Breast Tumours Resembling the Tall Cell Variant of Thyroid Papillary Carcinoma: Are They Part of the Papillary Carcinoma Spectrum or a Distinct Entity?

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. RESULTS: Nuclear overlapping and eosinophilic granular cytoplasm were seen in 81 and 75% of the cases, whereas nuclear grooves, nuclear clearing, and tall cells were noticed in 51, 42, and 38% of the cases, respectively; 27% of the cases showed macro- and micro-follicular architecture filled with colloid-like material. Five cases (7%) lacked oestrogen receptor (ER) expression. Co-existing invasive carcinoma was seen in 25 cases (33%). Two cases displayed several features characteristic of BTRTPC, and both were ER-negative. CONCLUSION: Features characteristic of BTRTPC overlap with other PCs of the breast. Molecular and immunohistochemical biomarkers are needed to provide objective diagnostic criteria for the characterisation of such lesions in routine practice.

Invasion in breast lesions: the role of the epithelial-stroma barrier.

Despite the significant biological, behavioural and management differences between ductal carcinoma in situ (DCIS) and invasive carcinoma of the breast, they share many morphological and molecular similarities. Differentiation of these two different lesions in breast pathological diagnosis is based typically on the presence of an intact barrier between the malignant epithelial cells and stroma; namely, the myoepithelial cell (MEC) layer and surrounding basement membrane (BM). Despite being robust diagnostic criteria, the identification of MECs and BM to differentiate in-situ from invasive carcinoma is not always straightforward. The MEC layer around DCIS may be interrupted and/or show an altered immunoprofile. MECs may be absent in some benign locally infiltrative lesions such as microglandular adenosis and infiltrating epitheliosis, and occasionally in non-infiltrative conditions such as apocrine lesions, and in these contexts this does not denote malignancy or invasive disease with metastatic potential. MECs may also be absent around some malignant lesions such as some forms of papillary carcinoma, yet these behave in an indolent fashion akin to some DCIS. In Paget's disease, malignant mammary epithelial cells extend anteriorly from the ducts to infiltrate the epidermis of the nipple but do not typically infiltrate through the BM into the dermis. Conversely, BM-like material can be seen around invasive carcinoma cells and around metastatic tumour cell deposits. Here, we review the role of MECs and BM in breast pathology and highlight potential clinical implications. We advise caution in interpretation of MEC features in breast pathology and mindfulness of the substantive evidence base in the literature associated with behaviour and clinical outcome of lesions classified as benign on conventional morphological examination before changing classification to an invasive lesion on the sole basis of MEC characteristics.

Infantile myofibromatosis - a clinical and pathological diagnostic challenge.

Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal period and primary infancy.Three clinical types have been described: solitary, multicentric, and generalized (with visceral involvement). A correct characterization of the histopathology is essential to diagnose these neoplasias in early infancy. We present a case of multicentric infantile myofibromatosis with regression over time.

Soil low-density geochemical mapping of technology-critical elements (TCEs) and its environmental implications: The case of lithium in Portugal.

Increased use of technology-critical elements (TCEs) like lithium (Li), and their socio-environmental impacts, make it an issue of national and global importance. In Portugal, new Li exploration/exploitation projects are a very likely scenario. Thus, it is essential to establish geochemical backgrounds/thresholds for Li in soil, which can have several applications. Here, Li contents were determined and mapped from a previous low-density geochemical survey that covered the entire continental area of Portugal, following UNESCO's IGCP 259 project recommendations. The sampling sites were chosen in undisturbed/uncultivated land to ensure a reliable representation of "natural" soils. A total of 152 samples (0-20 cm; <2 mm) were taken for this study. Soil Li analysis was carried out by Flame Atomic Absorption Spectrometry (FAAS) after aqua regia (AR) extraction (geoavailable Li), while a subset of 55 samples underwent further digestion with a strong acid mixture to measure total Li (FAAS). This was done to ascertain the relationship between the two Li fractions and its environmental significance. Soil Li spatial distribution was produced with GIS software. Median values of 14 mg/kg for geoavailable Li and 60 mg/kg for total Li were estimated from these datasets. The first value is comparable to the median Li (11 mg/kg) from an AR-extraction for agricultural/grazing soils in Europe (GEMAS project). Based on spatial analysis, Cambisols overlying granitoids in northern/central Portugal contain the highest AR-extractable Li (40 mg/kg). Such areas are recognized for hard-rock Li mineralizations, mainly associated with aplite-pegmatites. Principal Component Analysis identified an important Li-Al relationship, linked to Cambisols and Leptosols overlying granitoids/metamorphic rocks. The geoavailable/total Li ratios revealed that >60 % of the samples have a relatively high proportion (>45 %) of Li that can be mobilized/dispersed in the surface environment. These findings are intended to support the management of potential concerns regarding Li mining in mainland Portugal.

Pre-vaccination immune response to COVID-19 in a population in Northeast Portugal.

PURPOSE: To study the immunization status and IgM and IgG antibody behavior against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in an unvaccinated population of Northeast Portugal (including RT-PCR diagnosed and undiagnosed individuals). METHODS: Application of a clinical-epidemiological survey, and analysis of IgM and IgG SARS-COV-2 antibodies (against N core protein) in 362 participants that voluntarily sought the laboratory for testing. RESULTS: At the time of the analysis, 31.7% (n = 114) of the study population had a previous SARS-CoV-2 diagnosis, 48.3% of which were asymptomatic, and 71.9% IgG seropositive. Of these, 83.3% and 60% were, respectively, IgM and IgG seropositive within 2 weeks after the initial diagnosis. Both antibodies peaked in the 3rd week post diagnosis, with titers decreasing over the following weeks, until a state of seronegativity was achieved after the 6th week for IgM, and the 21st for IgG. Symptomatic patients showed higher IgM and IgG values, when compared to asymptomatic ones. Fever, the most reported symptom, was found to be positively associated with IgM values. Ages of ≤ 18-year-old and ≥ 65-year-old exhibited the highest median values for both IgM and IgG, with the former being statistically significant. In the undiagnosed group, 13.9% and 11.1% were seropositive for IgM and IgG, respectively. CONCLUSION: IgM and IgG displayed a similar initial increase (within 1/2 weeks), with IgG having a significant decrease after the 21st week post-diagnosis, translating a loss of immunity at this point. The youngest and oldest symptomatic age groups were found to be the highest responders. Antibody assays enabled the identification of previously undiagnosed participants.

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown. CASE PRESENTATION: A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. CONCLUSIONS: To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.

Splenic metastasis from gastric adenocarcinoma: A rare case.

INTRODUCTION: Isolated splenic metastasis are very rare. There are only a few reported cases of patients with isolated splenic metastasis from gastric primary tumors. PRESENTATION OF CASE: We present a case of a 71-year-old patient with isolated splenic metastasis, diagnosed 6 years after primary treatment of a gastric adenocarcinoma, who previously had a lung resection also for metastasis. The patient was submitted to chemotherapy and then to splenectomy. The patient is alive and has no evidence of disease 7 months after splenectomy. DISCUSSION: We discuss the theories that explain the rare event of splenic metastasis, the route of metastization, the workup, treatment and survival of patients with isolated splenic metastasis. To the best of our knowledge, our case has the second longest interval from the primary diagnosis of gastric cancer to the diagnosis of splenic metastasis. CONCLUSION: In cases of isolated splenic metastasis from gastric adenocarcinoma, fit patients should be considered for splenectomy, since there are reports of good patient survivals.

Primary gastric choriocarcinoma: A rare case.

INTRODUCTION: Primary gastric choriocarcinoma accounts for 0.08% of all gastric cancers. It is a rapidly growing, widely metastatic and ß-HCG-producing tumour of trophoblastic cells. PRESENTATION OF CASE: A 69-year-old white man presented to the hospital with symptomatic anaemia. An upper gastrointestinal endoscopy showed an ulcer of the cardia and lesser curvature, whose biopsy specimens proved to be malignant (carcinoma cells, non-specified). The patient underwent total gastrectomy with D2 lymphadenectomy. A histologic evaluation revealed a choriocarcinoma admixed with adenocarcinoma cells without lymph node metastases. The patient died from haemorrhagic shock, due to rupture of liver metastases and a massive haemoperitoneum, within 2 months of the initial presentation. DISCUSSION: Primary gastric choriocarcinoma characteristics resemble those of gastric primary adenocarcinoma. The dedifferentiation theory is the most widely accepted theory to explain the pathogenesis of PGC. It is essential to rule out other possible primary lesions such as testicular tumour. The optimal treatment is not yet well established due to very few reported cases. CONCLUSION: Primary gastric choriocarcinoma is a rare tumour with an aggressive behaviour and very poor prognosis.

17-Week Delay Surgery after Chemoradiation in Rectal Cancer with Complete Pathological Response.

Neoadjuvant chemoradiation (CRT) followed by curative surgery still remains the standard of care for locally advanced rectal cancer (LARC). The main purpose of this multimodal treatment is to achieve a complete pathological tumor response (ypCR), with better survival. The surgery delay after CRT completion seems to increase tumor response and ypCR rate. Usually, time intervals range from 8 to 12 weeks, but the maximum tumor regression may not be seen in rectal adenocarcinomas until several months after CRT. About this issue, we report a case of a 52-year-old man with LARC treated with neoadjuvant CRT who developed, one month after RT completion, an acute myocardial infarction. The need to increase the interval between CRT and surgery for 17 weeks allowed a curative surgery without morbidity and an unexpected complete tumor response in the resected specimen (given the parameters presented in pelvic magnetic resonance imaging (MRI) performed 11 weeks after radiotherapy completion).