Andrés Pérez-Barrios

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Disruption of the Krebs cycle is a hallmark of cancer. IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers. We describe a paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme. Whole-exome sequencing was(More)
Metastatic neoplasms of the breast are rare. Mammary metastases as the initial presentation are even more infrequent and can simulate a primary malignancy clinically and radiologically. Recognition of metastatic tumors in the breast is important because it would prevent unnecessary mutilating surgery and would lead to appropriate treatment of the primary(More)
We report on our experience in fine-needle aspiration (FNA) biopsy of the retroperitoneum: 111 FNA biopsies performed on 99 patients. Cytologic diagnoses were divided into four groups: nondiagnostic (unsatisfactory samples because of a low cellularity and/or improperly prepared smears) aspirates (20%), benign (16%), suspicious for malignancy (13%), and(More)
BACKGROUND Echinococcosis is a troublesome disease, particularly common in sheep-raising communities and usually caused by the cestode Echinococcus granulosus. Although it has been found in almost every organ, isolated cardiac disease is an exceptional presentation since cardiac involvement occurs in only 0.5-3% of echinococcosis cases. CASE A case of(More)
BACKGROUND Skin metastases from hepatocellular carcinoma (HCC) represented only 0.8% of all known cutaneous metastases in a recent large series. The most frequent site appears to be the head, but this fact has received little attention. An accurate cytologic diagnosis is extremely difficult in patients with unknown liver dysfunction. We report the cytologic(More)
In a 14-year-old boy presenting with left facial nerve paralysis, physical examination revealed a soft, round mass in the floor of the left external auditory canal. A fine needle aspiration biopsy was performed to obtain material for light and electron microscopy. Several small groups of uniform, spindle-shaped neoplastic cells were present on the slides; a(More)
The cytologic findings in fine needle aspirates of two solitary pseudorheumatoid nodules are presented. The main characteristic of the smears was a necrotic granular and filamentous background accompanied by a granulomatous inflammatory infiltrate. The differential diagnosis is analyzed. The results in these cases indicate that the diagnosis of a solitary(More)
OBJECTIVE To describe the cytomorphologic findings of chromophobe renal cell carcinoma (CRCC) in order to preoperatively distinguish this rare neoplasm from other primary or secondary tumors arising from the kidney or presenting as retroperitoneal masses. STUDY DESIGN Clinical data, fine needle aspiration (FNA) and follow-up surgical specimens from 4(More)