura]. / Inmunohistoquímica y vías de abordaje en el tumor fibroso pleural.

Solitary fibrous tumor of the pleura (SFTP) is a rare, benign, slow-growing neoplasm that arises from the submesothelial cells of the pleura. Usually, resection of the tumor and adjacent structures are sufficient for resolution. Nowadays, videothoracoscopy (VTC) allows adequate access for the surgical treatment of these tumors. CD34 antigen positivity is a differential feature with mesothelioma. We present our experience with 15 patients with SFTP (nine women and six men) who underwent surgical resection in the last 12 years (10 thoracotomies, one sternotomy and four VTC). Only four patients were symptomatic at diagnosis. In our opinion, VTC is a less invasive diagnostic and therapeutic approach than thoracotomy that provides an adequate approach for the resection of SFTP in selected patients. Because of the malignant potential of this tumor, long-term follow-up is mandatory.

Inmunohistoquímica y vías de abordaje en el tumor fibroso pleural / Inmunohistochemistry and surgical approaches in solitary fibrous tumor of the pleura

El tumor fibroso pleural (TFP) es una neoplasia benigna poco frecuente, de crecimiento lento, que se origina a partir de las células submesoteliales de la pleura. Habitualmente, la resección del tumor y de las estructuras adyacentes, si están afectadas, suele ser suficiente para su resolución. Actualmente, la videotoracoscopia (VTC) permite un acceso adecuado para el tratamiento de estos tumores. La positividad para CD34 es un rasgo diferencial con el mesotelioma. Se presentan 15 casos de TFP (9 mujeres y 6 varones) intervenidos en nuestro servicio en los últimos 12 años (10 toracotomías, 1 esternotomía y 4 mediante VTC). Sólo 4 casos presentaron síntomas al diagnóstico. Se plantea la VTC como un método diagnóstico y terapéutico, menos invasivo que la toracotomía, que permite un abordaje adecuado para la resección del TFP, en casos seleccionados. El seguimiento a largo plazo es obligado, dado su potencial maligno (AU)

Solitary fibrous tumor of the pleura (SFTP) is a rare, benign, slow-growing neoplasm that arises from the submesothelial cells of the pleura. Usually, resection of the tumor and adjacent structures are sufficient for resolution. Nowadays, videothoracoscopy (VTC) allows adequate access for the surgical treatment of these tumors. CD34 antigen positivity is a differential feature with mesothelioma. We present our experience with 15 patients with SFTP (nine women and six men) who underwent surgical resection in the last 12 years (10 thoracotomies, one sternotomy and four VTC). Only four patients were symptomatic at diagnosis. In our opinion, VTC is a less invasive diagnostic and therapeutic approach than thoracotomy that provides an adequate approach for the resection of SFTP in selected patients. Because of the malignant potential of this tumor, long-term follow-up is mandatory (AU)

Esclerosis tuberosa. Informe de un caso / Tuberous sclerosis: report of a case

Introducción: La Esclerosis Tuberosa (ET) es un síndrome caracterizado por la formación de hamartomas y tumores en diferentes órganos del cuerpo. La morbimortalidad de esta enfermedad dependerá por lo tanto del órgano involucrado, el tamaño y localización de las lesiones. Paciente y métodos: Presentamos el caso de una mujer de 42 años quien murió por complicaciones de este síndrome Hospital General de México. Se presentan los hallazgos de autopsia

Introduction: Tuberous Sclerosis is a syndrome characterized by the presence of benign tumors (hamartomas) in multiple organs. Mortality and morbidity keep a close relationship with the location, size, and organs affected by the lesions. Patient and methods: A case of a 40 old women, who died by complications of this syndrome is reported. Autopsy findings are described