Lymphomatoid papulosis in a 2-year-old child

Lymphomatoid papulosis (LP) is a primary cutaneous T-cell lymphoma (6) characterized by clinical benignity despite its malignant histological appearance. Its incidence is 1.2-1.9/1,000,000; it is even rarer in the child (2). Its characteristic self-healing tendency has been attributed to the CD30 receptor glycoprotein which belongs to the superfamily of tumor necrosis factor and, interacting with its ligand, regulates cell survival and apoptosis (2, 7). However, the observation of the same self-healing clinical behavior in forms of LP characterized by the scarcity or absence of CD30+ cells clashes against this hypothesis. The most important problems of LP are the differential diagnosis from other benign and malignant disorders and the possible association with other malignancies. As regards the differential diagnosis, in the cases with one or a few nodules that arise in the hot period insect bites must be considered: the latter are symptomatic and rapidly reach their maximum size, unlike the nodules of LP that continue to grow for a couple of weeks. In forms with many elements, LP must be differentiated from pityriasis lichenoides, in which the elements are more numerous and smaller. The most difficult differential diagnosis is with CD30+ primary cutaneous anaplastic large cell lymphoma which has an identical histological picture, but whose nodules are less numerous, larger and above all do not regress spontaneously. As for the possible association of LP with other malignancies, especially lymphomas, it must be remembered that the latter arise in about 15% of cases in the first 5 years of follow-up; however, the percentage does not increase significantly in the following 5 years and does not exceed 20% after 25 years follow-up. In adults, the most frequent malignancy is mycosis fungoides (3). LP in the child does not differ from the adult form either clinically or histologically. Available data suggest that in children LP has a more indolent course, regresses more easily and is less frequently associated with malignancy (1). In a report on 35 patients with an average follow-up of 9 years the risk was 8.6% (4); in a recent meta-analysis of 251 children with LP (5) the incidence of lymphomas was 5.6%. However, the most frequent lymphoma in children is the primary cutaneous lymphoma with CD30+ large anaplastic cells. Lymphoma can arise before, during or after LP. The chance of developing extracutaneous lymphoma is greater in patients who have multifocal skin lesions. The actual case was presented for its early onset and to underline the better prognosis of LP in the pediatric age

Hodgkin lymphoma: A special microenvironment

Classical Hodgkn’s lymphoma (cHL) is one of the most particular lymphomas for the few tumor cells surrounded by an inflammatory microenvironment. Reed-Sternberg (RS) and Hodgkin (H) cells reprogram and evade antitumor mechanisms of the normal cells present in the microenvi-ronment. The cells of microenvironment are essential for growth and survival of the RS/H cells and are recruited through the effect of cytokines/chemokines. We summarize recent advances in gene expression profiling (GEP) analysis applied to study microenvironment component in cHL. We also describe the main therapies that target not only the neoplastic cells but also the cellular components of the background

Death related to a congenital vascular anomaly of pulmonary hamartoma type: Malpractice or tragic fatality?

In forensic pathology, apparently straightforward cases can often hide rarities that, if not correctly interpreted, can alter the results of the entire investigation, leading to misinterpretations. This occurs when the investigation is conducted to assess medical malpractice. An unexpected death, with no known apparent cause, is often linked to an underlying disease process of unclear etiological origin whose nature can, unfortunately, be properly investigated only post-mortem. This presentation shows a case study, in which it was possible to reconduct the death of a patient to a natural pathology and not to medical treatment. Here, the authors illustrate a case with a hamartoma developed in chronic inflammatory conditions (bronchiectasis) that was difficult to differentiate from lung cancer due to the inability to perform specific instrumental examinations. The hamartoma, usually benign and identifiable by standard instrumental investigations, in this case, led to the patient’s death precisely during the execution of a bronchoscopy. However, in the absence of a certain cause of death, public opinion unanimously attributes a patient’s disease to medical error. Indeed, a routine practice such as bronchoscopy should not cause death and consequently, the doctor must have made a mistake. Fortunately, the autopsy not only demonstrated the origin of the bleeding but also unveiled the reason for this, as rare congenital lung disease. Fate, one might say

From genetics to histomolecular characterization: An insight into colorectal carcinogenesis in lynch syndrome

Lynch syndrome is a hereditary cancer‐predisposing syndrome caused by germline defects in DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, and PMS2. Carriers of pathogenic mutations in these genes have an increased lifetime risk of developing colorectal cancer (CRC) and other malignancies. Despite intensive surveillance, Lynch patients typically develop CRC after 10 years of follow‐up, regardless of the screening interval. Recently, three different molecular models of colorectal carcinogenesis were identified in Lynch patients based on when MMR deficiency is acquired. In the first pathway, adenoma formation occurs in an MMR‐proficient background, and carcinogenesis is characterized by APC and/or KRAS mutation and IGF2, NEU‐ ROG1, CDK2A, and/or CRABP1 hypermethylation. In the second pathway, deficiency in the MMR pathway is an early event arising in macroscopically normal gut surface before adenoma for-mation. In the third pathway, which is associated with mutations in CTNNB1 and/or TP53, the adenoma step is skipped, with fast and invasive tumor growth occurring in an MMR‐deficient context. Here, we describe the association between molecular and histological features in these three routes of colorectal carcinogenesis in Lynch patients. The findings summarized in this review may guide the use of individualized surveillance guidelines based on a patient’s carcinogenesis subtype

Hpv-negative cervical cancer: A narrative review

Cervical cancer (CC) is the fourth most frequent cancer in women worldwide. HPV infection is associated with the majority of CC cases, but a small proportion of CCs actually test negative for HPV. The prevalence of HPV among CC histotypes is very different. It has been suggested that HPV-negative CC may represent a biologically distinct subset of tumors, relying on a distinct pathogenetic pathway and carrying a poorer prognosis, than HPV-positive CCs. Although, the discordance in terms of sensitivity and specificity between different HPV tests as well as the potential errors in sampling and storing tissues may be considered as causes of false-negative results. The identification of HPV-negative CCs is essential for their correct management. The aim of this narrative review is to summarize the clinical and pathological features of this variant. We also discuss the pitfalls of different HPV tests possibly leading to classification errors

Content analysis of Advance Directives completed by patients with advanced cancer as part of an Advance Care Planning intervention : insights gained from the ACTION trial

Purpose Writing an Advance Directive (AD) is often seen as a part of Advance Care Planning (ACP). ADs may include specific preferences regarding future care and treatment and information that provides a context for healthcare professionals and relatives in case they have to make decisions for the patient. The aim of this study was to get insight into the content of ADs as completed by patients with advanced cancer who participated in ACP conversations. Methods A mixed methods study involving content analysis and descriptive statistics was used to describe the content of completed My Preferences forms, an AD used in the intervention arm of the ACTION trial, testing the effectiveness of the ACTION Respecting Choices ACP intervention. Results In total, 33% of 442 patients who received the ACTION RC ACP intervention completed a My Preferences form. Document completion varied per country: 10.4% (United Kingdom), 20.6% (Denmark), 29.2% (Belgium), 41.7% (the Netherlands), 61.3% (Italy) and 63.9% (Slovenia). Content analysis showed that 'maintaining normal life' and 'experiencing meaningful relationships' were important for patients to live well. Fears and worries mainly concerned disease progression, pain or becoming dependent. Patients hoped for prolongation of life and to be looked after by healthcare professionals. Most patients preferred to be resuscitated and 44% of the patients expressed maximizing comfort as their goal of future care. Most patients preferred 'home' as final place of care. Conclusions My Preferences forms provide some insights into patients' perspectives and preferences. However, understanding the reasoning behind preferences requires conversations with patients

Lupus vasculitis: An overview

Lupus vasculitis (LV) is one of the secondary vasculitides occurring in the setting of systemic lupus erythematosus (SLE) in approximately 50% of patients. It is most commonly associated with small vessels, but medium-sized vessels can also be affected, whereas large vessel involvement is very rare. LV may involve different organ systems and present in a wide variety of clinical manifestations according to the size and site of the vessels involved. LV usually portends a poor prognosis, and a prompt diagnosis is fundamental for a good outcome. The spectrum of involvement ranges from a relatively mild disease affecting small vessels or a single organ to a multiorgan system disease with life-threatening manifestations, such as mesenteric vasculitis, pulmonary hemorrhage, or mononeuritis multiplex. Treatment depends upon the organs involved and the severity of the vasculitis process. In this review, we provide an overview of the different forms of LV, describing their clinical impact and focusing on the available treatment strategies

The Italian document: decisions for intensive care when there is an imbalance between care needs and resources during the COVID-19 pandemic

Background: In early 2020, the Italian Society of Anesthesia Analgesia Resuscitation and Intensive Care (SIAARTI) published clinical ethics recommendations for the allocation of intensive care during COVID-19 pandemic emergency. Later the Italian National Institute of Health (ISS) invited SIAARTI and the Italian Society of Legal and Insurance Medicine to prepare a draft document for the definition of triage criteria for intensive care during the emergency, to be implemented in case of complete saturation of care resources. Methods: Following formal methods, including two Delphi rounds, a multidisciplinary group with expertise in intensive care, legal medicine and law developed 12 statements addressing: (1) principles and responsibilities; (2) triage; (3) previously expressed wishes; (4) reassessment and shifting to palliative care; (5) collegiality and transparency of decisions. The draft of the statements, with their explanatory comments, underwent a public consultation opened to Italian scientific or technical-professional societies and other stakeholders (i.e., associations of citizens, patients and caregivers; religious communities; industry; public institutions; universities and research institutes). Individual healthcare providers, lay people, or other associations could address their comments by e-mail. Results: Eight stakeholders (including scientific societies, ethics organizations, and a religious community), and 8 individuals (including medical experts, ethicists and an association) participated to the public consultation. The stakeholders’ agreement with statements was on average very high (ranging from 4.1 to 4.9, on a scale from 1—full disagreement to 5—full agreement). The 4 statements concerning triage stated that in case of saturation of care resources, the intensive care triage had to be oriented to ensuring life-sustaining treatments to as many patients as possible who could benefit from them. The decision should follow full assessment of each patient, taking into account comorbidities, previous functional status and frailty, current clinical condition, likely impact of intensive treatment, and the patient's wishes. Age should be considered as part of the global assessment of the patient. Conclusions: Lacking national guidelines, the document is the reference standard for healthcare professionals in case of imbalance between care needs and available resources during a COVID-19 pandemic in Italy, and a point of reference for the medico-legal assessment in cases of dispute

A Giant Gastric Hyperplastic Polyp in Non-Familial Juvenile Polyposis of the Stomach: A Case Report

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract, which may also occur in people with no family history of the disorder. It usually involves the colorectum and more rarely the stomach. Juvenile polyps can vary in size from a few millimeters to over 5cm, and, although they have microscopically specific characteristics, the distinction between them and inflammatory polyps is often difficult. Here we present a case of 41 year old woman with no family history of polyposis who underwent esophagogastroduodenoscopy (EGDS) because of anemia that showed a huge and extensive gastric lesion (10 cm in diameter) and other small polyps scattered through the stomach lumen and duodenum. The histology report revealed the big lesion and the polyps were hyperplastic polyps with infiltration of inflammatory cells. Due to clinical history and EGDS findings, the patient underwent a pylorus-preserving gastrectomy, and to define a final diagnosis genetic test was performed and showed mutation in the SMAD4 gene. Thus non-familial juvenile polyposis of the stomach was diagnosed. An original feature of the current case was the rare finding of huge hyperplastic gastric polyp in a woman with rare non-familial JPS of the stomach. In fact, to our best knowledge this is the first report describing a so giant gastric polyp in JPS of the stomach in an adult woman. Furthermore, our report suggests that it is noteworthy to consider JP as differential diagnosis in patients with non-familial polyposis, anemia or hypoproteinemia and polyps histologically diagnosed as hyperplastic and performing genetic testing for confirming diagnosis and helping in the timely and appropriate management