Publications by authors named "Javier A Laurini"

• gene amplification occurs in 7% of uterine carcinosarcoma.•The presence of gene amplification in recurrent uterine carcinosarcoma may be targeted by aromatase inhibitors.• gene amplification may be identified through immunohistochemical staining for estrogen receptor followed by fluorescence in situ hybridization or tumor targeted gene sequencing.

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Precision oncology research seeks to derive knowledge from existing data. Current work seeks to integrate clinical and genomic data across cancer centers to enable impactful secondary use. However, integrated data reliability depends on the data curation method used and its systematicity.

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Background: Exosomes are important mediators of intercellular communications and play pivotal roles in cancer progression, metastasis and chemoresistance. CD63 and CD9 are widely accepted exosomal markers. In patients with pancreatic ductal adenocarcinoma (PDAC), positive correlation between CD9 expression and overall survival (OS) was reported.

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Background: The correlation between DPYD*9A (c.85T>C) genotype and dihydropyrimidine dehydrogenase (DPD) deficiency clinical phenotype is controversial. Reference laboratories either did not perform DPYD*9A genotyping or have stopped DPYD*9A genotyping and limited genotyping to high-risk variants (DPYD*2A, DPYD*13 and DPYD*9B) only.

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The World Health Organization classification of lymphoma recommends the subdivision of follicular lymphoma (FL) into 3 grades (FL1-3) based on the average number of centroblasts per high-power field in the neoplastic follicles, but does not recognize a form of FL characterized by a predominance of large cleaved cells (centrocytes) without enough centroblasts to meet the World Health Organization criteria for FL3. We have classified such cases as follicular large cleaved cell lymphoma (FLC) and, herein, describe the pathologic and clinical features of 72 cases of this entity. The features of FLC include a follicular growth pattern with pale follicles at low magnification and frequent follicular and/or interfollicular fibrosis.

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Objectives: Exosomes are important mediators in intercellular communications and play a role in cancer progression and metastasis. Exosomal membranes are enriched in endosome-specific tetraspanins (CD9 and CD63). Here, we explored the expression of CD63 and CD9 utilizing immunohistochemistry in malignant and nonmalignant cells in 29 resected pancreatic specimens (RPSs) of mixed racial background.

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Smooth muscle myosin heavy chain (SMMHC) is a major structural component of the contractile apparatus in smooth muscle cells. Even though it is considered a relatively specific marker for terminal smooth muscle cell differentiation, expression in other cell types such as follicular dendritic cells (FDCs) has rarely been reported. To determine whether SMMHC represents an effective FDC marker in lymphoid tissues, we compared the immunohistochemical results for SMMHC with those of the traditional FDC markers podoplanin (D2-40) and CD21.

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Few studies have examined the value of a mandatory second review of outside pathology material for haematological malignancies. Therefore, we compared diagnoses on biopsies referred to an academic medical centre to determine the rate and therapeutic impact of revised diagnoses resulting from a second review. We reviewed 1010 cases referred for lymphoma during 2009-2010.

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Rosai-Dorfman disease (RDD), also known as "sinus histiocytosis with massive lymphadenopathy," only rarely involves the gastrointestinal (GI) tract. Therefore, this unusual site of presentation can be challenging for the pathologist. We present a case of RDD manifesting as a rectal submucosal mass associated with rectal bleeding in a 54 year old woman.

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Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease and "double-hit" DLBCL, with both MYC and BCL2 translocations has a poor prognosis. In this study, we investigated whether MYC and BCL2 protein expression in tissue would predict survival in DLBCL. The study included 106 cases of de novo DLBCL treated with rituximab and cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) or CHOP-like regimens.

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The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. However, many uncommon subtypes of lymphoma have not been studied.

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The distribution of non-Hodgkin lymphoma (NHL) subtypes differs around the world but a systematic study of Latin America has not been done. Therefore, we evaluated the relative frequencies of NHL subtypes in Central and South America (CSA). Five expert hematopathologists classified consecutive cases of NHL from 5 CSA countries using the WHO classification and compared them to 400 cases from North America (NA).

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Gout is a painful inflammatory arthropathy caused by crystallization of monosodium urate within the joints. We present the case of a patient with primary gout who had positive results of joint aspiration and synovial biopsy for monosodium urate crystals in the third metacarpophalangeal joint but false-negative results of dual-energy computed tomography.

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Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor that typically involves the deep soft tissues of the extremities. However, LGFMS has been described in other locations including the head and neck, retroperitoneum, and mesentery. Translocations involving the FUS gene located at 16p are considered to be highly specific for the diagnosis of this tumor when present in conjunction with the appropriate morphologic appearance.

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Gastrointestinal stromal tumors are mesenchymal neoplasms with a spectrum of histologic appearances and biologic activity. The morphologic classification of these lesions has evolved over time, and molecular analysis has led to a better understanding of their nature. The histologic differential diagnosis for these lesions is broad and includes many spindle cell lesions of the gastrointestinal tract, including neoplasms of true smooth muscle and neural origin, proliferating fibrous lesions, metastatic neoplasms, and primary sarcomas of vascular and adipose origin.

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We report a case of native valve and pacemaker endocarditis in a 78-year-old male with diabetes mellitus who died after cardiac surgery. At autopsy, tricuspid valve vegetations and lung abscesses containing thick, hyaline, septate, and branching hyphae were present. The culture identified Scedosporium apiospermum, an infrequent cause of opportunistic infections in immunocompromised hosts.

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Gastrointestinal tract involvement by neurofibromatous lesions is rare and occurs most frequently as one of the systemic manifestations of generalized neurofibromatosis type 1 (NF1). In this setting, the lesions may manifest as focal scattered neurofibromas or as an extensive diffuse neural hyperplasia designated ganglioneuromatosis. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease.

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In pediatric patients, Kluyvera spp. has emerged as a cause of disease ranging from soft tissue infections to sepsis with multiorgan failure. Successful treatment options include third-generation cephalosporins, tetracycline, aminoglycosides, and fluoroquinolones, but resistance to first- and second-generation cephalosporins persists.

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Candida parapsilosis is an extremely rare cause of meningitis. We report the case of a neonate born at 26+4 weeks of gestation who was admitted to the neonatal intensive care unit at our institution due to respiratory immaturity. During the course of a 3-month hospitalization, the neonate developed fever and lethargy.

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