Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: a case report [PDF]
Paraganglioma (PGL) is a rare neuroendocrine tumor. Currently, the malignancy is defined as the presence of metastatic spread at presentation or during follow-up.
Aschelter, Am +10 more
core +1 more source
Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal
Mastocytosis is a hematologic neoplasm characterized by expansion and focal accumulation of neoplastic mast cells (MC) in diverse organs, including the skin, bone marrow (BM), spleen, liver, and gastrointestinal tract.
Peter Valent +39 more
doaj +1 more source
Evidence for detrimental cross interactions between reactive oxygen and nitrogen species in Leber's hereditary optic neuropathy cells [PDF]
Here we have collected evidence suggesting that chronic changes in the NO homeostasis and the rise of reactive oxygen species bioavailability can contribute to cell dysfunction in Leber’s hereditary optic neuropathy (LHON) patients.We report that ...
Arese, Marzia +12 more
core +4 more sources
Differences in the aggressiveness of familial versus sporadic non-medullary thyroid cancer: An unresolved controversy [PDF]
Objective: Familial non-medullary thyroid cancer (FNMTC) is defined as non-medullary thyroid cancer occurring in two or more first-degree relatives, without features of known hereditary syndromes. Although familial predisposition is well established, its
Fabíola Yukiko Miasaki +5 more
doaj +2 more sources
Analysis of short-term blood pressure variability in pheochromocytoma/paraganglioma patients [PDF]
Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting.
Bisogni, V. +14 more
core +1 more source
El síndrome de Li-Fraumeni se caracteriza por la aparición de tumores en múltiples órganos, generalmente a temprana edad. Esta condición hereditaria es causada por mutaciones germinales en el gen TP53, que codifica el gen supresor tumoral p53.
Carlos Andrés Ossa +2 more
doaj +1 more source
Peliosis hepatis. Personal experience and literature review [PDF]
Peliosis hepatis (PH) is a disease characterized by multiple and small, blood-filled cysts within the parenchymatous organs. PH is a very rare disease, more common in adults, and when it affects the liver, it comes to the surgeon’s attention only in ...
Crocetti, Daniele +5 more
core +1 more source
The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in
Christine Stanislaw +2 more
doaj +1 more source
Does sex of the patient play a role in survival for MSI colorectal cancer? [PDF]
Microsatellite instability (MSI) is a feature of colorectal tumors that develops as a result of inactivation of the DNA mismatch repair system. It is found in about 15% of all colorectal cancers and is an important prognostic molecular marker when ...
Alecu, Lucian +11 more
core +3 more sources
ABSTRACT Purpose Malignant rhabdoid tumor of the kidney (MRTK) is a rare, aggressive tumor seen in young children. The optimal timing of resection for locally advanced tumors is not well‐defined. The purpose of this study is to evaluate modern oncologic outcomes and the impact of surgical timing. Methods A multicenter retrospective review was performed
Hannah N. Rinehardt +76 more
wiley +1 more source

