PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney

We compared microvascular density (MVD), lymph vessel density (LVD), and the expression of hypoxia pathway-associated proteins between primary triple-negative adenoid cystic carcinoma of the breast (TN-ACC) and grade-matched triple-negative breast carcinomas of no special type (TNBC). Twelve TN-ACC and 15 TNBC were investigated immunohistochemically for CD31, podoplanin (D2-40), von Hippel-Lindau protein (pVHL), and hypoxia-inducible factor-1alpha (HIF-1α) protein. All cases were lymph node negative (pN0). The study revealed a median MVD (CD31) of 34 vessels/mm(2) (mean ± SD, 41.33 ± 6.5/mm(2)) in the TN-ACC subgroup and a median of 55 microvessels (mean ± SD, 54.9 ± 6.3/mm(2)) in the TNBC subgroup. The median LVD (D2-40) was 10.5/mm(2) (mean ± SD, 11.9 ± 1.5/mm(2)) in the TN-ACC subgroup and 15.0/mm(2) (mean ± SD, 16.9 ± 2.5/mm(2)) lymph vessels in the TNBC subgroup. The differences were not statistically significant (P = 0.93, P = 0.67, respectively). pVHL was detectable in all TN-ACCs whereas two cases of TNBC had less than 5% of the positive cells. HIF-1α protein expression was significantly higher in the tumor cell population than in adjacent normal cells in both subgroups (P = 0.009 for TNBC and P = 0.028 for TN-ACC, respectively), but there was no significant difference between the two tumor groups. Up-regulation of the hypoxia-induced signaling is seen in both TN-ACC and grade-matched TNBC. Despite its perceived low malignant potential, TN-ACC of the breast does not differ in the number of blood and lymphatic vessels in comparison with the grade-matched TNBC. The reported biologic differences between TN-ACC and TNBC do not appear to result from neoangiogenesis.

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“…Two of the TN-ACC cases had known distant metastases (to kidneys) [16,22]. Status of the distant metastases was not known for the TNBC group.…”

Section: Patients' Characteristicsmentioning

confidence: 99%

Angiogenesis in triple-negative adenoid cystic carcinomas of the breast

et al. 2011

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“…Most of the cases reported in the literature were diagnosed on histology. [3][4][5][6] We could establish the diagnosis on FNAC of the renal mass. One of the few cases that we came across where a pre operative diagnosis by FNAC could be established was reported by Jimenez-Heffernan et al [7] …”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8] It is a slowgrowing, but aggressive neoplasm with a remarkable capacity for recurrence. [9,10] It can arise in any salivary gland site, but approximately 50-60% develops within the minor salivary glands.…”

Section: Introductionmentioning

confidence: 99%

Adenoid Cystic Carcinoma of Parotid Metastatic To Kidney Presenting With Isolated Renal Mass Masquerading As Renal Cell Carcinoma- A Rare Case Report

Khanna¹,

Kaur²,

Singh³

et al. 2017

AIMDR

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Adenoid cystic carcinoma is a rare tumour accounting for less than 1% of all head and neck malignancies and 10% of all salivary gland neoplasms. 50% of cases have been found in minor salivary glands but are also reported in nose, sinuses, upper airway, lacrimal glands and breast. Those affected are in the age group 20-84 years (mean 52 years). Adenoid cystic carcinoma of the head and neck is relatively rare and is characterized by slow evolution, multiple recurrences, protracted clinical course, and late distant metastasis but frequently metastasizes to lung. Here, we are presenting a rare case of adenoid cystic carcinoma metastasizing to kidney and masquerading clinically and radiologically as primary renal cell carcinoma. Lymph node metastases are unusual, hematogenous spread, often to the lungs is quite characteristic, metastasis to kidney being extremely rare.

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“…cancer, 25% in glioblastomas, 21% in ovarian cancer, 13% in prostate cancer, less than 5% in breast and thyroid cancer (9)(10)(11)(12)(13)(14)(15)(16)(17).…”

Section: Discussionmentioning

confidence: 99%

“…The PTEN gene locates on human chromosome band 10q23.31, contains nine exons and encodes a 403-amino acid, dual-specificity phosphatase with homology to the cytoskeleton proteins chicken tensin and bovine auxilin, cytoskeletal proteins that interact with adhesion molecules (4)(5)(6)(7)(8). Mutations of PTEN gene have been found in a variety of human cancer cell lines and primary tumors of the endometrium, brain, prostate, breast and kidney in different frequencies (9)(10)(11)(12)(13)(14)(15)(16)(17), indicating the gene might play a role in the tumorigenesis of some cancers. Furthermore, it was reported that the PTEN gene might regulate tumor cell invasion and metastasis (8,18,19).…”

Section: Introductionmentioning

confidence: 99%

Mutation analysis of tumor suppressor gene PTEN in patients with gastric carcinomas and its impact on PI3K/AKT pathway

Tang¹

2010

Oncol Rep

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Abstract. The aim of this study was to clarify the participation of PTEN mutation in gastric carcinogenesis and its impact on PI3K/AKT pathway. All nine exons of PTEN were screened for mutations by direct sequencing in 144 patients with pathologically proven gastric carcinoma and their corresponding normal mucosae, followed by Western blotting to detect the changes in PI3K/AKT pathway. Direct sequencing indicated there were 27 cases with mutations among 144 patients consisting of 15 cases (55.6%) of missense mutation, nine nonsense mutations (33.3%), two 1-bp deletion (7.4%), and a mutation within intron 6 (3.7%). The mutation hot spots at codons 36, 75, 232 and 393 had not been observed previously, and the mutation sites in exons 3, 5, 6 and 8 were not found, suggesting that there might be some unique characteristic of PTEN inactivation mechanism in the Shanghai population. The PTEN mutation rate was significantly higher at pTMN stages III and IV than that at stages I and II (P<0.005), and it was higher in poorly differentiated gastric cancer than in well or moderately differentiated types (P<0.05). PTEN and E-cadherin protein expression in gastric cancer was significantly down-regulated comparing with that in paracancerous tissues, while the PI3K, AKT, MMP-2, MMP-9 and NF-κBp65 protein were overexpressed in cancer tissues. Our results implicated that the mutations of PTEN did not occur at a significant rate in gastric carcinoma in Shanghai, but might play a role in tumorigenesis. The mutation status of PTEN was significantly relevant to pTNM staging and degree of cell differentiation, hinting that PTEN might be a prognostic biomarker of gastric cancer. The decreased expression of PTEN and E-cadherin, together with the overexpression of PI3K, AKT, MMP-2, MMP-9 and NF-κBp65, contributed cooperatively to the accelerated progress of gastric cancer.

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PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney

Cited by 30 publications

References 18 publications

Angiogenesis in triple-negative adenoid cystic carcinomas of the breast

Angiogenesis in triple-negative adenoid cystic carcinomas of the breast

Adenoid Cystic Carcinoma of Parotid Metastatic To Kidney Presenting With Isolated Renal Mass Masquerading As Renal Cell Carcinoma- A Rare Case Report

Mutation analysis of tumor suppressor gene PTEN in patients with gastric carcinomas and its impact on PI3K/AKT pathway

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