Breast cancer in two patients with Poland’s syndrome

Poland’s syndrome is characterized by a congenital defect of the pectoralis major associated with various types of anomalies of the ipsilateral upper extremity. Furthermore, there have been reports of Poland’s syndrome associated with malignancies such as leukemia, malignant lymphoma, and leiomyosarcoma. We describe two cases of Poland's syndrome associated with breast cancer. The first patient developed right breast cancer associated with ipsilateral breast hypoplasia, defects of the pectoralis major and minor, and syndactyly. She underwent mastectomy and dissection of the axillary nodes. The second patient had left breast cancer associated with ipsilateral breast hypoplasia, defects of the pectoralis major and minor, and syndactyly. She underwent breast-conserving surgery and dissection of the axillary nodes without irradiation of the breast. Both patients are currently alive and free of disease. Although previously there has been no evidence that links Poland’s syndrome and breast cancer, elucidating the molecular mechanism that causes Poland's syndrome may further clarify the relationship between Poland’s syndrome and malignancies.     

Poland's syndrome and gastric cancer: report of a case.

Poland's syndrome, a rare congenital anomaly characterized by pectoralis muscle defect and ipsilateral hand abnormalities, has been reported in association with various malignancies. Gastric cancer associated with Poland's syndrome has not been described previously. To our knowledge, the case of the 21-year-old man we describe herein represents the first report of Poland's syndrome associated with gastric cancer. Although previously there was no certain evidence that linked Poland's syndrome and cancer, elucidating the molecular mechanisms that cause this syndrome may further clarify the relationship between Poland's syndrome and malignancies. At least, these associations confirm the relationship between Poland's syndrome and malignancies, and require oncologic awareness.     

Breast Carcinoma Associated with Poland''''s Syndrome: One Case Report and Literatures Review

Introduction Poland's syndrome is a rare congenital anomaly,characterized by abnormalities of the chest wall,breast,spine and upper limb.The incidence of this syndrome has been estimated to be 1:30000.The pathogenesis is still uncleart[1].     

二甲基苯蒽诱发大鼠乳腺癌的组织形态学和微血管密度观察

目的:研究诱发性大鼠乳腺癌发生过程中组织形态学变化和肿瘤微血管密度(MVD).方法:Wistar雌性大鼠85只,SD雌性大鼠22只,配制浓度为10 mg/ml的二甲基苯蒽(DMBA)麻油溶液灌胃大鼠.17只大鼠8周前死亡,剩余90只大鼠从第8周开始至24周,每2周取大鼠10只活杀,观察乳腺外形,取乳腺肿块HE染色和Ⅷ因子相关抗原免疫组化染色.结果:存活8周以上的90只大鼠中,73只成功诱发乳腺肿瘤,其中乳腺良性增生11只,乳腺癌62只.乳腺癌62只大鼠中,浸润性导管癌35只,浸润性小叶癌15只,乳头状腺癌5只,其他类型肿瘤7只.乳腺癌分化程度分级为:高分化5只,中分化36只,低分化21只.乳腺癌MVD平均值为(6.53±2.71)个/高倍视野,乳腺良性增生MVD为(1.67±0.95)个/高倍视野,乳腺癌MVD显著高于乳腺增生性疾病(P<0.01).低分化乳腺癌MVD显著高于中、高分化乳腺癌(P<0.001).结论:DMBA灌胃Wistar雌性大鼠乳腺癌诱发成功率高,肿瘤分化程度与微血管密度密切相关.     

Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family.

AIMS: Hereditary non-polyposis colorectal cancer, thyroid medullary carcinoma, breast/ovarian cancer and gastric cancer/breast cancer syndrome are encountered in surgery. Some gastric cancer/breast cancer syndrome may be the result of a CDH1 germline mutation. This is the first report of CDH1 germline mutations gastric cancer/breast cancer syndrome in Chinese patients. METHODS: Peripheral blood from the proband, as well as, her first and second degree relatives was collected and CDH1 gene exon 1-16 mutations were screened. E-cadherin/beta-catenin proteins expression and histopathologic features were examined on gastric cancer/breast cancer tissues from the proband. RESULTS: A C-->T nucleotide substitution at exon 13 (mRNA 2200 locus, Accession number NM-004360) was found. This was a transition from GCC-->GCT in DNA sequence (Ala154Ala). Diffuse-type gastric cancer and infiltrating ductal breast carcinoma were present. Both tumours preserved E-cadherin/beta-catenin expression immunohistochemically. CONCLUSIONS: Familial cancer syndrome with diffuse-type gastric cancer/breast cancer proband in Chinese has a propensity of early onset during lifespan. No truncating or splice-site CDH1 mutations had been identified in this family. A silent nucleotide variation in exon 13 of the CDH1 gene may contribute to some forms of cancer susceptibility.     

代谢综合征与分化型甲状腺癌的发生及严重程度的相关性

目的:分析代谢综合征及其组分与分化型甲状腺癌的发生及严重程度的相关性。方法:收集自2020年06月至2022年06月在我院因甲状腺结节行手术治疗，术后病理确诊为分化型甲状腺癌的285例患者以及病理确诊为良性甲状腺结节的138例患者的临床资料，根据病理结果，分为良性组138例和恶性组285例；根据是否合并代谢综合征，将恶性组患者分为甲癌组156例和甲癌合并代谢综合征组129例。结果:恶性组患者BMI平均数及代谢综合征占比明显高于良性组，恶性组年龄平均数低于良性组，且存在显著性差异（P＜0.05）；甲癌合并代谢综合征组患者较甲癌组体质量指数、血压、空腹血糖、甘油三酯、肿瘤直径≥1、肿瘤位于双侧甲状腺、肿瘤多灶均高（P＜0.05），高密度脂蛋白胆固醇水平低（P＜0.05）。结论:合并代谢综合征的甲状腺结节患者恶性可能性更高，且在肿瘤直径、肿瘤位置、癌灶数量方面较未合并代谢综合征者表现出更严重的倾向，提示代谢综合征可能是影响甲状腺恶性肿瘤严重程度的危险因素。     

二甲基苯蒽诱发大鼠乳腺癌的组织形态学和微血管密度观察

目的：研究诱发性大鼠乳腺癌发生过程中组织形态学变化和肿瘤微血管密度（MVD）。方法：Wistar雌性大鼠85只,SD雌性大鼠22只,配制浓度为10 mg/ml的二甲基苯蒽（DMBA）麻油溶液灌胃大鼠。17只大鼠8周前死亡,剩余90只大鼠从第8周开始至24周,每2周取大鼠10只活杀,观察乳腺外形,取乳腺肿块HE染色和Ⅷ因子相关抗原免疫组化染色。结果：存活8周以上的90只大鼠中,73只成功诱发乳腺肿瘤,其中乳腺良性增生11只,乳腺癌62只。乳腺癌62只大鼠中,浸润性导管癌35只,浸润性小叶癌15只,乳头状腺癌5只,其他类型肿瘤7只。乳腺癌分化程度分级为：高分化5只,中分化36只,低分化21只。乳腺癌MVD平均值为（6.53±2.71）个/高倍视野,乳腺良性增生MVD为（1.67±0.95）个/高倍视野,乳腺癌MVD显著高于乳腺增生性疾病（P〈0.01）。低分化乳腺癌MVD显著高于中、高分化乳腺癌（P〈0.001）。结论：DMBA灌胃Wistar雌性大鼠乳腺癌诱发成功率高,肿瘤分化程度与微血管密度密切相关。     

细丝蛋白A在浸润性乳腺癌中的表达及意义

目的:探讨细丝蛋白 A(filamin A,FLNa)在浸润性乳腺癌组织中的表达及其与临床特征之间的关系.方法:采用免疫组织化学和FCM法检测46例浸润性乳腺癌标本中FLNa的表达情况,并统计分析FLNa表达与患者临床病理学特征的相互关系.结果:FLNa在浸润性乳腺癌组织中的表达水平随分化程度的降低而增高,中、高分化组与低分化组之间的差异有统计学意义(P<0.05);有淋巴结转移组的FLNa表达水平较无淋巴结转移组高(P<0.05).结论:FLNa表达水平与浸润性乳腺癌的侵袭和转移有关,可作为浸润性乳腺癌预后判断的辅助指标,也有望成为临床治疗的新靶点.     

The relation between superoxide dismutase in cancer tissue and clinico pathological features in breast cancer

The localization of Cu/Zn- and Mn-superoxide dismutase (SOD) in breast cancer tissue (12 papillotubular carcinomas, 21 solid-tubular carcinomas, 16 scirrhous carcinomas, 1 medullary carcinoma, 1 secreting carcinoma, 1 lobular carcinoma, 1 Paget's disease) was investigated via an immunohistochemical technique using antihuman Cu/Zn- and Mn-SOD antibodies in 10%formalin fixed-paraffin embedded thin sections. Both SODs stained strongly in the normal breast gland, but not clearly in many cancer tissues. Furthermore, Cu/Zn-SOD stained more strongly in well differentiated tubular carcinomas than in poorly differentiated tubular carcinomas. It tended to stain less in tumors which recurred or had a poor outcome, and in tumors with a diploid pattern on DNA flow cytometry. Mn-SOD staining was similar to that of Cu/Zn-SOD, but no significant differences among subgroups was found, since the incidence of positively staining tumors was too small in all groups. The intensity of SOD staining seems to change in relation to cell proliferation and differentiation in breast carcinoma, and may be a prognostic indicator, since SOD decreased in poorly differentiated carcinoma and in tumors which developed distant metastasis. Thus, the localization of SOD in breast cancer tissue can provide useful information for cancer treatment.     

The effect of thyroid hormone on the growth of thyroid cancer

Thyroid cancer is well known to be hormone sensitive as well as breast cancer, prostatic cancer, and endometrial cancer of the uterus. Various experimental results suggest that the growth regulation for thyroid cancer, as well as the normal thyroid gland, appears to depend upon the TSH (Thyroid stimulating hormone) receptor on cell membranes. Differentiated thyroid carcinoma cells possess TSH receptor, although anaplastic carcinoma cells do not; therefore suppression therapy of TSH with thyroid hormone is considered to be effective against differentiated thyroid carcinoma. It has been recognized that some recurrent differentiated thyroid cancers cause regression in size in response to treatment with thyroid hormone. But the administration of the thyroid hormone after the operation for the differentiated thyroid carcinoma does not necessarily enhance the survival rate. To analyze the difference in survival rate is very difficult because of the excellent survival rate of thyroid cancer patients after the operation. It is hoped that further clinical study and laboratory investigation about suppression in adjuvant therapy for differentiated thyroid cancer will give us a conclusive answer.     

Breast cancer in women with HIV/AIDS: report of five cases with a review of the literature

BACKGROUND: The association of human immunodeficiency virus (HIV) infection with breast carcinoma is unclear. With improved survival of HIV-infected patients due to better understanding and treatment of the disease, there is likely to be an increase in incidence of breast cancer in women with HIV infection. METHODS: The medical records of 305 patients with breast cancer seen between January 1995 and December 2000 at Harlem Hospital Center, New York, where approximately 1,000 HIV-infected patients are treated yearly, were reviewed with attention to age, breast cancer stage at presentation, and patient survival. RESULTS: Breast cancer in the five HIV-infected patients has same median age distribution, disease stage, and pathologic characteristics as in the 300 HIV-indeterminate patients. Four of the five (80%) HIV-infected women compared to 79% in the HIV-indeterminate patients presented with early breast cancer (Stages I and II). Five-year survival in the HIV-infected patients is 80%, which is similar to the observed 70% 5-year crude survival rate in the indeterminate group. CONCLUSIONS: Our results do not support the recent reports suggesting that HIV infection is associated with poorly differentiated, aggressive disease with poor survival outcome. It remains unclear if breast carcinoma is directly linked to HIV infection.     

Choroid plexus tumors in the breast cancer-sarcoma syndrome

Choroid plexus neoplasms are rare epithelial tumors of the central nervous system. A carcinoma of the choroid plexus occurred in a child from a family with the breast cancer-sarcoma syndrome (Li-Fraumeni or SBLA syndrome), an inherited condition characterized by the development of diverse neoplasms (sarcoma, breast cancer, brain tumors, leukemia, adrenal cortical carcinoma, and others). Choroid plexus carcinomas were identified in two kindreds previously reported with the syndrome. The literature contains reports of choroid plexus neoplasms occurring in families and in individuals with multiple primary tumors. Choroid plexus neoplasm may be a manifestation of the inherited proclivity to tumor development in the breast cancer-sarcoma syndrome.     

BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families

Germ-line mutations in BRCA1 and BRCA2 predispose to hereditary breast-ovarian cancer syndrome. In Finland, 21 different BRCA1/2 mutations have been identified and 14 of the mutations are founders that account for the great majority of all BRCA1/2 mutations. Our aim was to determine the prevalence of the 21 BRCA1/2 mutations in Finnish ovarian carcinoma families. Mutations were screened in 23 families with at least two cases of invasive epithelial ovarian carcinoma in the first-degree relatives. The families had been identified from a population-based series of 559 Finnish epithelial ovarian carcinoma patients. Fourteen of the families were site-specific ovarian carcinoma families, while breast cancer was present in nine families. Mutations were detected in five families: two had a mutation in BRCA1 and three in BRCA2. In one family, a novel, apparently disease-causing missense mutation in the BRCA2 gene had been identified previously. Thus, 26% of the Finnish ovarian carcinoma families were found to be BRCA1/2 mutation-positive. Strong ovarian cancer family history and early-onset breast cancer were strongly associated with BRCA1/2 mutation status; all families with three ovarian carcinoma cases or early-onset breast cancer (<50 years) were mutation-positive, whereas all families with later-onset breast cancer as well as the majority (9/11) of the site-specific ovarian carcinoma families with minor ovarian cancer history (i.e. two affected cases) remained mutation-negative.     

Risk of invasive breast carcinoma among women diagnosed with ductal carcinoma in situ and lobular carcinoma in situ, 1988-2001

BACKGROUND: Incidence rates of ductal carcinoma in situ (DCIS) and lobular carcinoma in situ (LCIS) have been rising, but little is known about which patients will develop invasive breast cancer or what types of tumors these patients may develop. METHODS: By using Surveillance, Epidemiology and End Results (SEER) data, the authors evaluated how types of invasive breast cancers diagnosed among 37,692 DCIS and 4490 LCIS patients differed and how clinical characteristics influenced subsequent breast cancer risk. RESULTS: Among DCIS patients, incidence rates of ipsilateral and contralateral invasive breast cancer were 5.4/1000 person-years and 4.5/1000 person-years, respectively; and among LCIS patients, incidence rates were 7.3/1000 person-years and 5.2/1000 person-years, respectively. LCIS patients were 5.3-fold more likely than DCIS patients to develop invasive lobular carcinomas. Women whose DCIS had comedo histologic features or was poorly differentiated had 1.4-fold and 2.0-fold elevations in ipsilateral invasive breast cancer risk. Furthermore, among DCIS patients, 20-49 year-olds and black women and Hispanic white women had 1.6, 2.7, and 2.3-fold elevated risks of Stage III/IV breast cancer compared with 50-59 year-olds and non-Hispanic whites, respectively. CONCLUSIONS: Screening young DCIS patients more frequently and improving the follow-up care of blacks and Hispanic whites with DCIS may reduce their risk of advanced-stage breast cancer. In addition, LCIS may be a precursor rather than just an ambiguous risk factor for invasive breast cancer, and, therefore, localized treatment for LCIS may be warranted. Given that incidence rates of DCIS and LCIS have been rising, investigations of these tumors should be continued to better understand their etiology and appropriate clinical management.     

乳腺癌干细胞多药耐药基因的表达及意义

Objective:To approach the expressions of MDR1 and BCRP in breast cancer stem cells and differentiated cells.Methods:The breast cancer stem calls were separated from human breast cancer primary tissues and MCF-7 by flow cytometry.Then we measured the expressions of MDR1 and BCRP with different subset cells by Realtime-PCR.Results:Contrasted with breast cancer differentiated cells,the expressions of MDR1 and BCRP in breast cancer stem calls were higher (P＜0.01),and the proportion of stem cells rose after chemotherapy (P＜0.01).Conclusion:Contrasted with breast cancer differentiated cells,breast cancer stem cells have stronger ability of clrug-resistanca with higher level of multi-drug resistance genes,and it is one of key points for chemotherapy failure of breast cancer.     

Fatty acid synthase (FAS) predictive strength in poorly differentiated early breast carcinomas

AIMS AND BACKGROUND: Many normal and human cancer tissues express fatty acid synthase (FAS), the major enzyme required for endogenous fatty acid biosynthesis. Strong expression of FAS seems to be associated with a poor prognosis. This study examines the strength of FAS and other common markers of relapse in poorly differentiated breast carcinoma. MATERIALS AND METHODS: Fifty-one patients with poorly differentiated ductal infiltrating breast carcinomas were followed up for more than 10 years. Immunohistochemical detection of FAS was associated with morphological features of the tumors, with immunohistochemical expression of c-erbB-2, cathepsin D, estrogen and progesterone receptor status and with DNA ploidy in order to detect a statistical correlation. RESULTS: The chi-square test revealed a correlation between FAS and peritumoral lymphatic vessel invasion (PLVI) (P = 0.001). Univariate analysis showed that FAS was correlated with disease-free survival (DFS) (P = 0.0001). Other prognosticators associated with DFS were PLVI (P = 0.002), estrogen (P = 0.008) and progesterone receptor status (P = 0.007). Bivariate analysis showed that FAS was a further prognostic discriminant of DFS within the ER, PgR and PLVI subsets. DISCUSSION: FAS is a reliable prognosticator of recurrence in poorly differentiated early breast carcinomas. Association of FAS with PLVI may be useful to plan a correct follow-up in patients with breast neoplasms.     

乳腺癌肿瘤干细胞标记物CD44^＋ESA^＋CD24^∧ow在非小细胞肺癌组织中的表达及其意义

背景与目的：人体各种组织都存在干细胞,肿瘤组织也存在肿瘤干细胞（tumor stem cell,TSC）。乳腺癌TSC已经被分离出来,其标记物也已被确定,但肺癌的TSC仍未被分离出来。本研究旨在探讨乳腺癌肿瘤干细胞标记物（CD44^＋ESA^＋CD24^∧ow）在非小细胞肺癌（NSCLC）组织中的表达及其意义。方法：应用免疫组织化学法检测77例NSCLC组织中CD44、ESA与CD24的表达,分析其与患者吸烟、肿瘤的大小、癌的组织学类型、组织分化程度、淋巴结转移和预后的关系。结果：77例NSCLC组织中CD44、ESA与CD24的阳性率分别为63．6％、66．2％和7,8％。低分化及未分化组CD44的阳性率明显高于高分化组,高分化组ESA的阳性率明显高于中度分化组和低分化及未分化组;腺癌组ESA的阳性率明显高于鳞癌组（P〈0．05）。CD44^＋ESA^＋CD24^∧ow标记的阳性率为36．4％,与患者吸烟、肿瘤的大小、癌的组织学类型、组织分化程度、淋巴结转移和预后无关（P〉0．05）。结论：乳腺癌肿瘤干细胞标记物（CD44^＋ESA^＋CD24^∧ow）表达与NSCLC肿瘤的大小、癌的组织学类型、组织分化程度、淋巴结转移和预后等临床病理学指标无关。     

Metastatic breast cancer from gastric and ovarian cancer,mimicking inflammatory breast cancer: report of two cases

Breast metastases from extra-mammary malignancies, especially those mimicking primary inflammatory breast carcinoma, are extremely rare. We report here two cases of inflammatory breast metastases from gastric or ovarian cancer. Both patients, who had prior advanced malignant disease, presented with unilateral breast redness and swelling with peau d’orange sign, resembling primary inflammatory breast cancer or acute mastitis. Breast biopsy revealed poorly differentiated adenocarcinoma with signet-ring cells or clear cell carcinoma in the lymphatic vessels and the parenchyma without an in situ lesion, similar to primary lesions of the stomach or ovary, respectively. Immunohistochemical staining for estrogen receptor, progesterone receptor, and gross cystic disease fluid protein 15 was of value for correct diagnosis. Since breast metastasis is a sign of poor prognosis of the primary malignant disease, the possibility of breast metastasis should be considered in appropriate patients to preclude unnecessary major surgery.     

Breast carcinoma after cancer at another site: method of detection, tumor characteristics, and surgical treatment

BACKGROUND: As the number of cancer survivors increases, so will the number of second primary cancers, including breast carcinoma after cancer at another site. Limited information is available regarding the clinical characteristics of breast carcinoma after a primary at another site. METHODS: TUMORS (The Upper Midwest Oncology Registry Services) was used to identify 937 women with breast carcinoma occurring as a second primary after a first primary at a known site other than the breast. They were compared with a sample of 1874 women with first primary breast carcinoma, frequency-matched by age to the second primary group, for method of detection, tumor characteristics, and type of surgery. RESULTS: Women with breast carcinoma after cancer at another site tended to have smaller tumors and less extensive disease than women with first primary breast carcinoma and were somewhat more likely than first primary cases to have had their breast carcinoma detected by mammogram or clinical breast exam rather than detecting it themselves. Differences in method of detection accounted for differences in tumor size and extent. Second primary breast carcinoma was less likely to be lobular or mixed ductolobular carcinoma compared with first primary breast carcinoma. Surgical treatment (mastectomy vs. breast-conserving surgery) did not differ for first and second primary breast carcinoma. CONCLUSIONS: Clinical characteristics of breast carcinoma after cancer at another site were by and large similar to those of first primary breast carcinoma. The more favorable prognostic characteristics among women with a history of cancer were accounted for by increased medical surveillance.     

Peritoneal cancer arising after total abdominal hysterectomy and bilateral salpingo-oophorectomy for cervical cancer in a patient with right breast cancer and germline mutation of <Emphasis Type="Italic">BRCA1</Emphasis> gene: a case report and literature review

Primary peritoneal carcinoma is usually advanced at diagnosis and curability is low unless the patient has a small tumor burden. Peritoneal carcinoma can occur in association with hereditary breast and ovarian cancer syndrome, which is thought to account for 5–6% of all breast cancer. Mutations of two breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for hereditary breast and ovarian cancer. Women with BRCA1/2 mutations often undergo risk-reducing salpingo-oophorectomy (RRSO) to prevent both ovarian and breast cancer. However, peritoneal carcinoma has been reported to develop after RRSO in patients with BRCA1/2 mutations. We experienced a patient with peritoneal carcinoma and inguinal lymph node metastasis after surgical resection of breast cancer and subsequent RRSO. This report describes the first case of peritoneal carcinoma arising after RRSO in a Japanese patient with BRCA1 mutation, including a review of the literature on peritoneal carcinoma associated with BRCA1/2 mutation.