Sarcomatoid renal cell carcinoma metastatic to the breast: report of a case with diagnosis on fine needle aspiration cytology

BACKGROUND: Tumors metastatic to the breast are a rare occurrence. The correct identification is essential as there are divergent management implications. Fine needle aspiration cytology (FNAC) is an effective method of diagnosis when coupled with the judicious use of immunocytochemistry. CASE: A 50-year-old Indian woman presented with a palpable right breast lump that was clinically suspicious for malignancy. There were no contralateral breast masses or palpable axillary lymphadenopathy. There was a history of nephrectomy carried out several years earlier for renal cell carcinoma (RCC). FNAC of the right breast lump yielded malignant epithelioid and occasionally spindled cells within an inflamed background, while immunocytochemistry showed positive reactivity of tumor cellsfor CD10, with negative staining for CK7. The cytologic diagnosis favored a tumor of renal origin. The patient underwent wide central excision of the right breast lump, whereby the diagnosis of metastatic RCC with sarcomatoid features was confirmed. On follow-up, she developed metastases to multiple organ sites and died. CONCLUSION: A high index of suspicion is required in the diagnosis of disease metastatic to the breast. FNAC is a reliable diagnostic tool in the distinction of metastasis from primary malignancy of the breast.     

Extra-abdominal desmoid arising from a capsule around a silicone breast implant.

Musculo-aponeurotic fibromatosis is an extremely rare lesion in the breast, only 16 previous cases having been reported. The unilateral tumor in our patient occurred after subcutaneous mastectomy and bilateral placement of implants. The histological evidence suggests that this tumor arose from the capsule surrounding one of the implants.     

Fine needle aspiration cytology, immunocytochemistry and electron microscopy of fibromatosis of the breast. Report of two cases

Two cases of primary fibromatosis of the breast are described. The lesions were suspected to be carcinomas both clinically and mammographically. Fine needle aspiration (FNA) yielded bland-appearing isolated spindle cells associated with small groups of benign ductal cells and lymphocytes. Immunoperoxidase staining performed on the original FNA smears showed positivity for vimentin and muscle-specific actin only in the spindle cells and for cytokeratin only in the epithelial cells. Electron microscopy study of one case demonstrated the ultrastructural characteristics of well-differentiated fibroblasts and myofibroblasts.     

Fine needle aspiration of primary pleomorphic liposarcoma of the breast. A case report

BACKGROUND: Primary liposarcoma of the breast is an extremely rare lesion. Only two cases describing the aspiration biopsy findings have been reported in the literature. We report the cytologic findings in an additional case, stressing the cytologic clues necessary to distinguish this neoplasm from a primary adenocarcinoma. CASE: A 53-year-old female presented to the emergency room with bleeding from a 20-cm, ulcerating mass in the right breast. Four months earlier she had been seen at another institution, where a diagnosis of poorly differentiated carcinoma was made by aspiration biopsy. Computed tomography had been negative for metastatic disease, and the patient refused further evaluation. Aspiration biopsy of the breast mass was repeated at our institution and interpreted as consistent with a poorly differentiated carcinoma. Histologic, immunophenotypic and ultrastructural evaluation of the mastectomy specimen revealed a pleomorphic liposarcoma. CONCLUSION: With increasing utilization of fine needle aspiration to evaluate breast lesions, it can be anticipated that unusual entities, including liposarcomas, will be encountered increasingly in breast aspirates. Therefore, it is important to consider liposarcoma in the differential diagnosis of aspirates showing isolated spindle and polygonal cells with vacuolated cytoplasm, nuclear scalloping and pleomorphism to avoid a misdiagnosis of carcinoma.     

Fine needle aspiration cytology of a thyroid metastasis of metaplastic breast carcinoma: a case report

BACKGROUND: Metaplastic breast carcinoma is defined as mesenchymal and/or squamous cell components associated with ductal carcinoma. Because of the heterogeneous nature of this tumor, cytologic interpretation on fine needle aspirates can be quite challenging. This is especially true of metastatic lesions of this rare tumor type. Metastasis to the thyroid has not been previously reported. CASE: A 57-year-old woman with a history of metaplastic breast carcinoma for which she underwent mastectomy, chemotherapy and radiation therapy 2 years earlier presented with a fast-growing left thyroid mass with progressive hoarseness and dysphasia. Clinical presentation and findings from a neck computed tomographic scan were strongly suggestive of a primary thyroid malignancy. The aspirate specimen was composed of scant, highly atypical epithelial cells in a background of an abundant chondromyxoid matrix and scattered, benign follicular cells. A literature review confirmed the novelty of this case. CONCLUSION: This case emphasizes the value of clinical information and the importance of generous sampling in achieving a correct diagnosis of metastatic metaplastic carcinoma.     

Wide clinical spectrum in Zimmermann-Laband syndrome

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.     

Features of benign granular cell tumor on fine needle aspiration.

OBJECTIVE: To describe the cytomorphologic features of benign granular cell tumor (GCT) on fine needle aspiration (FNA) biopsy and discuss the differential diagnosis. STUDY DESIGN: We reviewed three fine needle aspirates of surgically confirmed benign GCT. Immunocytochemical staining for S-100 was performed on the aspirate smear in one case. RESULTS: Two GCT were thigh lesions, where lipoma and fibromatosis were the leading clinical diagnosis, and the third was a breast mass clinically suspected to be a fibroadenoma. All FNA specimens were highly cellular and composed of fairly uniform cells with eccentric, round-to-slightly oval nuclei and abundant, finely granular cytoplasm. The cells were fragile, with stripped nuclei in a background of finely granular material. Occasional cells with nuclear pleomorphism and small-but-conspicuous nucleoli were identified. There was no evidence of necrosis or mitotic activity. Rare intranuclear cytoplasmic inclusions were identified in two cases. The granular cells were immunoreactive for S-100 in the case studied. CONCLUSION: Benign GCT has a distinctive cytomorphologic appearance that permits its diagnosis on FNA. High cellularity, occasional cells with nuclear pleomorphism and prominent nucleoli are features that can be present in benign GCT. Mitotic figures and necrosis should be identified before a diagnosis of malignancy is rendered.     

Mammary radioiodine accumulation due to functional sodium iodide symporter expression in a benign fibroadenoma

The sodium iodide symporter (NIS) has been characterized to mediate the active transport of iodide not only in the thyroid gland but also in various non-thyroidal tissues, including lactating mammary gland and the majority of breast cancers, thereby offering the possibility of diagnostic and therapeutic radioiodine application in breast cancer. In this report, we present a 57-year-old patient with multifocal papillary thyroid carcinoma, who showed focal radioiodine accumulation in a lesion in the right breast on a posttherapy (131)I scan following radioiodine therapy. CT and MR-mammography showed a focal solid lesion in the right breast suggestive of a fibroadenoma, which was confirmed by histological examination. Immunostaining of paraffin-embedded tumor tissue sections using a human NIS antibody demonstrated NIS-specific immunoreactivity confined to epithelial cells of mammary ducts. In conclusion, in a thyroid cancer patient we identified a benign fibroadenoma of the breast expressing high levels of functionally active NIS protein as underlying cause of focal mammary radioiodine accumulation on a posttherapy (131)I scan. These data show for the first time that functional NIS expression is not restricted to lactating mammary gland and malignant breast tissue, but can also be detected in benign breast lesions, such as fibroadenomata of the breast.     

Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero

Fetal valproate syndrome results from in utero exposure to valproic acid. It is characterized by a distinctive facial appearence, a cluster of minor and major anomalies, and central nervous system dysfunction. We report on a child exposed prenatally to valproic acid with unusual anomalies. This patient was the first child of young parents. Mother had several generalized seizures one year before this pregnancy, and since than she took valproic acid. Pregnancy was otherwise uneventful. At birth physical examination showed generalized hypertrichosis sparing palms and soles, coarse face, gum hypertrophy, hypotonia, club feet and club hands, two annular constrictions of the right lower leg, and abnormal dermatoglyphics. Skeletal X-rays were normal. Gum hypertrophy and hypertrichosis may be part of a broader pattern of altered morphogenesis in fetus exposed to valproic acid or this patient had two conditions, fetal valproate syndrome and hypertrichosis with gum fibromatosis.     

Fibromatosis stem cells rather than bone-marrow mesenchymal stem cells recapitulate a murine model of fibromatosis

Palmar fibromatosis is a benign fibroproliferative tumor of unknown etiology, with a high rate of recurrence after excision. The offending cells of palmar fibromatosis are myofibroblasts and the cellular origin of other myofibroblasts has previously been reported to be the bone marrow. However, further clarification of the relationship between bone marrow precursors and palmar fibromatosis is required. Stem cells (SCs) are known to exist in various tissues, but whether SCs can be isolated from fibromatosis tissue is still unclear. The purpose of this study was to isolate and identify stem cells from human palmar fibromatosis, and to evaluate the differences in the differentiation and fibrogenic capacities of bone marrow stem cells (BMSCs) and fibromatosis-derived stem cells (FSCs). We found that FSCs had better fibrogenic differentiation potential than BMSCs, whereas BMSCs had better adipogenic and chondrogenic differentiation capacities. Treatment with transforming growth factor-β1 increased the expression of α-smooth muscle actin, and types III and I collagen significantly more in FSCs than in BMSCs. An in vivo study further confirmed the results of fibrogenesis and suggested that FSCs can recapitulate the fibromatosis nodule. In summary, their myofibroblastic differentiation both in vivo and in vitro makes FSCs a potential cell source for future applications in murine models of fibromatosis or fibrogenesis.     

Fine-needle aspiration biopsy cytology of cutaneous calcinosis in a 74-year-old woman with dermatomyositis on methotrexate therapy: a case report

BACKGROUND: Cutaneous calcinosis (CC) occurs in a variety of rheumatic diseases. Fine needle aspiration biopsy (FNAB) may be used in the office setting to evaluate such soft tissue lesions. For patients on methotrexate (MTX) therapy, methotrexate nodulosis (MN) should be considered in the differential diagnosis. CASE: A 74-year-old Caucasian woman with adult-onset dermatomyositis (ADM) on MTX therapy presented for evaluation of a right breast mass and multiple soft tissue nodules. FNABs of the right breast mass and a left upper extremity nodule both demonstrated benign calcified material. Six months later, the patient returned for evaluation of the persistent right breast mass and repeat FNAB revealed adenocarcinoma. Concurrently, a right hip soft tissue nodule was aspirated, demonstrating benign crystalline debris. MTX therapy was discontinued, and the patient subsequently underwent a lumpectomy of the right breast 1 month after FNAB diagnosis, displaying infiltrative ductal carcinoma. Of note, 2 months after her lumpectomy, MTX therapy was restarted and the patient continues to have adequate control of ADM symptoms with persistent, clinically benign soft tissue calcifications. CONCLUSION: Performing FNAB on soft tissue lesions can obviate needless tissue biopsies of CC in appropriate rheumatology patients, thus avoiding the risks and complications associated with more invasive procedures.     

乳腺X 线摄影癌周透亮带的影像特征及其病理基础与价值

目的:研究乳腺X线摄影癌周透亮带影像学特征,分析其病理基础及临床意义。方法:回顾性分析2010年6月-2011年10月期间我院经手术病理证实为乳腺癌患者196例,筛选出术前进行过乳腺X线摄影检查并且图像上癌周出现透亮带征象的患者共47例51个病灶,测量肿块直径、癌周透亮带宽度等,与病理大体标本切面和镜下切片进行对比研究分析。结果:双乳病灶多分布于外上象限(19/51),临床触诊病灶大小平均值约35.45±1.25 mm。乳腺X摄影观察病灶均为肿块样,影像测量病灶大小平均值约20.49±1.18 mm,与临床触诊大小之间的差别具有统计学意义(t=2.85,P<0.01);肿块周围可观察到宽窄不均透亮带,平均宽度约15.07±0.86 mm,乳腺癌癌周透亮带宽度与肿块大小之间没有显著相关性(r=0.188,P=0.186)。病理大体标本观察病灶周围包绕一圈连续的黄色脂肪组织;HE染色镜下切片观察瘤灶周围为一圈成熟脂肪细胞,局部被瘤灶边缘增生的致密结缔组织为主的毛刺分割,脂肪组织中散在分布炎性细胞,部分区域见灶状癌细胞团浸润。结论:乳腺X线摄影癌周透亮带病理基础为伴随瘤周间质反应的富含脂肪的组织层,此征象对乳腺癌的诊断、以及临床评估肿瘤浸润范围具有一定意义。     

Fine needle aspiration cytology diagnosis of a cutaneous granular cell tumor in a 7-year-old child. A case report

BACKGROUND: Granular cell tumors are neoplasms of uncertain histogenesis, although a neural origin is favored. Most reports on the cytologic features of granular cell tumors have been on lesions from the breast or respiratory tract. However, there are only a few reports on fine needle aspiration (FNA) cytologic diagnosis of cutaneous or soft tissue granular cell tumors. CASE: A 7-year-old girl presented with a skin lesion on her right forearm of one year's duration. The FNA smears showed sheets and clusters of oval to polygonal cells with an abundant amount of granular cytoplasm. Many single, scattered cells with similar morphology were seen in the background. Immunostaining for S-100 protein showed granular cytoplasmic positivity. The tumor was diagnosed as a benign granular cell tumor. The histopathology report on the excised lesion confirmed the FNA diagnosis. CONCLUSION: The cytopathologic features of granular cell tumors presenting as skin lesions are distinctive enough to allow a correct diagnosis on FNA cytology.     

Inflammatory myofibroblastic tumor of the breast. A case report

BACKGROUND: Inflammatory myofibroblastic tumor (IMT) of the breast is a very rare tumor like lesion with only 6 previously reported cases. Very little is known about the cytology of IMT. We present the fine needle aspiration (FNA) cytology of a case of recurrent, bilateral IMT of the breast and detail the clinical course, radiologic findings, morphologic appearances and immunohistochemical profile of the lesion. CASE: A 79-year-old female was initially seen in 1991 because of a suspicious mammographic abnormality in her right breast. Ultrasound-guided FNA cytology showed an unusual "inflammatory" lesion with occasional aggregates of cellular connective tissue fragments, sheets of uniform ductal epithelial cells with myoepithelial cells, spindle cells, lymphocytes and histiocytelike cells. The lesion was excised, and histology confirmed a benign process with spindle cells, lymphocytes and histiocytes. No malignant features were noted. During follow-up many new lesions appeared in both breasts, and after several FNA procedures and local excisions, bilateral mastectomy was performed at the patient's urging. She remained disease free. CONCLUSION: Although IMT of the breast has benign cytology and histology, clinically and on imaging, it resembles carcinoma. Awareness of the condition may help prevent a false diagnosis of carcinoma.     

Breast metastasis from squamous cell carcinoma of the oropharynx: a case report

Background

Breast metastases from extramammary tumors are extremely rare, the most common primary tumors being contralateral breast carcinoma, followed by lung, gynecological, gastrointestinal, melanoma, and hematological cancers. Only a few cases deriving from head and neck squamous cell carcinoma have been reported in the literature to date.

Case presentation

We report a case of a 47-year-old Caucasian woman who presented to our hospital with a solitary breast lesion in the right upper external quadrant associated with multiple bone and visceral metastases. Two years before, she had undergone radical resection of a squamous cell carcinoma of the oropharynx (stage pT2, pN1), which was followed by adjuvant radiotherapy. Breast ultrasound showed a hypoechogenic tumor lesion of 4 cm in the right upper external quadrant that was associated with multiple axillary and infra-/supraclavicular adenopathies. A positron emission tomographic scan documented multiple visceral and bone metastases with a single hypermetabolic lesion of the right breast. The results of histology and immunohistochemistry were consistent with a metastasis from a squamous cell carcinoma. The patient died of acute respiratory insufficiency 1 month after her breast metastasis diagnosis and before starting any systemic antitumoral treatment.

Conclusions

Although breast metastases are extremely rare, they should be considered in any patient with a history of cancer and confirmed by histology and immunohistochemistry because they are very difficult to distinguish from other primary breast tumors based only on clinical and radiological features. There are no standardized treatment guidelines for breast metastasis management. Surgery and radiotherapy can play a role in symptom palliation, but they do not have any relevant impact on survival, the prognosis being poor, with an estimated overall survival less than 1 year from diagnosis.

     

Wistar大鼠的自发肿瘤病变及其发生率

目的了解Wistar大鼠的各种自发性肿瘤病变及其发生率。方法致癌实验中的对照组,采用4周龄SPF级Wistar大鼠,雌、雄性大鼠各60只,实验前观察1周,常规饲料喂饲104周后处死,进行组织病理学检查。结果报告了Wistar大鼠的各种自发性肿瘤病变及其发生率。雄性大鼠中发生肿瘤的动物占49.12%,发生良性肿瘤的动物占38.60%、发生恶性肿瘤的动物占17.54%;良性肿瘤主要有垂体腺瘤(19.30%)、睾丸间质细胞瘤(5.26%)和皮下纤维瘤(5.26%);恶性肿瘤主要有鳞状细胞癌(7.02%)和淋巴造血系统肿瘤(3.51%)。雌性大鼠中发生肿瘤的动物占60.34%;发生良性肿瘤的动物占50.00%、发生恶性肿瘤的动物占15.52%;良性肿瘤主要有乳腺纤维腺瘤(25.86%)和垂体腺瘤(24.14%);恶性肿瘤主要有腺癌(5.17%)和乳腺癌(3.45%)。结论本文报告的Wistar大鼠自发肿瘤及其发生率进一步丰富了现有SPF级Wistar大鼠自发性肿瘤的数据资料,可为有关技术人员提供一定的参考和借鉴。     

Breast pathology and reduction mammaplasty

Breast cancer is the tumor with the highest prevalence and incidence in women. Reduction mammaplasty is one of the most common procedures performed in Brazil by the plastic surgeon, and it is not uncommon for the surgeon to find a breast tumor during the operation or afterward, when the histopathological report is received. In this study, 2488 patient files were reviewed retrospectively. All patients had undergone reduction mammaplasty at the senior author's private clinic (the Ivo Pitanguy Clinic) between January of 1957 and December of 2002. Resected breast tissue was examined histopathologically. The objective of this study was to verify the occurrence of breast carcinoma found accidentally postoperatively. The senior author's team performed all of the operations and the same pathologist performed every histopathological examination. The histopathological test results were divided into two groups: benign lesions and tumors. The highest frequency of breast pathology was benign lesions, and of them, 80.8 percent involved fibrocystic changes and fibroadiposity. The tumor group was subdivided into benign tumors and malignant tumors. Among the benign tumors, fibroadenoma was the one most common, in 2.2 percent. The frequency of malignant tumors was 0.5 percent of all patients. Most of the histopathological lesions were found in patients between 30 and 50 years of age. A reduced number of patients had no lesions (3.7 percent). Lack of a pathological investigation or a cursory or hurried examination of any mammary tissue by the pathologist may overlook important lesions. In the analysis of these statistics, the concept of normal breast tissue was questioned.     

Expression of antigen processing and presenting molecules in brain metastasis of breast cancer

Defects in human leukocyte antigen class I antigen processing machinery (APM) component expression can have a negative impact on the clinical course of tumors and the response to T cell-based immunotherapy. Since brain metastases of breast cancer are of increasing clinical significance, the APM component expression levels and CD8(+) T cell infiltration patterns were analyzed in primary breast and metastatic brain lesions of breast cancer by immunohistochemistry. Comparison of unpaired 50 primary and 33 brain metastases showed lower expression of β2-microglobulin, transporter associated with antigen processing (TAP) 1, TAP2 and calnexin in the brain lesions. Although no significant differences were found in APM component scores between primary breast and brain lesions in 15 paired cases, primary breast lesions of which patients eventually developed brain metastases showed lower levels of β2-microglobulin, TAP1 and calnexin compared with breast lesions without known brain metastases. The extent of CD8(+) T cell infiltration was significantly higher in the lesions without metastasis compared with the ones with brain metastases, and was positively associated with the expression of TAP1 and calnexin. Furthermore, mouse tumor cells stably transfected with silencing hairpin (sh)RNA for TAP1 demonstrated a decreased susceptibility to cytotoxic T lymphocytes in vitro and enhanced spontaneous brain metastasis in vivo. These data support the functional significance of TAP1 expression in tumor cells. Taken together, our data suggest that patients with low or defective TAP1 or calnexin in primary breast cancers may be at higher risks for developing brain metastasis due to the defects in T cell-based immunosurveillance.     

Familial cylindromatosis

Familial cylindromatosis: we report a daughter with turban tumor and her mother with cylindromatosis. The dermal eccrine cylindroma arose as small, solitary lesions on the head of the mother when she was 28 years old. The following years other tumors became apparent. She was operated on several times. The first lesions appeared on the frontal part of the scalp of the daughter when she was 23 years old. Other tumors grew on the scalp. Histopathological examination of the excised tumors showed the same lesions in both the mother and the daughter: dermal eccrine cylindromata. Family history showed that the daughter's maternal aunt had a few tumors. Dermal eccrine cylindroma should be differentiated from malignant syndromes such as basal naevoid carcinoma or metastases and from neurofibromata. The gene of familial cylindromatosis was localised to chromosome 16q12-q13 and it was proposed that this gene is a tumor supressor gene.     

Systemic sclerosis in a patient suffering from breast cancer

Scleroderma is the general disease of the connective tissue, which can be characterized by the proliferation of the connective tissue and fibrosis. According to the results of international studies scleroderma is frequently accompanied by neoplastic diseases, among which the most often occurring is the neoplastic pathology of the breast and the lungs. In May 2007, in the case of our 40-year-old woman patient the histological examination of the tumor we noticed in the left breast verified invasive carcinoma. In December 2007, after neoadjuvant chemotherapy she had a left mastectomy and then she was given postoperative irradiation, hormone therapy and trastuzumab (Herceptin) treatment, which was suspended in December 2008 due to oedema and fibrosis all over the body. In May 2009 she first visited the immunology outpatient department of our clinic, where we started her examination because of our suspicion of scleroderma and her cutaneous fibrosis symptoms, which was established on the basis of the examinations (immunoserology, body plethysmography, diffusing capacity of the lung for carbon monoxide, capillary microscopy, barium swallow) and her symptoms. She was given a conservative therapy (pentoxyphylline, amlodipine, nitroglycerin). Scleroderma arising after the neoplastic process of the breast is usually much more progressive than the primary disease. International reports also show a close correlation between breast cancer and the development of scleroderma, but its exact mechanism is not yet clear.