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.     

Breast cancer development in a female with Poland's syndrome

BACKGROUND: Poland's syndrome, a rare congenital anomaly characterized by a defect of the pectoralis muscles, has been reported in association with lymphoreticular malignancies and some solid tumors. CASE REPORT: We report the case of a 53-year-old woman with Poland's syndrome who developed breast cancer in the afflicted ipsilateral hypoplastic breast. FNA cytology revealed a moderately differentiated carcinoma and histology was consistent with a well differentiated invasive ductal carcinoma. CONCLUSION: Poland's syndrome can be associated with breast cancer so all females with the syndrome should be thoroughly examined for early detection of neoplasia.     

Quadruple primary malignancies of liver, bladder, lung and stomach in one patient

Multiple primary malignancies are defined as two or more malignancies in an individual without any relationship between the tumors. Because of advances in the early detection, treatment, and supportive care for cancer, the number of cancer survivors has been gradually increasing, and this has led to an increase in the possible occurrence of subsequent malignancies. Recently, there have been reports that smoking is associated with a specific genetic mutation (the tumor suppressor gene TP53), and this genetic predisposition may be related to the development of multiple primary malignancies. Here we present a rare case of quadruple primary malignancies of the liver, bladder, lung and stomach, some of which possibly linked to smoking-related TP53 mutation. Because of its extreme rarity and the clear relationship between multiple primary malignancies and smoking-related TP53 mutation, we report this case along with a review of the relevant literature.     

Surveillance in Lynch Syndrome

The major aim of surveillance in Lynch syndrome is to diagnose malignant or premalignant lesions at the asymptomatic stage by regular checkups, particularly in the large bowel. Therefore, screening for colorectal adenomas and carcinomas by regular colonoscopies is the main topic of the present review. However, it should be remembered, that primary prevention – whether through the use of chemoprevention or the promotion of a healthy life-style may form a significant part of such surveillance in the future. Observational studies indicate that the adenoma carcinoma sequence is the main pathway in the development of colorectal cancer in Lynch syndrome. A colonoscopy every 1–3 years starting at age 20 to 25 years and the removal of observed adenomas is recommended for individuals known to have Lynch syndrome associated mutations. The incidence of colorectal cancer in family branches screened this way is lower than that in past unscreened generations. The screening of other malignancies associated with Lynch syndrome is more complex. Screening for endometrial cancer has recommended previously, but no benefits have been shown in recent studies. The value of screening for other extracolonic cancers remains also uncertain.     

The liver: another organ involved in Muir Torre syndrome?

Muir Torre syndrome is a rare autosomal dominant cancer-predisposing syndrome characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies that belong to the spectrum of hereditary non polyposis colorectal cancer (HNPCC), i.e., tumors of gastrointestinal and genitourinary tracts. Hepatobiliary malignancy in association with Muir Torre syndrome has rarely been reported. Here, we describe a case of Muir Torre syndrome associated with an hepatocellular-carcinoma in a patient with a non-cirrhotic liver and an HNPCC-family with multiple cases of hepatocellular carcinoma.     

Cyclooxygenase-2 and angiogenesis in prostate cancer

Chronic inflammation has been associated with resulting in malignancies in prostate cancer patients. In the May 2005 issue of Clinical Cancer Research, a study by Wang et al. demonstrates a relationship between COX-2 expression and the local chronic inflammation within prostate cancer and the increased angiogenesis. Confirming the existence and extent of this relationship is essential in the determination of therapeutic modalities for the prevention and treatment of prostate cancer.     

Tumor lysis syndrome in extensive-stage small-cell lung cancer

Tumor lysis syndrome is a constellation of metabolic complications that occurs in the setting of treatment of hematologic malignancies. On occasion, it has been reported to occur after therapy for solid tumors associated with large tumor burdens and aggressive therapy. We herein report the rare occurrence of acute tumor lysis syndrome in a woman with extensive-stage small-cell lung cancer after cytotoxic therapy.     

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].     

Second cancers following antineoplastic therapy

The occurrence of metachronous malignancies has long been a phenomenon of interest to physicians. The problem of treatment-related malignancies has added to that interest and has contributed to the understanding of carcinogenesis. Prolonged survival of patients with previously lethal diseases is now allowing the expression of long-term toxicities of the intensive therapies being used in many disease settings. Although the oncogenic potential of the various alkylating agents may not be equivalent, they have all been implicated as causing cancer in man. Procarbazine also appears to be highly carcinogenic in man. The intensity of treatment (duration and total dose) is a significant factor in the carcinogenesis of these agents. The dose-response relationship between radiation and cancer induction is less clear, but most believe that increasing radiation exposure increases the risk of cancer in a linear fashion. The combination of intensive chemotherapy and intensive radiotherapy yields the greatest risk for treatment-related hematologic and solid malignancies. To replace effective therapy with less carcinogenic therapy of unproved effectiveness would be difficult since survival curves have not been significantly affected by the evolution of treatment-related cancers. Whether that will hold true for the adjuvant use of intensive therapy remains to be seen. Where feasible, the design of such adjuvant trials should keep the dose-response relationship in mind. If the virtual absence of metachronous leukemia in Hodgkin's disease patients treated with ABVD holds true over time, the search for noncarcinogenic combination therapy will be well worth the effort. Therapeutic options in cancer treatment currently are few, and the benefits of potentially carcinogenic chemotherapy and radiotherapy continue to outweigh the risks.     

A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families

Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in combination with other types of tumours. In a search for new putative familial breast cancer syndromes we studied Swedish families undergoing genetic counselling during 1992-2000.Four thousand families from counselling clinics in Sweden were eligible for study. Families with breast cancer only were excluded, as were families with mutations in genes already known to be associated with malignant diseases. We identified 803 families with two or more cases of breast cancer and at least one other type of cancer. The observed proportion of different types of non-breast cancer was compared with the percentage distribution of non-breast cancer tumours in Sweden in 1958 and 1999.We found tumours in the colon, ovary, endometrium, pancreas and liver, as well as leukaemia in a significantly larger proportion of the study population than in the general population in both years. These tumours were also seen among families where several members had one additional tumour, suggesting that malignancies at these sites, in combination with breast tumours, could constitute genetic syndromes. Endometrial carcinoma has not previously been described in the context of breast cancer syndromes and the excess of malignancies at this site could not be explained by secondary tumours. Thus, we suggest that endometrial carcinoma and breast cancer constitute a new breast cancer syndrome. Further investigation is warranted to categorize phenotypes of both breast and endometrial tumours in this subgroup.     

Incontinentia pigmenti, a chromosomal instability syndrome, is associated with childhood malignancy

Incontinentia pigmenti (IP) is a rare hereditary disorder that has recently been classified as a chromosomal instability syndrome. As in Fanconi anemia and ataxia telangiectasia, spontaneous and inducible chromosomal aberrations primarily of the chromatid type are increased in patients with IP. Both Fanconi anemia and ataxia telangiectasia are genetic diseases that predispose to cancer. A case report of an infant with IP and malignancy (rhabdoid tumor of the kidney) is presented, and five previously reported cases of this association are reviewed. The malignancies in all of these cases occurred before age three, whereas malignancy associated with Fanconi anemia and ataxia telangiectasia tends to appear in late childhood or in adulthood. The chromosomal instability seen with IP may increase the risk for malignancy in young children.     

Immune activation and chronic inflammation as the cause of malignancy in oral lichen planus: is there any evidence ?

The association of chronic inflammation with a variety of epithelial malignancies has been recognised for centuries. Well established examples include, among many others, oesophageal adenocarcinoma associated with chronic oesophagitis and bowel cancer associated with chronic inflammatory bowel diseases. By now no data, other than clinical observation, have been available in understanding the pathogenesis of these inflammation-related tumours. However, recent molecular studies on the relationship between solid malignancies and the surrounding stroma have given new insights. There is now enough evidence to accept that the chronic inflammatory process per se is able to provide a cytokine-based microenvironment which is able to influence cell survival, growth, proliferation, differentiation and movement, hence contributing to cancer initiation, progression, invasion and metastasis. Here it is discussed whether also oral lichen planus (OLP), being a chronic inflammatory autoimmune disease which has been clinically associated with development of oral squamous cell carcinoma, might be categorised among these disorders. With this aim, we critically reviewed and detailed the presence, in OLP subepithelial infiltrate, of inflammatory cells and cytokine networks that might act to promote squamous tumorigenesis.     

Guillain-Barre syndrome in colorectal cancer

Guillain-Barré syndrome has been reported in the setting of different malignancies. To the best of our knowledge, the association of Guillain-Barré syndrome and colorectal cancer has been reported in only two cases. As Guillain-Barré syndrome is potentially life threatening, it should be considered in the differential diagnosis of patients with colorectal cancer with neurological findings. Here we report two cases of Guillain-Barré syndrome in the setting of metastatic colorectal cancer.     

Identification of human herpesvirus 6-specific DNA sequences in two patients with non-Hodgkin's lymphoma

Human herpesvirus 6 (HHV-6) is a recently discovered virus which has not been causally linked to any particular disease. In order to investigate the possible role of this virus in the pathogenesis of lymphoid malignancies, we examined tissue samples from 117 patients for the presence of HHV-6-specific DNA sequences. Two cases of non-Hodgkin's lymphoma were found to be positive. One patient had a T cell lymphoma and a preceding history of angioimmunoblastic lymphadenopathy; the other had a B cell lymphoma occurring in the context of Sj?gren's syndrome. HHV-6 has been isolated previously from a patient with angioimmunoblastic lymphadenopathy, and viral sequences have been identified in another patient with Sj?gren's syndrome and B cell lymphoma. The relationship between HHV-6 and these conditions therefore warrants further investigation.     

Acute myeloid leukemia associated with nephrotic syndrome: case report and literature review

The hematological malignancies associated with nephrotic syndrome are mainly Hodgkin's and non-Hodgkin's lymphomas and chronic lymphocytic leukemia. Acute myelogenous leukemia (AML) has rarely been described in association with the nephrotic syndrome. The clinical course of a 44-year-old patient with AML who presented with nephrotic syndrome is described and the clinicopathologic features of the other cases reported in the world literature are reviewed. We could not find a consistent pattern regarding the subtype of leukemia, renal pathology, and temporal relationship between the nephrotic syndrome and the leukemia or the response to treatment. The present case was unique in that the clinical course of the renal disorder correlated with the course of the leukemia responding to treatment with anti-leukemic agents. We conclude that nephrotic syndrome can also be associated with AML. In some cases there is a direct causal effect of the leukemic process on the renal pathology while in others it is exerted indirectly via other complications of the malignancy or the treatment.     

Development of leukemia after doxorubicin and cisplatin treatment for ovarian cancer

Alkylating agents have been the major group of chemotherapeutic agents associated with an increased incidence of secondary leukemias. In ovarian cancer alkylating agents have resulted in a lesser, although still increased, risk of secondary malignancies. This paper reports two cases of ovarian cancer treated with cisplatin and doxorubicin (Adriamycin, Adria Laboratories, Columbus, OH), and the subsequent development of an acute nonlymphocytic leukemia and a preleukemia syndrome. This regimen does not contain alkylating agents, and has not been associated with leukemia in patients with ovarian cancer. In these two cases, abnormalities of chromosomes 5, 7, 11, and 17 are reported which have been shown to occur in therapy-related leukemia.     

Thymoma associated with malignancies may herald a hereditary cancer syndrome

Two probands with thymoma and other primary malignancies with multiple cancer patients in the family are described. Types of malignancies, pattern of pedigree and age of the patients do not match the known familial cancer syndromes. One proband was a very rare case with five discrete primary malignancies; TP53 sequencing and karyotyping did not reveal any mutations. These cases suggest thymoma associated malignancies may herald a hereditary cancer syndrome.     

HIV infection and cancer in the era of highly active antiretroviral therapy (Review)

The majority of cancers affecting HIV-infected subjects are those established as acquired immunodeficiency syndrome (AIDS)-defining: Kaposi's sarcoma (KS), non-Hodgkin's lymphoma (NHL), and invasive cervical cancer (ICC). However, other types of cancer, such as Hodgkin's disease (HD), anal cancer, lung cancer and testicular germ cell tumors appear to be more common among HIV-infected subjects compared to the general population. While not classified as AIDS-defining, these malignancies have been referred to as AIDS-associated malignancies. The mechanisms by which depressed immunity could increase the risk for cancer are unclear, except for in KS and most subtypes of NHL, where it is strictly associated with a low CD4 count. Although it remains unclear whether HIV-1 acts directly as an oncogenic agent, it may contribute to the development of malignancies through several mechanisms (e.g., infection by oncogenic viruses, impaired immune surveillance, imbalance between cellular proliferation and differentiation). Studies of the effect of highly active antiretroviral therapy (HAART) on the incidence and progression of HIV/AIDS-associated cancers provided contrasting data. While a significant decrease in the incidence of KS has been observed, HAART has not had a significant impact on NHL incidence, particularly systemic NHL, or on ICC, HD, anal cancers and other non-AIDS-defining cancers. Regardless of whether these cancers are directly related to HIV-induced immunodeficiency, treating cancer in HIV-infected patients remains a challenge because of drug interactions, compounded side effects, and the potential effect of chemotherapy on CD4 count and HIV-1 viral load. A better knowledge of viral mechanisms of immune evasion and manipulation will provide the basis for a better management and treatment of the malignancies associated with chronic viral infections.     

Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin

MYH associated polyposis is an autosomal recessive polyposis syndrome with a high risk of large bowel cancer, caused by mutations in the DNA repair gene MYH. Founder mutations have been described in different ethnic groups. Muir Torre Syndrome is the association of internal malignancies with sebaceous gland tumours; Lynch Syndrome/Hereditary Non Polyposis Cancer is the best known cause. There has been a previous report of sebaceous gland tumours in an Italian patient with MYH associated polyposis. We describe a man of Indian (Gujarati) descent who has MYH associated polyposis and multiple sebaceous adenomas of the skin.     

Cancers associated with Kaposi's sarcoma (KS) in AIDS: a link between KS herpesvirus and immunoblastic lymphoma.

Kaposi's sarcoma (KS), common among persons with acquired immunodeficiency syndrome (AIDS), is caused by KS herpesvirus (KSHV) but whether KSHV causes other malignancies is uncertain. Using linked United States AIDS and cancer registries, we measured the incidence of specific malignancies in persons with AIDS (4-27 months after AIDS onset). We identified associations with KSHV by calculating a relative risk: cancer incidence in persons with KS (all were KSHV-infected) divided by incidence in persons without KS. Using Poisson regression, relative risks were adjusted for human immunodeficiency virus risk group, gender, age, race, and calendar year. We included 189 159 subjects (26 972 with KS). Immunoblastic lymphoma was significantly associated with KS (506 cases; relative risks: unadjusted 2.44, 95%CI 2.00-2.96, adjusted 1.58, 95%CI 1.29-1.93). Only one immunoblastic lymphoma had pleura as primary site. None of 37 other specified malignancies (other non-Hodgkin lymphomas, haematological malignancies, solid tumours) was significantly associated with KS. In summary, the association of immunoblastic lymphoma with KS was specific among examined malignancies and remained significant after statistical adjustment. Our findings, and the previously demonstrated presence of KSHV in the histologically related primary effusion lymphoma, suggest that KSHV is involved in the pathogenesis of some immunoblastic lymphomas.