28 research outputs found
Mixed Neuroendocrine-Non-Neuroendocrine Neoplasms of the Pancreas
No full textPancreatic mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) are rare neoplasms, composed of at least two components. The neuroendocrine part is always present. Histology is the most important tool for the diagnosis, but in the case of MiNEN, it is also important for the use of immunohistochemistry, which should include neuroendocrine but also ductal and acinar markers. Each component should be specifically described in the final pathology report, including the percentage on the entire tumor mass. The prognosis of MiNEN is very heterogeneous and depends on the different tumor components
Axillary Hibernoma in woman with Lobular breast cancer and MEN1 syndrome: A case report
No full textINTRODUCTION: The present study reports the case of an axillary hibernoma in a patient with lobular homolateral breast cancer and multiple endocrine neoplasia typel (MEN-1). Hibernoma is a rare benign adipose tissue tumor, and usually manifests as a slowly growing and painless rubbery mass. These tumors can arise in various sites, but mammary hibernomas remain extraordinarily uncommon. Although hibernomas are metabolically active and therefore "glucose-avid" on fluorodeoxyglucose CT-positron emission tomography (FDG CT-PET), imaging alone is inadequate in providing a reliable diagnosis and definitive differential diagnosis from other malignancy. Only complete surgical excision is diagnostic and, in most cases, curative.PRESENTATION OF CASE: A 42-years-old woman was followed for MEN-1 syndrome associating with hyperparathyroidism, insulinoma, non-secretory adrenal adenoma and thyroid lump. A FDG CT-PET found high glucid hypermetabolism in thickened elongated area on the front axillary line. Hibernoma was diagnosed after realization of prophylactic left mastectomy, homolateral sentinel lymph node biopsy and exeresis of the known axillary lesion.DISCUSSION: Clinical importance lies in distinguishing hibernoma from other benign and malignant breast neoplasms, as well as inflammatory conditions that come into the histologic or radiologic differential. Hibernoma is not currently classified as a non-endocrine tumor related to MEN1, but this association could be not fortuitous for the linkage between modification of Menin protein function and pathogenesis of hibernomas.CONCLUSION: Our case deserves extraordinary attention because, not only it's a case of MEN1 syndrome associated with hibernoma, but in the context of this lesion there are multiple micro-foci of infiltrating lobular carcinoma. (C) 2020 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Exceptional and Durable Responses to TDM-1 After Trastuzumab Failure for Breast Cancer Skin Metastases: Potential Implications of an Immunological Sanctuary
No full textBreast Cancer (BC) skin metastases represent a challenging clinical scenario. Although they usually arise when other distant metastases are already present, they may also represent a form of locoregional recurrence (LRR). Systemic therapy in this setting may have a role both in case a radical locoregional approach is unfeasible in order to achieve disease control, and as adjuvant strategy after radical removal of cutaneous lesions, in order to prevent or delay subsequent disease spread. Systemic therapy for HER2+ metastatic BC (MBC) currently relies on anti-HER2 targeted agents. In this context TDM1 is an option in trastuzumab-resistant patients.Here we present 2 cases of isolated skin metastases in patients with HER2+ BC progressing during or early after trastuzumab-based therapy, showing impressive responses to TDM1. We hypothesize that the unique properties of skin immune microenvironment may explain the failure of trastuzumab, which exerts its action also through immunological mechanisms, and the subsequent outlier responses to TDM1, that relies on a partially different mechanism of action
New insights in gastrointestinal “pediatric” neoplasms in adult patients: pancreatoblastoma, hepatoblastoma and embryonal sarcoma of the liver. A practical approach by GIPPI-GIPAD Groups
No full textPediatric solid neoplasms are rare and very different from those observed in adults. The majority of them are referred to as embryonal because they arise as a result of alterations in the processes of organogenesis or normal growth and are characterized by proliferation of primitive cells, reproducing the corresponding tissue at various stages of embryonic development. This review will focus on embryonal gastrointestinal pediatric neoplasms in adult patients, including pancreatoblastoma, hepatoblastoma, and embryonal sarcoma of the liver. Although they are classically considered pediatric neoplasms, they may (rarely) occur in adult patients. Hepatoblastoma represents the most frequent liver neoplasm in the pediatric population, followed by hepatocellular carcinoma and embryonal sarcoma of the liver; while pancreatoblastoma is the most common malignant pancreatic tumor in childhood. Both in children and adults, the mainstay of treatment is complete surgical resection, either up front or following neoadjuvant chemotherapy. Unresectable and/or metastatic neoplasms may be amenable to complete delayed surgery after neoadjuvant chemotherapy. However, these neoplasms display a more aggressive behavior and overall poorer prognosis in adults than in children, probably because they are diagnosed in later stages of diseases
Ki67/MART1 and p63/SOX10 Dual Immunohistochemistry Allows a Correct Interpretation of the Melanocytic Component in the Diagnosis of Pigmented Pilomatricoma
No full text: Pilomatricoma is a relatively common benign cutaneous adnexal tumor and a well-recognized entity, while its pigmented variant is far less common and less reported. Its estimated frequency ranges from 11 to 24%, according to a limited number of published case series. This article describes the case of a 42-year-old man presenting a firm subcutaneous nodule of the periareolar region. Histopathologic examination revealed a cystic lesion composed of matrical and supramatrical cells accompanied by a foreign body granulomatous cell reaction. Interestingly, a hyperpigmented area with numerous hyperplastic melanocytes and few mitoses was detectable. In order to assess the cell lineage of the mitotically active component in the hyperpigmented area, double immunohistochemistry with Ki67/Mart1 and p63/SOX10 was performed. Pigmented pilomatricoma is an underrecognized, underreported variant, and double immunohistochemistry stain is an effective tool in providing the correct interpretation of the proliferative activity in the different cellular populations
Molecular Biomarkers in Triple-Negative Breast Cancer // Молекулярни биомаркери при тройно негативни карциноми на гърдата
No full textТройно негативният карцином на гърдата (ТНКГ), характеризиращ се с липса на експресия на рецептори за естроген, прогестерон и HER2, е с най-агресивно поведение, най-висок риск от метастази и рецидив. Целта на проучването е да се изследва прогностичната ролята на тумор инфилтриращите лимфоцити (TILs) и експресията на CD8 и FOXP3 от стромалните клетки във връзка с клинико-морфологичните характеристики на изследваните пациенти и преживяемостта без заболяване (DFS). Всички анализи са осъществени с дигитален софтуер. В проучването са включени 244 пациента с ТНКГ. Клинико-морфологичните характеристики на изследваните пациенти включват: пациенти над 50 години (56,60%), диагностицирани във II клиничен стадий (49,2%), с дуктален инвазивен КГ (90,5%), с карциноми с ниска степен на диференциация (87,7%) и висок пролиферативен индекс (84,5%). В проучване cut-off стойностите на изследваните показатели са следните: TILs 30%, CD8 - 474 и FOXP3 – 57. Резултатите ни показват, че високите стойности на TILs CD8 и FOXP3 корелират с по-млада възраст (50 years, 56%), patients with II clinical stage disease (49.2%), with ductal invasive breast cancer of non-special type (NST BC) (90,5%), high-grade tumours (87.7%) and tumours with high proliferative index (84.5%). The cut-offs for the examined parameters are TILs -30%, CD8 – 474, FOXP3 – 57. Our results show that high TILs, CD8 and FOXP3 correlate with younger age (<50 years) (р=0.001, р=0.003 and р=0.023), with high grade tumors (p=0.001, p=0.007 and р=0.002), with some histological subtypes (ductal infiltrating NST BC, medullar BC and metaplastic BC) (р=0.008, р=0.002 and р=0.001) and high proliferative index (р=0.046, р=0.027 and р=0.003). TILs were strongly correlated with CD8 and moderately correlated with FOXP3. Also, CD8 strongly correlates with FOXP3. Patients with high CD8 and FOXP3 have better DFS (р=0,001 and р=0,004)
Molecular Analysis of an Intestinal Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) Reveals MLH1 Methylation-driven Microsatellite Instability and a Monoclonal Origin: Diagnostic and Clinical Implications
No full textMixed neuroendocrine/non-neuroendocrine neoplasms (MiNEN) are rare mixed epithelial neoplasms in which a neuroendocrine component is combined with a non-neuroendocrine component. Here, we provide the clinical, pathologic, and molecular report of a 73-year-old-man presenting with an intestinal MiNEN. The lesion was composed of a well-differentiated G3 neuroendocrine tumor and a colloid adenocarcinoma. The molecular characterization was performed using a multigene next-generation sequencing panel. The neoplasm displayed microsatellite instability due to MLH1 promoter methylation. The extended molecular profile documented the same mutations affecting ARID1A, ASXL1, BLM, and RNF43 genes in both components, indicating a monoclonal origin of the tumor. Regarding component-specific gene mutations, BRCA2 was specifically altered in the neuroendocrine area. It may represent a new actionable target for precision oncology in MiNEN, but the lack of its alteration in the colloid component calls for further considerations on intratumor heterogeneity. The most important finding with potential immediate implications regards the presence of microsatellite instability: it indicates that this molecular alteration should become part of the diagnostic algorithm for these rare neoplasms
Prognostic factors in phyllodes tumours of the breast: retrospective study on 166 consecutive cases
No full textBackground: Phyllodes tumours (PTs) are rare fibroepithelial tumours accounting for <1% of all breast tumours. We assessed clinicopathological features and their prognostic effect in a single-institution patients' cohort.
Methods: Patients diagnosed with PT between 2001 and 2018 at our institution were identified. Clinical, surgical and pathological features were collected. Phyllodes-related relapse was defined as locoregional or distant recurrence (contralateral excluded), whichever first.
Results: A total of 166 patients were included: 115 with benign, 30 with borderline and 21 with malignant PTs. Features associated with malignant PT were younger age, larger T size, higher mitotic count, marked cytological atypia, stromal overgrowth, stromal hypercellularity, necrosis and heterologous differentiation (all p5 cm vs T≤2 cm). Higher tumour-infiltrating lymphocytes (TILs) were associated with borderline and malignant PT (p=0.023); TILs were not associated with phyllodes-related relapse-free survival (HR 0.58, p=0.361 for TILs>2% vs≤2%). Overall, four patients died because of PT: three patients with malignant and one with borderline PT.
Conclusions: Patients with malignant PT had increased rates of phyllodes-related relapse and phyllodes-related death. Cellular atypia and heterologous differentiation were poor prognostic factors in the entire cohort; large tumour size was associated with an increased risk of phyllodes-related relapse in benign PT
Latest changes in the molecular classification of breast cancer and triple negative breast cancer
No full textBreast cancer (BC) is a heterogeneous disease including multiple histological subtypes with different biological behavior and clinical outcome for the patient. Due to its heterogeneity, BC is classified into different groups, providing possibilities for target therapies and improving the outcome – histological, TNM classification, molecular classification. The molecular classification, proposed at the beginning by Perou et al in 2000, divides BC into 5 subtypes - Luminal A, Luminal B, HER 2 enriched, claudin-low and basal like.More attention should be paid to the further classification of basal like BC. This is also a heterogeneous disease including triple negative breast cancers (TNBC). They show no expression of ER, PrR or HER2 and are considered difficult to treat. Despite the bad prognosis, some of these patients demonstrate great benefit from the traditional neoadjuvant chemotherapy. Lehman et al. identified 6 molecular subtypes of TNBC, using gene expression profiling – basal like 1 (BL1), basal like 2 (BL2), mesenchymal (M), mesenchymal stem-like (MSL), immunomodulatory (IM) and luminal androgen receptor (LAR).However, after histopathological quantification and laser-capture microdissection they refined their classification and in 2016 the new molecular classification of TNBC excluding the IM and MSL types was published. The working group has concluded that the characteristics of the tumors in these two groups were due to tumor-infiltrating lymphocytes and tumor-associated stromal cells and not to the tumor cells. The refinement of the classification of TNBC provides a better distribution of the patients into the different groups and better response to the applied therapy
Regional lymph node metastases in a patient with adenosquamous breast cancer with syringomatous component
No full textIntroductionLow-grade adenosquamous breast cancer (ASBC) is a rare histological subtype of metaplastic breast cancer. Even tough it is a triple negative cancer, it is characterised by a good prognosis, low probability of distant metastases and higher risk of local relapses.Clinical CaseThis is a clinical case of a 65-year-old woman with a retroareolar nodule on the left breast. After histological examination a diagnosis of low-grade adenosquamous breast cancer was established. Further examination of lymph nodes showed regional metastasis of ASBC.DiscussionDue to its specific growth patterns the diagnosis could easily be mistaken, mostly on core biopsy samples. Vast differential diagnosis is required. The definitive diagnosis could be given on histological examination of surgical sample. Therefore, the recommended treatment is surgical removal of the lesion until more follow-up data is available in literature.
