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Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology

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https://read.qxmd.com/read/30650417/no-evidence-of-microsatellite-instability-and-loss-of-mismatch-repair-protein-expression-in-squamous-cell-carcinoma-of-the-penis
#1
Robert Stoehr, Olaf Wendler, Johannes Giedl, Nadine T Gaisa, Georg Richter, Valentina Campean, Maximilian Burger, Bernd Wullich, Simone Bertz, Arndt Hartmann
OBJECTIVE: Microsatellite instability (MSI) and a defective mismatch repair (MMR) system were described as beneficial tumor features for response to immune checkpoint therapy (PD-1 blockade). Meanwhile, the FDA approved PD-1/PD-L1 inhibition treatment for any solid tumor showing MSI and/or defects in the MMR system. For squamous cell carcinoma (SCC) of the penis, no data on the frequency of MSI and altered MMR protein expression are available to date. Therefore, we investigated the MSI status and the expression of MMR proteins in a large cohort of penile SCCs...
January 16, 2019: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30630164/three-novel-men1-variants-in-aip-negative-familial-isolated-pituitary-adenoma-patients
#2
Sema Yarman, Feyza Nur Tuncer, Esin Serbest
OBJECTIVES: Pituitary adenomas (PAs) may rarely occur in well-defined hereditary conditions, like multiple endocrine neoplasia type 1 (MEN1) syndrome and familial isolated pituitary adenoma (FIPA) associated with germline mutations in MEN1 and AIP, respectively. This study aimed to assess MEN1 genetic abnormalities in AIP mutation-negative FIPA patients, not associated with MEN1 components. METHODS: Among 20 patients evaluated in 13 FIPA families, 12 were previously reported as AIP mutation-negative...
January 10, 2019: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30625481/rapidly-and-slowly-growing-lineages-in-chromosomal-instability-type-gland-forming-gastric-carcinomas-as-revealed-by-multisampling-analysis-of-dna-copy-number-profile
#3
Tu Thanh Duong, Diem Thi-Ngoc Vo, Takahisa Nakayama, Ken-Ichi Mukaisho, Masamichi Bamba, Trung Sao Nguyen, Hiroyuki Sugihara
BACKGROUND: To examine whether gastric carcinoma (GC) with chromosomal instability (CIN-type GC), the largest category in the Cancer Genome Atlas classification, consists of a single genetic lineage, we conducted a multisampling analysis of genomic DNA copy-number profile. METHODS: We performed array-based comparative genomic hybridization using formalin-fixed paraffin-embedded tissues from 54 gland-forming GCs containing a total of 106 DNA samples from mucosal, extramucosal invasive, and lymph node lesions...
January 9, 2019: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30476920/advances-in-bone-marrow-diagnostics-of-patients-with-cytopenia
#4
EDITORIAL
Anna Porwit, Bogna Ziarkiewicz-Wroblewska
No abstract text is available yet for this article.
November 26, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/29961056/the-diagnostic-work-up-of-hypereosinophilia
#5
REVIEW
Sa A Wang
Hypereosinophilia (HE) is defined as a persistent elevated eosinophil count of ≥1.5 × 109/L. HE can be one of the dominant manifestations of a hematopoietic myeloid neoplasm or secondary/reactive to an underlying medical condition. If a cause of HE and its associated tissue/organ damage is not determined, the condition is considered to be idiopathic hypereosinophilic syndrome (HES). The work-up of HE can be challenging due to a broad range of causes of HE that can be either reactive or neoplastic. In recent years, with the advent of molecular genetic testing and the introduction of targeted therapy in the management of these patients, there is a growing interest in better characterization of these diseases...
2019: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30423570/extramedullary-haematopoiesis-in-axillary-lymph-nodes-of-breast-carcinoma-patients-receiving-neoadjuvant-chemotherapy-a-potential-diagnostic-pitfall
#6
Nahla M Badr, Claudia Roberts, Abeer M Shaaban
Extramedullary haematopoiesis (EMH) in the axillary lymph node of breast cancer patients is extremely rare but when encountered can represent a diagnostic challenge. We aim to highlight this incidental finding as a diagnostic pitfall which can be mistaken for metastatic carcinoma (particularly of the metaplastic type). We report the case of a 68-year-old Caucasian female with a family history of cancer. Core biopsy revealed that she had grade II oestrogen receptor-negative, Her2-positive invasive ductal carcinoma...
November 13, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30408778/exosomes-from-thymic-stromal-lymphopoietin-activated-dendritic-cells-promote-th2-differentiation-through-the-ox40-ligand
#7
Li Huang, Xinxing Zhang, Meijuan Wang, Zhengrong Chen, Yongdong Yan, Wenjing Gu, Jiahong Tan, Wujun Jiang, Wei Ji
OBJECTIVES: Exosomes are extracellular vesicles released from various inflammatory cells, such as T cells, B cells, dendritic cells (DCs), and mast cells, which have been implicated in the modulation of immune response in asthma. This study aimed to investigate whether exosomes from DCs activated by thymic stromal lymphopoietin (TSLP) play a role in T-helper cell differentiation through the OX40 ligand (OX40L). METHODS: Serum samples from patients with asthma were collected to measure the levels of OX40L, T-helper type 1 (Th1) cytokine interferon (IFN)-γ, and T-helper type 2 (Th2) cytokine interleukin (IL)-4 by enzyme-linked immunosorbent assay (ELISA)...
November 8, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30404093/effect-of-hawthorn-leaf-flavonoids-in-dehydroepiandrosterone-induced-polycystic-ovary-syndrome-in-rats
#8
Yanhua Shi, Xiang Kong, Hongmei Yin, Wentong Zhang, Wei Wang
OBJECTIVE: To evaluate the potential beneficial effects of hawthorn leaf flavonoids (HLF) against polycystic ovary syndrome (PCOS) in a rat model of disease and elucidate the underlying molecular mechanism. METHODS: The PCOS model was established by subcutaneous injection of dehydroepiandrosterone (DHEA, 60 mg/kg/day) for 21 consecutive days. HLF (200 mg/kg/day) were orally administered simultaneously or after the injection. The body weight was regularly monitored and recorded...
November 7, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30396184/runx1-mutations-can-lead-to-aberrant-expression-of-cd79a-and-pax5-in-acute-myelogenous-leukemias-a-potential-diagnostic-pitfall
#9
Thomas Menter, Pontus Lundberg, Friedel Wenzel, Jan Dirks, Paula Fernandez, Dorothea Friess, Stefan Dirnhofer, Alexandar Tzankov
BACKGROUND: RUNX1 is a crucial transcription factor for hematological stem cells and well-known for its association with acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML). Besides the translocation t(8; 21) that leads to the RUNX1-RUNX1T1 fusion, somatic mutations of RUNX1 have been discovered. METHODS: Four bone marrow trephine biopsies of patients with CD79a-positive and/or PAX5-positive acute leukemias were investigated by immunohistochemistry (IHC), karyotyping, and next-generation sequencing-based genetic analysis...
November 5, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30347405/the-american-joint-commission-cancer-8th-edition-prognostic-stage-including-oncotype-dx%C3%A2-recurrence-score-impact-on-staging-of-early-breast-cancer
#10
Roisin O'Cearbhaill, John M Gannon, Ruth S Prichard, Janice M Walshe, Enda McDermott, Cecily M Quinn
BACKGROUND: The American Joint Commission Cancer (AJCC) Cancer Staging Manual 8th edition introduced a breast cancer (BC) Prognostic Stage (PS) that combines tumour grade, oestrogen (ER), progesterone (PgR), and human epidermal growth factor-2 (HER2) receptor status with Anatomic TNM Stage (AS). In a further modification, patients with early BC and an Oncotype DX® Recurrence Score (RS) < 11 are assigned to PS 1A irrespective of grade and size up to 5 cm. This study profiles the impact of these changes on staging in patients with early BC and RS < 11...
October 22, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30332671/progression-potential-of-ductal-carcinoma-in-situ-assessed-by-genomic-copy-number-profiling
#11
Mina Kitamura, Takahisa Nakayama, Ken-Ichi Mukaisho, Tsuyoshi Mori, Tomoko Umeda, Suzuko Moritani, Ryoji Kushima, Masaji Tani, Hiroyuki Sugihara
BACKGROUND: Ductal carcinoma in situ (DCIS) of the breast is heterogeneous in terms of the risk of progression to invasive ductal carcinoma (IDC). To treat DCIS appropriately for its progression risk, we classified individual DCIS by its profile of genomic changes into 2 groups and correlated them with clinicopathological progression factors. METHODS: We used surgically resected, formalin-fixed, paraffin-embedded tissues of 22 DCIS and 30 IDC lesions. We performed immunohistochemical intrinsic subtyping, array-based comparative genomic hybridization, and unsupervised clustering...
October 17, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30308500/breast-tumours-resembling-the-tall-cell-variant-of-thyroid-papillary-carcinoma-are-they-part-of-the-papillary-carcinoma-spectrum-or-a-distinct-entity
#12
Michael S Toss, Kim Billingham, Isioma U Egbuniwe, Filipa Moreno, Areeg Abass, Emad A Rakha
BACKGROUND: Papillary tumours of the breast are diagnostically challenging lesions and represent a wide spectrum of diseases from papilloma to invasive papillary carcinoma. A rare subtype of breast papillary tumour resembling the tall cell variant of thyroid papillary carcinoma (BTRTPC) has been described. The nomenclature of this entity, its relationship to other papillary tumours, and its nature, whether in situ or invasive, remain unclear. METHODS: Seventy-five papillary carcinomas (PCs) of the breast previously diagnosed in routine practice were reviewed and the presence of features (n = 10) characteristic of BTRTPC were assessed to determine whether BTRTPC comprises a distinct entity or is part of the spectrum of the previously defined PC variants...
October 11, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30227408/clinical-implication-of-multi-parameter-flow-cytometry-in-myelodysplastic-syndromes
#13
REVIEW
Carolien Duetz, Theresia M Westers, Arjan A van de Loosdrecht
Myelodysplastic syndromes (MDS) are a challenging group of diseases for clinicians and researchers, as both disease course and pathobiology are highly heterogeneous. In (suspected) MDS patients, multi-parameter flow cytometry can aid in establishing diagnosis, risk stratification and choice of therapy. This review addresses the developments and future directions of multi-parameter flow cytometry scores in MDS. Additionally, we propose an integrated diagnostic algorithm for suspected MDS.
September 18, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30048985/myeloid-neoplasms-with-germline-predisposition
#14
REVIEW
Julia T Geyer
The updated 2016 WHO classification of hematopoietic tumors has a new category: "myeloid neoplasms with germline predisposition." These entities are rare, but are also currently underdiagnosed and underreported. Recognition is critical for appropriate clinical evaluation and therapy, with potential implications for the patient's entire family. The WHO includes 3 categories of myeloid neoplasms with germline predisposition: neoplasms without preexisting conditions, neoplasms with a history of thrombocytopenia, and neoplasms with other organ dysfunction...
July 26, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30041243/myelodysplastic-syndrome-updated
#15
REVIEW
Robert P Hasserjian
This review highlights the main changes in the revised 2016 WHO Classification of Myeloid Neoplasms (published in 2017) that impact the diagnosis and management of patients with myelodysplastic syndrome (MDS). The revision was based on data accumulated since the 2008 WHO classification of MDS, much of which relates to new molecular genetic information about these neoplasms. The new information has led to some reorganization of the MDS disease categories, including a broadening of the subset of cases classified as MDS with ring sideroblasts, many of which have mutations in the spliceosome gene SF3B1...
July 24, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/29982244/challenges-in-diagnosing-myelodysplastic-syndromes-in-the-era-of-genetic-testing-proceedings-of-the-13th-workshop-of-the-european-bone-marrow-working-group
#16
Konnie M Hebeda, Alexandar Tzankov, Ludmila Boudova, Leonie Saft, Rob P Hasserjian, Mirthe de Boer, Falko Fend, Attilio Orazi, Roos Leguit
The 13th workshop of the European Bone Marrow Working Group in Utrecht, The Netherlands, was devoted to studying myelodysplastic syndromes (MDS) and their boundaries. The panel received 44 cases submitted to the 3 invited categories, which included: reactive cytopenias with dysplasia, idiopathic cytopenia of undetermined significance, clonal haematopoiesis of indeterminate potential, idiopathic dysplasia of uncertain significance and overt MDS. For this summary, we have selected 17 cases that highlight difficulties in separating true MDS from other causes of cytopenia and the intricate relationship between clonal haematopoiesis and true MDS...
July 6, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/29860246/icus-idus-chip-and-ccus-diagnostic-criteria-separation-from-mds-and-clinical-implications
#17
Peter Valent
Various myeloid neoplasms, including the myelodysplastic syndromes (MDS), bear a certain risk of progression to secondary acute myeloid leukemia (sAML). The evolution from low-risk to high-risk MDS and finally to sAML suggests that leukemogenesis is a multistep process. However, even before an overt neoplasm, such as an MDS, develops, "prediagnostic" clonal conditions may be identified. With the advent of large-scale genomic screens, such conditions may be detected quite frequently and early in apparently healthy individuals...
June 1, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/29791902/the-molecular-pathology-of-myelodysplastic-syndrome
#18
Torsten Haferlach
The diagnosis and classification of myelodysplastic syndromes (MDS) are based on cytomorphology and cytogenetics (WHO classification). Prognosis is best defined by the Revised International Prognostic Scoring System (IPSS-R). In recent years, an increasing number of molecular aberrations have been discovered. They are already included in the classification (e.g., SF3B1) and, more importantly, have emerged as valuable markers for better classification, particularly for defining risk groups. Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30278467/resistance-to-fas-mediated-apoptosis-does-not-correlate-to-structural-alterations-or-expression-changes-of-the-death-receptor-in-papillary-thyroid-carcinomas
#19
Angelica A Saetta, Andreas C Lazaris, Maria Miaouli, Gerassimos E Voutsinas, Efstratios Patsouris, Sofia Tseleni-Balafouta
BACKGROUND: Malignant cells exhibit significant resistance to FAS-mediated cell death, through different processes, including FAS mutations, soluble FAS expression, or FAS transcriptional dysregulation by P53, eventually escaping from immune surveillance. Since thyroid carcinomas were shown to be resistant to FAS-mediated apoptosis, we investigated the above mechanisms in thyroid carcinoma samples. METHODS: Thirty-seven thyroid carcinoma samples were analyzed for mutations in FAS exon 9 and TP53 exons 5-8 and protein expression by means of immunohistochemistry...
2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://read.qxmd.com/read/30227407/early-loss-of-forkhead-transcription-factor-o-subgroup-member-1-protein-in-the-development-of-pancreatic-ductal-adenocarcinoma
#20
Wael Al-Zoughbi, Silvia Schauer, Martin Pichler, Gerald Hoefler
OBJECTIVES: Forkhead transcription factor, O subgroup, member 1 (FOXO1) is a regulatory protein that plays an essential role in cellular homeostasis. A biological function as a tumor suppressor has been proposed. Here, we examined FOXO1 expression in human pancreatic ductal adenocarcinoma (PDAC) and its precursor lesions. METHODS: We immunohistochemically labeled tissue samples from 47 patients with PDAC for FOXO1 protein. In addition, we extracted data from the Cancer Genome Atlas and the Cancer Cell Line Encyclopedia and studied a potential association with well-established genetic variants...
2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
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