Dataset Information

Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.

ABSTRACT: Pure mucinous breast carcinoma (PMBC) is characterized by clusters of tumor cells floating in abundant extracellular mucin and can be classified into paucicellular (Type A) and hypercellular (Type B) subtypes. However, the clinicopathological and genomic differences between these two subtypes have not been well characterized. We retrospectively investigated the clinicopathologic features of 45 cases of surgically removed PMBC (31 Type A and 14 Type B). We also performed whole-exome sequencing (WES) in eight cases of PMBC. We found that Type B PMBC occurs at an older age and shows more aggressive clinical behavior than Type A. WES analysis revealed that HYDIN was the most frequently mutated gene in both types of PMBC. Although Type B PMBC showed a tendency toward more frequent genetic alterations, there were no statistically significant differences between the two subtypes in single nucleotide variants or insertions or deletions of bases associated with moderate or high effects. Our results provide additional evidence that PMBCs are clinicopathologically and genetically heterogeneous and lack pathognomonic genetic alterations. Further, Type B PMBC is more frequently associated with lymph node metastasis than Type A.

SUBMITTER: Yim HE

PROVIDER: S-EPMC7956951 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.

Yim Hyun Ee HE Kim Jang-Hee JH Ahn Mi Sun MS Jung Yongsik Y Roh Jin J Park So Hyun SH Kim Tae-Gyu TG Choi Jin-Hyuk JH Kang Seok Yun SY

Frontiers in oncology 20210301

Pure mucinous breast carcinoma (PMBC) is characterized by clusters of tumor cells floating in abundant extracellular mucin and can be classified into paucicellular (Type A) and hypercellular (Type B) subtypes. However, the clinicopathological and genomic differences between these two subtypes have not been well characterized. We retrospectively investigated the clinicopathologic features of 45 cases of surgically removed PMBC (31 Type A and 14 Type B). We also performed whole-exome sequencing (W ...[more]

PMID: 33732635

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Project description:Abstract Background and Aim Juvenile polyposis (JP) is a rare disease known to be associated with mutations either in SMAD4/BMPR1A. JP is known to often develop into malignant tumors, with a reported probability of 9–50%. However, the mechanisms of its carcinogenesis are not fully understood. We tried to elucidate the mechanisms of malignant transformation underlying this condition in three cases of gastric JP. Methods We selected polyps from each patient displaying varying degrees of atypia and their nearby normal polyps and compared them using immunohistochemistry, Sanger sequencing, and loss of heterozygosity (LOH) analysis of SMAD4, BMPR1A, and TP53. Results Two of the three cases were suspected of having germline SMAD4 mutations based on their familial medical histories; the remaining case was found to have a SMAD4 germline mutation following preoperative genetic testing. All three cases were shown to present with both SMAD4 positive and negative areas across each lesion, with the neoplastic lesions tending to show stronger nuclear SMAD4 expression. This expression was closely associated with the SMAD4 LOH status; however, we also noted paradoxical SMAD4 expression in the neoplastic lesions despite the biallelic inactivation of SMAD4 revealed in the genetic evaluation. Conclusions These data suggest that strong nuclear expression of SMAD4, even when seemingly paradoxical, seems to be closely associated with dysplastic polyps in JP. Complete inactivation of SMAD4 was not shown to be essential for the development of dysplastic polyps in gastric JP, and other pathways seemed to be involved in the acquisition of the malignant phenotype. Strong nuclear expression of SMAD4, even under the presence of genetic alterations, seems to be closely associated with dysplastic polyps in juvenile polyposis (JP). Complete inactivation of SMAD4 was not shown to be essential for the development of dysplastic polyps in gastric JP, and other pathways seemed to be involved in the acquisition of the malignant phenotype.

Project description:Mucinous gastric carcinoma (MGC) is a rare histological subtype of gastric cancer. The clinicopathological characteristics and CT features of MGC remain controversial. This study aimed to determine the clinicopathological characteristics and CT features of MGC. We reviewed 62 patients with MGC and 104 patients with non-mucinous gastric carcinoma (NMGC), pathologically confirmed between 2003 and 2015. There are significant differences in some clinicopathological characteristics and CT features between MGC and NMGC. NMGC occurs preferentially in males and more frequently in the lower third of the stomach. Patients with MGC were characterized by larger tumor size, more advanced tumor stages (II and III) and fewer lymphatic invasions. Layered enhancement (83.3%) was the main pattern of MGC, while the most common pattern in NMGC was homogeneous enhancement (52.6%), followed by heterogonous enhancement (34.6%). The degree of enhancement of the inner layer in MGC was significantly higher than in NMGC (ΔCT of portal venous phase: 54.57 Hu vs. 47.19 Hu, P = 0.034), while the middle or outer layer in MGC was significantly less enhanced (ΔCT of portal venous phase: 19.07 Hu vs. 33.09 Hu, P <0.001). Calcifications were more common in MGC (P <0.001). ROC curves revealed that the most effective variables in distinguishing MGC and NMGC were ΔCT of the middle or outer layer in the arterial phase (AUC=0.774) and portal venous phase (AUC=0.774), followed by the attenuation value of the middle or outer layer in the unenhanced phase (AUC=0.763). Calcifications had a high specificity (98.7%) in the diagnosis of MGC. The accuracy (86.1%), sensitivity (83.3%) and specificity (87.2%) of layered enhancement in diagnosing MGC were all high. Therefore, MGC was more likely to have larger tumor size and more advanced tumor stage (II and III) than NMGC. The thicker gastric wall, layered enhancement pattern and calcification were highly suggestive CT features for differentiating MGC from NMGC.

Dataset Information

Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.

Publications

Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.

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