Publications by authors named "Carlos E Bacchi"

Article Synopsis
  • Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
  • Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
  • Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
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  • A study investigates a rare type of cholangiocarcinoma (CCA) with atypical histological features and adenofibromatous lesions, focusing on 8 biliary tumors.
  • The tumors exhibited a unique tubulocystic structure reminiscent of certain kidney cancers and were mostly found in older males and females, with a mean size of 4.4 cm and notable histological characteristics, including perineural invasion in one case.
  • Genetic analysis revealed shared mutations in chromatin remodeling genes and an actionable fusion gene, leading to the proposal of a new classification termed "tubulocystic carcinoma of bile ducts."
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Schwannomas commonly develop in the cervical region, 25% - 45% of cases are diagnosed in this anatomical region. Tracheal neurogenic tumors are exceedingly rare and can be misdiagnosed as invasive thyroid carcinomas or other infiltrating malignancies when present at the level of the thyroid gland. Here, we present a case of synchronous benign cervical schwannoma with tracheal invasion and papillary thyroid carcinoma in a patient who was initially hospitalized for COVID-19.

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DNA mismatch repair protein deficiency (MMRd) in endometrial carcinoma is associated with the risk of Lynch syndrome and response to immune checkpoint inhibitors. It is also related to microsatellite instability and corresponds to a molecular subtype of endometrial tumor with an unclear prognosis. Here, we evaluated the clinicopathological characteristics and prognosis of 312 consecutive endometrial carcinoma cases submitted to complete surgical staging at a single institution.

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  • The study investigates how breast cancer molecular subtypes vary among Brazilian women based on their genetic ancestry and ethnicity, identifying distinct differences across different regions of Brazil.
  • 1127 breast cancer patients were analyzed, revealing that those in the South had higher European ancestry and were more likely to have HER-2 luminal tumors, while those in the North and Northeast had higher African ancestry and more aggressive triple-negative tumors.
  • The findings underscore the importance of genetic ancestry and ethnicity in understanding breast cancer characteristics, which could enhance early diagnosis and treatment strategies in Brazil.*
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A woman in her 50s presented with a rounded and hypervascular lesion in the right internal iliac lymph node chain, contacting with small branches of the anterior division of the internal iliac artery. Since the lesion matched the blood arterial pool in CT and the patient exhibited multiple vascular abnormalities that suggested segmental arterial mediolysis, a pseudoaneurysm hypothesis was initially made. Arteriography was realised due to the intention for embolisation of the pseudoaneurysm, but the dynamic behaviour during the exam suggested a hypervascular tumour more.

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Aleukemic leukemia cutis (ALC) is a rare condition that is characterized by leukemic cells in the skin before presenting in the peripheral blood or bone marrow. We report a case of a 43-year-old woman who underwent assessment for bilateral facial nodules arising 1 month after COVID-19 infection. A punch biopsy specimen showed a malignant neoplasm primarily composed of immature blasts dissecting through the collagen in the dermis, concerning for myeloid sarcoma versus leukemia cutis.

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Background: BRCA1-associated protein 1 (BAP-1) is a deubiquitylase that functions as a tumor suppressor, regulating multiple cellular processes including cell cycle control, differentiation, cell death, and DNA repair. BAP-1-inactivated melanocytic tumors (BIMTs) have recently been described and are characterized by epithelioid cytomorphology, are often clonal in appearance, and typically do not recur or show malignant transformation on follow-up.

Aim: To describe the histopathologic and molecular characterization of five cases of BAP-1-inactivated cutaneous malignant melanomas.

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The archetypal solitary fibrous tumor (SFT) features fibroblastic cells with varying cellularity without any particular architectural arrangement in a collagenous matrix, with staghorn vessels, CD34 and STAT6 expression, and NAB2::STAT6. To date, this fusion is thought to be specific for SFT. With more routine use of fusion gene panels, the histologic diversity of NAB2::STAT6-positive tumors is increasingly appreciated.

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Mesotheliomas of the tunica vaginalis testis are very uncommon tumors, with rare cases published in the literature. This report demonstrates a case in with such a tumor was diagnosed in a 50-year-old man who presented to the emergency room with mild, acute scrotal pain and swelling, without previously known scrotal pathology. It is noted that sonographers should be aware of the typical characteristics that allow for suspecting malignancy in scrotal sonography performed in the emergency setting; this was particularly important in this case.

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Mediastinal fat necrosis is an important differential diagnosis for acute chest pain in previously healthy patients. Imaging examination is essential to establish this diagnosis, as physical examination can be unhelpful and laboratory tests are non-specific. The treatment of choice is conservative, with non-steroidal anti-inflammatory drugs; surgery is reserved for a few selected cases.

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Background: Cutaneous involvement by classic Hodgkin lymphoma (CHL) is an extraordinarily rare phenomenon in the current era. To date, no single large case series of cutaneous involvement by Hodgkin lymphoma has ever been reported in the literature.

Methods: A comprehensive search for cases designated "skin" and "Hodgkin" was performed at different institutions between 1990 and 2020.

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Purpose: To generate and present the survey results on critical issues relevant to screening, diagnosis, and staging tools for prostate cancer (PCa) focused on developing countries.

Methods: A total of 36 of 300 questions concern the main areas of interest of this paper: (1) screening, (2) diagnosis, and (3) staging for various risk levels of PCa in developing countries. A panel of 99 international multidisciplinary cancer experts voted on these questions to create recommendations for screening, diagnosing, and staging tools for PCa in areas of limited resources discussed in this manuscript.

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Article Synopsis
  • Refractory celiac disease type II (RCD II) is a rare and aggressive disorder linked to T-cell lymphoma, often evolving into more severe forms, and its exact causes remain unclear.
  • Comprehensive genetic and immunophenotypic studies on 11 RCD II cases revealed mutations in key signaling pathways, particularly JAK-STAT, with significant abnormalities noted in epigenetic and immune response genes.
  • The research highlights stable genetic profiles in RCD II over time but identifies new mutations upon progression to enteropathy-associated T-cell lymphoma (EATL), offering insights into potential treatment options and early disease mechanisms.
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It is becoming increasingly important to obtain detailed diagnostic information on small-volume tissue biopsies, such as core needle biopsies. This is particularly crucial in the workup and diagnosis of classic Hodgkin lymphoma (CHL) and other morphologically similar lymphomas such as T-cell/histiocyte-rich large B-cell lymphoma (THRLBL), where small-volume lymph node biopsies often represent the frontline tissue source, and the differential diagnosis includes a reactive process. Immunohistochemical markers could be helpful to differentiate CHL from reactive lymph node changes (RLN) in this setting.

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Pediatric mandibular tumors present an aggressive biological behavior and difficult diagnosis. A wide range of odontogenic and nonodontogenic tumors comprise the spectrum of these lesions. We report a case of a 1-year-old male child patient showing facial asymmetry symptomatic of an expansive lesion extending throughout the body and ramus of the left hemimandible with a diameter of 8 cm.

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Angiomatoid fibrous histiocytoma (AFH) is a rarely metastasizing neoplasm that typically occurs in the deep dermis and subcutis of the extremities of young patients, characterized by a t(2;22) translocation involving EWSR1 and CREB1. Because of its distinctive histologic features, the diagnosis of AFH is generally straightforward, although the immunohistochemistry (IHC) findings are relatively nonspecific. We recently encountered a case of primary cranial AFH that showed strong MUC4 IHC expression, which has not yet been reported previously.

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Mammary analogue secretory carcinoma (MASC) is a relatively recently described salivary gland adenocarcinoma characterized by ETV6-NTRK3 gene fusion and in most cases indolent clinical behavior. The majority of tumors show an admixture of microcystic, solid, and tubular growth patterns but only a few cases with dominant macrocystic growth have been reported. We report 15 cases of macrocystic MASC.

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Deregulation of microRNA expression plays a significant role in several cancer types including Burkitt lymphoma (BL). MicroRNA genes may be regulated through epigenetic mechanisms, such as specific histone modifications and/or DNA methylation of CpG islands in promoter regions, or by regions that are located next to microRNA genes. Given the regulatory role of MYC in miR‑29 expression, methylation as an additional mechanism for miR‑29 silencing was investigated.

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Background: Risk stratification of endometrial carcinomas is primarily based on surgical staging that requires extensive retroperitoneal lymph node dissection. One of the most powerful predictor of lymph node involvement is the lymph vascular space invasion (LVSI). The objective of this study was to determine the potential of L1 Cell Adhesion Molecule (L1CAM) to predict LVSI and its association with other risk factors in endometrioid endometrial carcinomas.

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Background: In Brazil, cancer is the second most common cause of death. Most patients in resource-limited countries are diagnosed in advanced stages. Current guidelines advocate for mutation testing in all patients with metastatic adenocarcinoma.

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Less than 250 extraneuraxial hemangioblastomas occurring in paraneuraxial or peripheral sites have been reported to date, sporadically or in the setting of von Hippel-Lindau disease. Seventeen such cases underwent molecular genetic analysis, using either the patient's peripheral blood in 9 cases or paraffin embedded tumor tissue in the rest. VHL gene mutations were documented in 3/9 cases in which DNA from peripheral blood lymphocytes was used, all with clinically manifest von Hippel-Lindau disease; instead, no VHL gene alterations were found in all of the 8 cases with sporadic extraneuraxial hemangioblastoma in which DNA from tumor tissue was analyzed.

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More than 500 women worldwide have developed a CD30+ T-cell lymphoma around breast implants, strongly suggesting a cause-and-effect relationship, and designated as breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). The mechanism of lymphomagenesis is unknown. Recently, a bacterial biofilm containing gram-negative bacilli was discovered on the surface of breast implants associated with ALCL.

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