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.

HighlightsPrimary gastric choriocarcinoma is a rare and aggressive tumour with poor prognosis.It is a β-HCG-producing tumour of trophoblastic cells.Most (70%) primary gastric choriocarcinomas have an adenocarcinoma component.Definitive diagnosis is usually made after surgery.The optimal treatment has not yet been established due to very few reported cases.

BackgroundMastocytosis 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 presentationA 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.ConclusionsTo 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.

HighlightsWe present a case of a 71-year-old patient with isolated splenic metastasis, diagnosed 6 years after primary treatment of a gastric adenocarcinoma, who underwent splenectomy.Isolated splenic metastasis, particularly from gastric adenocarcinoma, are rare.In cases of isolated splenic metastasis from gastric adenocarcinoma, fit patients should be considered for splenectomy, since there are reports of good patient survivals.

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.

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Sclerosing epithelioid fibrosarcoma (SEF) is a singular entity, recognized as malignant fibroblastic sarcoma variant, which deviates from classic type due to the indolent progression and late metastasis. Typically occurring in middle aged adults, it presents a predilection for deep soft tissues, particularly skeletal muscle. It often involves the fascia or periosteum, and less frequently it may invade or arise from bone. Diagnosis and recognition are critical, as the generally bland appearance or when intraosseous similarity with an osteoid lesion, can lead to misdiagnosis. We herein present a case showing an unusual location and challenging radiological morphological and surgical features.