PATHOLOGICA最新文献

Noma is a potentially fatal, gangrenous disease that leads to tissue destruction in the face. It has been proven to develop mostly in children living in extreme poverty.

There is a lack of data regarding microbiological analysis of the ulcers, making the knowledge of the bacteria involved and its etiology still unclear. Within this framework, pathological specimens from museological collections could offer relevant improvements for the comprehension of etiology of noma. The Morgagni Museum of Human Anatomy in Padua hosts a unique case of noma dating back to 1902, and two related specimens, a mesenteric lymphatic ganglion and a spleen.

The bacteriological analysis of the Museum's case showed the presence of Typhus bacilli in the patient's cheek and led to hypothesize the correlation between typhoid infection and noma.

The specimens coming from historical collections may lead to better knowledge about etiology of noma, and potentially prevent its invalidating sequelae.

Aims: The American Thyroid Association (ATA) updated guidelines for the treatment of thyroid cancer, leading to a less aggressive approach depending on clinical-pathological features. As a result, the possibility to perform lobectomy versus total thyroidectomy has significantly increased. The majority of thyroid cancers are indolent with an excellent prognosis, while only 15% of patients with well-differentiated carcinoma, including papillary thyroid carcinoma (PTC), have locally advanced thyroid cancer (LATC) at diagnosis. We reviewed our practice in treating thyroid carcinoma over the last decade.

Methods: From January 2010 to December 2020, 1057 patients with uninodular benign and malignant thyroid lesions were reviewed.

Results: Among these cases, 77% were women with a median age of 49.3 years. The series involved 307 malignant diagnoses (29.05%) including 196 (61.6%) classic PTC and 38 (12%) aggressive variants of PTC, mostly tall cell variant (30 cases, 9.4%). Among malignant cases, multifocality was microscopically documented in 84 cases (26.4%). Using the ATA distribution of risk, there were 239 cases in the low risk and 68 in the intermediate risk categories. Second surgery was assessed in a total of 150 cases, showing 42 cases with additional thyroid cancer foci in the other lobe (26 single vs 16 multiple foci). Ten cases had metastatic perithyroidal lymph nodes.

Conclusion: Our data could be the basis for performing a longitudinal study in order to establish which risk factors can predict bilateral involvement and to suggest a tailored surgical approach.

High-grade corded and hyalinized endometrioid carcinoma (CHEC) is an uncommon endometrial carcinoma variant which may mimic carcinosarcoma or dedifferentiated carcinoma and has shown association with mismatch repair deficiency (MMRd) and p53 abnormalities. Herein, we expand the spectrum of high-grade CHEC by presenting two cases showing a "no specific molecular profile" (NSMP). Case #1 was a 6-cm endometrial mass in a 25-year-old woman, infiltrating the deep myometrium and cervical stroma, with diffuse lymphovascular space invasion. Case #2 was an advanced, unresectable endometrial carcinoma involving the lower third of the vagina in an 81-year-old woman. On the endometrial biopsy specimen, both cases showed a markedly atypical and mitotically active corded component merging with a FIGO G3 endometrioid component and accompanied by squamous/morular differentiation. Both tumors showed nuclear β-catenin accumulation, retained MMR protein expression, wild-type p53 pattern, and no POLE mutations.

The corded component was absent in the hysterectomy specimen of case #1 and in the vaginal biopsy specimen of case #2. The present cases confirm the clinical and molecular heterogeneity of high-grade CHEC, including a wide age range at presentation, variable prognosis, and variable molecular background. Nonetheless, these cases retain unique features that support their distinction from carcinosarcoma and dedifferentiated carcinoma. We suggest to consider them as a variant of FIGO G3 endometrioid carcinoma. Further studies are necessary in this field.

Objective: To analyze the diagnostic accuracy and feasibility of digital-PCR (dPCR) combined with next-generation sequencing (NGS) in the ERCP-guided histological diagnosis of biliary strictures to overcome the issue represented by the scarcity of sampled material.

Methods: Twenty-two prospective patients were included, and submitted to ERPC-guided biopsy or biliary resection. By histopathological analysis plus fluorescence in situ hybridization (FISH) for chromosomes 3, 7, and 17 aneuploidies, 8 cases (36.4%) were malignant, and 14 cases (63.6%) were negative. NGS was performed on paraffin-embedded tissue by a laboratory-developed panel allowing the analysis of hot-spot regions in 28 genes. Digital PCR (dPCR) was performed by QuantStudio™ AbsoluteQ™ solid dPCR and the copy-number variation (CNV) of the chromosomes 3, 7, and 17 analysed.

Results: At dPCR, 1 case showed aneuploidy of chromosome 3, and 2 cases of both chromosomes 3 and 7. These 3 cases all belonged to the positive group (p = 0.014). At NGS, 6 cases showed at least one mutated gene, all in the positive group (p < 0.001). The 3 cases showing aneuploidy at dPCR also showed mutations at NGS. Basing on these observations, we can propose a diagnostic algorithm: dPCR can be applied first, allowing a diagnosis of malignancy in one working day if aneuploidies are observed. In the case of negative dPCR, a "second-line" NGS is performed on the same extracted material.

Conclusions: The implementation of dPCR allowed the identification of nearly 40% of positive cases in just one working day. In cases of negative dPCR, the NGS procedure can start on the same extracted nucleic acid used for dPCR, requiring more time, but reaching a 75% sensitivity. More studies are required to identify other more sensitive and specific dPCR targets, but even if our algorithm does not increase diagnostic accuracy, the possibility of avoiding FISH and reaching a diagnosis in a more time- and money-saving fashion might be an important step.

Between the 15^th and 16^th centuries, the medical school in Padua revolutionised the field of anatomy through a series of scientific discoveries and educational innovations, culminating in the construction of the world's first stable anatomical theatre. This theatre was inaugurated in 1595 within Bo Palace by Hieronymus Fabricius (1533-1619).

The anatomical theatre was used for lectures until March 7, 1874, and the structure was preserved as a museum at the request of Giampaolo Vlacovich (1825-1899), the last anatomy professor to use it. Soon after, new theatres were built under the direction of Lodovico Brunetti (1813-1899) at the former convent of San Mattia, where many disciplines relocated to stay close to the new Giustinianeo Hospital. Subsequently, in the early 20^th century, under the leadership of Augusto Bonome (1857-1922) and Vittorio Rossi (1865-1938), the Rector of the University of Padua, it was decided to construct a new building for anatomical studies to replace the inadequate facilities at San Mattia. Construction of this ambitious project began in July 1920, starting with the autopsy room, called the Morgagni Theatre, which was completed in December 1922. Today, the theatre commissioned by Bonome just re-opened after a respectful restoration, with the aim of continuing the important educational activities in anatomical pathology as in the past.

Objective: The aim was to evaluate the association between fetal vascular malperfusion (FVM) and the umbilical cord characteristics in stillbirth. FVM is a category of placental lesions consistent with restriction/interruption of fetal blood flow, frequently associated with a "cord accident". In some stillbirths, gross umbilical cord abnormalities unravel at birth, helping to elucidate the cause of death; however, other cases do not show any structural alterations and therefore these cases do not have an obvious cause of death.

Methods: Retrospective histopathological evaluation of singleton antepartum stillbirths affected by of FVM. Clinical and histopathological findings were compared among cases with or without gross umbilical cord abnormalities.

Results: One hundred and three cases were evaluated. Forty-eight cases (48/103; 46.6%) of stillbirth with FVM showed gross umbilical cord abnormalities, whereas 55/103 cases (53.4%) did not show any gross anomalies. Clinical risk factors for stillbirth were equally distributed between cases. Notably, the main histological lesion observed in cases without gross umbilical cord abnormalities was fatal thrombosis of the fetal vessels along the cord-placental vascular tree. This finding implies that the absence of macroscopic cord anomalies is not a sufficient criterion to exclude reduction/interruption of fetal blood flow and cord accidents as a potential cause of stillbirth.

Conclusion: Knowing the cause of fetal death is paramount both for bereaved parents and clinicians, helping in stillbirth acceptance and future prevention strategies. Our findings show the occurrence of FVM in cases without macroscopic umbilical cord anomalies. Therefore, an in-depth placental histopathological examination is mandatory to unravel signs of fetal blood flow obstruction in cases in which umbilical cord looks grossly normal. This knowledge helps parents, and health care providers in the real identification of the pathogenesis of fetal death, as the first step for personalized future actions of stillbirth prevention.