Kaposiform Lymphangiomatosis in a Male Adolescent: A Clinical Challenge and the Role of Genetics.

Kaposiform lymphangiomatosis (KLA) is a rare and aggressive generalized lymphatic anomaly (GLA), with distinctive clinical, radiology, morphologic, and genetic features. It does not have a current standard treatment and presents poor overall prognosis. Somatic mutations in the RAS pathway were reported as the likely driver for the majority of patients.

Congenital Infantile Myofibroma: The Importance of Molecular Diagnosis.

Infantile myofibromatosis is an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is one of the most common benign fibrous tumors of infancy. Even though these tumors do not spread, they can compress or damage nearby organs.

Exosomal glypican-1 is elevated in pancreatic cancer precursors and can signal genetic predisposition in the absence of endoscopic ultrasound abnormalities.

Background: Individuals within specific risk groups for pancreatic ductal adenocarcinoma (PDAC) [mucinous cystic lesions (MCLs), hereditary risk (HR), and new-late onset diabetes mellitus (NLOD)] represent an opportunity for early cancer detection. Endoscopic ultrasound (EUS) is a premium image modality for PDAC screening and precursor lesion characterization. While no specific biomarker is currently clinically available for this purpose, glypican-1 (GPC1) is overexpressed in the circulating exosomes (crExos) of patients with PDAC compared with healthy subjects or those harboring benign pancreatic diseases.

Endoscopic Ultrasound Through-The-Needle Biopsy of Pancreatic Cysts: Toward Procedure Standardization.

Background And Aims: EUS-guided through-the-needle microforceps biopsy (EUS-TTNB) was introduced as a new diagnostic tool to establish pancreatic cyst histotype and help to better risk stratify the patients. The aim of this study was to describe the technical success, diagnostic yield, and adverse events of through-the-needle biopsy and discuss the technique variations, focusing on future procedure standardization.

Methods: We performed a prospective single-center study including patients with presumed mucinous cysts harboring worrisome features or indeterminate cyst type on imaging, submitted to EUS-TTNB using Moray® microforceps between March 2018 and September 2021.

Performance of the Bethesda System for Reporting Thyroid Cytology in Multi-Institutional Large Cohort of Pediatric Thyroid Nodules: A Detailed Analysis.

To evaluate the performance of TBSRTC through multi-institutional experience in the paediatric population and questioning the management recommendation of ATA Guidelines Task Force on Paediatric Thyroid Cancer; Methods: A retrospective search was conducted in 4 institutions to identify consecutive thyroid FNAC cases in paediatric population between 2000 and 2018. Following the 2nd TBSRTC, the risk of malignancy ratios (ROMs) was given in ranges and calculated by 2 different ways. Sensitivity, specificity, PPV, NPV and DA ratios were calculated using histologic diagnosis as the gold standard; Results: Among a total of 405 specimens, the distribution of cases for each category was, 44 (11%) for ND, 204 (50%) for B category, 40 (10%) for AUS/FLUS, 36 (9%) for FN/SFN, 24 (6%) for SFM and 57 (14%) for M categories.

Fine needle biopsy of pediatric-type follicular lymphoma-Cytology, flow cytometry and FISH pattern: A case report.

Pediatric-type follicular lymphomas are rare lymphomas, affecting mostly children and young adults. These are characterized by an excellent prognosis, despite their conservative therapeutic approach. Recognized as an entity in the most recent 2016 WHO classification of tumors of hematopoietic and lymphoid tissues, its diagnosis is based on the recognition of an exclusively nodular architecture, thus conditioning the possibility of a cytological diagnosis.

Pediatric Small Round Blue Cell Tumors: Cytopathological Puzzle or an Intriguing Scientific Window?

Small round blue cell tumors or more commonly called small round cell tumors (SRCTs) are undifferentiated neoplasms, sharing an overlapping morphological pattern of small round blue cells. Diagnosing these tumors represents a complex challenge for cytopathologists and for general surgical pathologist alike. This stems from the fact that these tumors share not only similar morphological features, but also some immunophenotypic characteristics, thus requiring a broad panel of antibodies, which might not be included in the most basic immunohistochemistry panels, used in the routine work of most pathology laboratories.

Use of suction during endoscopic ultrasound-guided fine needle biopsy of solid pancreatic lesions with a Franseen-tip needle: a pilot comparative trial.

 The utility of suction during endoscopic ultrasound (EUS) fine-needle biopsy (FNB) using Franseen-tip needle remains unclear and has not been evaluated in randomized trials. We designed a randomized crossover trial to compare the diagnostic yield during EUS-FNB using a 22G Franseen-tip needle, with and without standard suction. Consecutive patients undergoing EUS-guided sampling of solid pancreatic lesions were recruited.

A Proposal for the Performance, Classification, and Reporting of Lymph Node Fine-Needle Aspiration Cytopathology: The Sydney System.

Background: The evaluation of lymph nodes (LN) by fine-needle aspiration cytology (FNAC) is routinely used in many institutions but it is not uniformly accepted mainly because of the lack of guidelines and a cytopathological diagnostic classification. A committee of cytopathologists has developed a system of performance, classification, and reporting for LN-FNAC.

Methods: The committee members prepared a document that has circulated among them five times; the final text has been approved by all the participants.

Unknown primary large-cell neuroendocrine tumor.

Large-cell neuroendocrine tumors (NETs) are poorly differentiated malignancies of rare incidence and aggressive nature. NETs mostly arise in the lung followed by the gastrointestinal tract, although they are potentially ubiquitous throughout the body. Primary unknown NET has a worse prognosis and shorter survival comparing with other NETs, with limited available data in the literature concerning this subgroup.

Irritable Hip as the Inaugural Symptom for Neuroblastoma.

Case Report: A four-year-old girl presented with fever and a painful limp in the left hip. Pain characteristics and anemia detected in the blood analyses were the first warning signs that the hip process was not standard. Although the primary suspicion was of septic arthritis, a CT scan of the abdomen revealed an adrenal neuroblastoma.

Management of cytologic material, preanalytic procedures and biobanking in lymph node cytopathology.

The range of pathologies that lymph node (LN) fine needle cytology (FNC) may encounter is extremely wide and ancillary techniques, in addition to traditional smears, are generally required to reach reliable cytologic diagnoses. Storing part of the cytologic material may be useful or necessary for molecular testing. The main difficulties concern the generally small size of the sample and the different methods of acquisition of LN-FNC.

Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations.

Objectives: Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome.

Methods: Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis.

A Basic Approach to Lymph Node and Flow Cytometry Fine-Needle Cytology.

According to the World Health Organization (WHO), the new classification of lymphomas is mainly based on morphological, immunophenotypical, and molecular criteria. Consequently, this new approach has led from the substantial role that architecture played in the past to a secondary panel highlighting the role of fine-needle biopsy (FNB). Applied together with other ancillary techniques, such as flow cytometry (FC), FNB is a potential tool for the diagnosis of lymphomas, and enlarged lymph nodes represent an excellent target for the implementation of this technique.

Anal HR-HPV prevalence assessed with the cobas HPV Test in an HIV-infected population of men who have sex with men.

Background: Anal squamous cell cancer is an HPV associated disease, highly prevalent in HIV-infected men who have sex with men (MSM). We evaluate the prevalence of HPV infection in an HIV-positive MSM population attending our hospital. Cytological results are correlated with an HR-HPV genotype.