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Large cell neuroendocrine carcinoma in pancreatoblastoma with TP53 and SMAD4 mutations: a clinicopathologic study of a rare entity.

J Surg Case Rep

November 2024

Department of Pathology, Banner-University Medical Center, College of Medicine, University of Arizona, 1625 N Campbell Ave, Tucson, AZ 85721, United States.

Pancreatoblastoma, a rare pancreatic tumor, exhibits diverse differentiation pathways, including acinar, ductal, and neuroendocrine lineages, often with distinct squamoid nests [3]. We present a notable case of pancreatoblastoma coexisting with large cell neuroendocrine carcinoma in a 10-year-old boy, presenting with abdominal discomfort, weight loss, and lesions in the pancreas, spleen, and liver visible on imaging. A liver biopsy revealed a poorly differentiated carcinoma with neuroendocrine features, while a splenic biopsy showed acinar cell differentiation, raising possible diagnoses of pancreatoblastoma or acinar cell carcinoma.

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October 2024

Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582 Japan.

Mucoepidermoid carcinoma is the most prevalent malignancy in the salivary gland and is sporadic in the breast. Here, we report a case of breast mucoepidermoid carcinoma with a rare CREB-regulated transcription coactivator 3-mastermind-like transcriptional coactivator 2 () fusion. A 23-year-old female was admitted to our hospital with a left breast palpable mass.

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Article Synopsis
  • - This study presents the first recognized case of triple-negative breast carcinoma (TNBC) that has a PiMHEC-like phenotype, characterized by certain defining features such as high-grade morphology and specific mutations.
  • - The tumor was found adjacent to a HER2-positive invasive ductal carcinoma, showing different marker expressions and mutations, suggesting a clonal relationship between the two components.
  • - Overall, the findings indicate that a PiMHEC-like TNBC can develop from conventional invasive ductal carcinoma, potentially explaining a lack of response to typical chemotherapy treatments.
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Article Synopsis
  • Pancreatoblastoma is a rare malignant tumor primarily affecting children, but can occasionally appear in adults, complicating cytologic diagnosis because of its mixed cellular structure and the need for squamoid nests.
  • Two patients were studied: one was a 38-year-old male with pancreatic and liver lesions featuring a biphasic malignancy, while the second was a 24-year-old female with a past diagnosis related to Gardner's syndrome, showing atypical cells in lymph nodes.
  • The study also included a literature review discussing differential diagnosis and necessary tests for accurate identification of pancreatoblastoma.
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Background: Submucosal pseudoinvasion and squamous metaplasia (SM) are incidental and special morphological findings in colorectal adenomas, and both can mimic invasive carcinoma. The coexistence of these two findings further increases the risk of misdiagnosis, posing a great diagnostic challenge to pathologists. From 1979 to 2022, only 8 cases have been reported, which was extremely rare.

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