Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology

Precision medicine in ovarian cancer: disparities and inequities in access to predictive biomarkers

2024-07-10T14:14:13+00:00

Melanoma of the external auditory canal: case report and systematic literature review

2024-07-10T14:06:33+00:00

Melanoma of the external auditory canal (EAC) is particularly rare and poorly understood, with limited available data on management and survival. This systematic review aims to analyze existing data and provide insights into the management and prognosis the beginning of EAC melanoma. It is conducted using Pubmed and Scopus databases from the beginning to July 2023 and it follows the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 guidelines. Searches are performed using the search string “(melanoma) AND (external auditory canal)”.

The review includes a total of 30 patients diagnosed with EAC melanoma, supplemented by an additional case from the authors’ clinical experience. The role of Breslow thickness as a determining factor for the choice of surgery remains inconclusive due to limited available data. Sentinel lymph node biopsy and adjuvant therapy are sparingly employed, indicating the need for standardized guidelines. Patients in the study demonstrate a 50% overall survival rate at 5 years.

EAC Melanoma is a rare and aggressive malignancy with limited therapeutic guidelines. Surgical interventions, including wide local excision and lateral temporal bone resection, are the primary treatment options for patients without distant metastases.

Concurrent presence of primary hemangioma and breast cancer metastasis within a lymph node: a case report inspired by the legacy of Professor Juan Rosai

2024-07-10T14:07:17+00:00

Secondary neoplastic lesions in lymph nodes are predominantly metastases from solid tumors, whereas primary lymph node hemangiomas are exceptionally uncommon, with only 24 well-documented cases in the literature. Histologically, they are characterized by endothelial cells that may appear flattened or enlarged, with variable vascular density, and the presence of stromal elements. Notably, the concurrent presence of a primary hemangioma and a metastasis from breast cancer – the latter being the most prevalent secondary lesion in axillary lymph nodes – represents an unprecedented observation. The unique case presented herein underscores the exceptional rarity of primary lymph node hemangiomas and demonstrates for the first time their possible coexistence with breast cancer metastasis within the same axillary lymph node. In sharing and discussing this case study, we pay homage to Professor Juan Rosai, whose work in redefining rare and complex diagnoses continues to enlighten our understanding of lymph node vascular lesions.

Pink-on-pink: hepatocellular carcinoma metastatic to oncocytic carcinoma of the thyroid

2024-07-10T14:08:30+00:00

Hepatocellular carcinoma typically metastasizes within the liver and may involve extrahepatic sites such as the lungs, adrenal glands, and bones at advanced stages. However, hepatocellular carcinoma metastasis to the thyroid is very uncommon and tumor-to-tumor metastasis from a hepatocellular cancer to a thyroid neoplasm is extremely rare. In this report, we present a case of a 70-year-old man with a hepatocellular carcinoma metastasizing to oncocytic thyroid carcinoma, emphasizing the importance of clinical history and of a multidisciplinary approach, as well as the usefulness of site-specific immunohistochemical markers, in diagnosing and managing cases of Rosai’s metastasis, especially when donor and recipient neoplasms share similar histologic features.

SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature

2024-07-10T14:09:03+00:00

The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the “other epithelial tumours of the lung” chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.

Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature

2024-07-10T14:10:41+00:00

Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of ETMR in an 18-year-old woman with DICER1 syndrome. This report confirms the important role of DNA-methylation analysis in the classification of CNS embryonal tumors and the importance of investigating somatic and germline DICER1 mutations in all CNS embryonal tumors.

Endometrial serous carcinoma with a corded and hyalinized pattern: a clinicopathological and molecular analysis

2024-07-10T14:11:06+00:00

A corded and hyalinized pattern has been described in endometrial endometrioid carcinoma. Herein, we describe a clinicopathological and molecular analysis of the first reported case of endometrial serous carcinoma with a corded and hyalinized pattern.

A 64-year-old woman underwent hysterectomy and bilateral salpingo-oophorectomy due to a 5.5 cm endometrial lesion. Histologically, the tumor was composed of a minor (20%) serous carcinoma component and a predominant corded component embedded in a hyaline-to-myxoid matrix. This component showed diffuse and strong p53 and p16 expression, heterogeneous positivity for epithelial markers and WT1, focal positivity for estrogen and progesterone receptors, retained MMR, SMARCA4/BRG1, and SMARCB1/INI1 expression, and negativity for smooth muscle, germ cell, sex cord, neuroendocrine, endothelial, and melanocytic markers and GATA3. Next-generation sequencing showed a mutation of uncertain significance in APC and no mutations in MLH1, MSH2, MSH6, PMS2, MUTYH, POLE, POLD1, EPCAM, or CTNNB1. The patient had a recurrence on the vaginal stump after 15 months.

In conclusion, endometrial serous carcinoma can show a corded and hyalinized pattern, which may represent a diagnostic challenge.

Antonio Grossich, the doctor and the irredentist

2024-07-10T14:12:11+00:00

The routine use of iodine tincture in medicine represents a turning point in the history of surgical procedures. It was the Istrian doctor Antonio Grossich (1849-1926) who first defined and applied the best formula and demonstrated to the world its superiority over other antiseptics. Although his was a life guided by medicine and the steadfast translation of his political ideals into practice, Grossich’s achievements were somewhat obscured by his active involvement in the Istrian irredentism of the first decades of the twentieth century.

Rudolph Virchow’s Upper Silesia report: the starting point for his simultaneous engagement with public health and antisemitism

2024-07-10T14:12:38+00:00

In 2023 an important anniversary took place. It regards Virchow’s report on the Upper Silesia epidemic typhus, which was associated with the death of numerous Polish peasants. It is also the starting point of Virchow’s political career and fight against antisemitism, which has reached fearful levels in academia. Antisemitism is not new, but the recrudescence following the October 7^th massacre of Jewish and not-Jewish people is appalling and recalls Virchow’s vehemence of the past a few decades before the Nazi extermination of the Shoah during the World War II.

A diagnosis you wouldn’t expect in a supraclavicular mass

2024-07-10T14:13:58+00:00