ABSTRACT
La displasia frontometafisaria 2 (DFM2) es una enfermedad rara causada por una mutación en el gen MAP3K7. En este artículo, se informa sobre un paciente de 7 años con DFM2 causada por una variante nueva de corte y empalme en MAP3K7. El paciente presenta las características frecuentes de la DFM2, pero algunas nunca antes informadas. No se dispone de una descripción sistemática de las características de las imágenes tomográficas de la DFM2. Describimos ciertas diferencias en las características de la DFM2, la bibliografía publicada y las manifestaciones imagenológicas generales de la DFM2. Este caso resalta la importancia del valor clínico de la tomografía computada (TC) y la renderización de volúmenes (VR) en el diagnóstico de la DFM2. Las características de la DFM2 pueden observarse claramente en los estudios tomográficos, lo que señala la gran importancia de la TC para el diagnóstico y el tratamiento precoces de los pacientes con DFM2.
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. We report a 7-year-old sporadic patient with FMD2 due to a de novo splicing variant in MAP3K7. He has the common characteristics of FMD2 but also has some characteristics that have never been reported, which increases the clinical phenotype of FMD2. Moreover, no systematic description of the imaging characteristics of FMD2 in computed tomography (CT) is available. In the present work, we found some different features of FMD2, reviewed previous literature, and summarized the general imaging manifestations of FMD2. This case emphasizes the important clinical value of CT and VR in the diagnosis of FMD2. We can clearly find the characteristics of FMD2 by CT examination, indicating its great significance for the prompt diagnosis and treatment of FMD2 patients.
Subject(s)
Humans , Male , Child , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Pulmonary Arterial Hypertension , Phenotype , ForeheadABSTRACT
Although stomach cancer immunohistochemistry is similar tothe immunohistochemistry of other organ, it has great impact on diagnosis and treatment, such as its ability to reveal whether the cancer is primary or metastatic and which treatment model would be more effective in individual case. Lately, CK7, CK20 and CDX-2 immunohistochemical markers are commonly used in stomach cancers. Stomach cancer prognosis is different in each patient, depending on several factors, patients’ health status, cancer cell differentiation, and cancer cell growth. To evaluate these factors,immunohistochemic al analysis is more effective and for this purpose they use Ki-67, CD 34, BCL-2, p53, Cyclin D1, andHer- 2 markers.The evaluation of HER-2 expression should be carefully carried out, as following: 1. HER-2 expression should be evaluated on minimum 5 positive stained cells. The evaluation criteria aremicroscopic magnification and cytoplasmic membrane-stained pattern. 2. Other than the membrane-stained pattern must be excluded. HER2 gene evaluation (FISH) can confirm the HER2 IHCexpression. 3. Usage of FDA approved antibody (4B5) has the advantageof increased sensitivity. 4. The algorithm for the evaluation of HER-2 expression used for breast cancer has 50% possibility of false negativity if it is used for stomach cancer. Therefore, it is needed to beevaluated with another specific algorithm. Because HER-2 2+ and 3+ cases can improve outcome with usingTrastizumab treatment.