The diagnostic value of dual-phase SPECT/CT scintigraphy based on transport kinetics of 99mTc-sestamibi confirmed with histopathological findings in patients with secondary hyperparathyroidism - practical consideration.

BACKGROUND: Dual phase 99mTc-sestamibi SPECT/CT preoperative parathyroid scintigraphy (PPS) is seldom discussed in terms of the transport kinetics of the tracer. OBJECTIVES: To assess the relationship between the characteristic type of tracer transport in particular PPS and histopathological findings in patients with secondary hyperparathyroidism (sHPT). MATERIAL AND METHODS: The study comprised 27 patients (13 females and 14 males) with sHPT. Based on tracer accumulation in early phase (EP) and delayed phase (DP), the following types of accumulation for PPS(+) lesions were identified: EP(-)/ DP(+) (type I), EP(+)/DP(+) (type II), EP(+)/DP(-) (type III). EP(-)/DP(-) (type IV) lesions constituted PPS(-) group invisible in SPECT/CT. Overall, 69 lesions 59 PPS(+) and 10 PPS(-) were evaluated histopathologically. RESULTS: Among SPECT/CT PPS(+), types I, II and III occurred in 9 (15%), 49 (83%), and 1 (2%) lesions, respectively. The frequency of histopathological diagnosis of normal and abnormal (APG - adenoma or hyperplasia) parathyroid gland, as well as non-parathyroid (thyroid, lymph nodes, or fat) lesions differed significantly between type I, II, and III lesions (p = 0.036). APG histopathological diagnosis was significantly more frequent in lesions with type II uptake than in lesions with type I uptake (76% vs. 33%, p = 0.0197). Type II lesions had significantly higher odds for histopathological diagnosis of APG or NPG than type IV, PPS(-) lesions [odds ratio = 13.1 (95% CI: 2.75 to 63.27)]. CONCLUSIONS: For SHP patients evaluated with SPECT/CT PPS accumulation type I is a weak premise for surgeon to find parathyroid pathology. Only persistent 99mTc-sestamibi accumulation in both phases - equivocal with accumulation type II - effectively differentiates parathyroid and non-parathyroid lesions as well as indicates with high probability the presence of adenoma or hyperplasia. Type III consistent with washout pattern is rare in sHPT.

Semi-quantitative method for the assessment of focal lesions in parathyroid scintigraphy with relation to histopathology: a prospective study.

BBACKGROUND: The aim of this paper was to analyse our own semi-quantitative method of assessing focal lesions localised in pre-operative diagnostic scintigraphy of primary hyperparathyroidism (PHPT) using 99mTc-MIBI with washout and comparing these data with the result of the histopathological examination (HP). MATERIAL AND METHODS: A total of 40 (37 female, 3 male, average age 58.7 years) patients with a suspicion of PHPT were enrolled for prospective analysis. Dual phase planar and SPECT/CT examination with 99mTc-MIBI were performed. The tumour to background ratios in the 10th and 120th minute were calculated (TBR10 and TBR120) on the basis of the planar acquisition. PTH, ionised calcium and phosphate levels were measured. Parathyroid surgery alone or combined with subtotal/total thyreoidectomy was conducted in 23 (57.5%) and 17 (42.5%) patients, respectively. A HP was performed in all patients. RESULTS: Average concentration of PTH in the whole group was 243.95 pg/ml. There was a statistically significant correlation between medians of PTH concentration and parathyroid histopathological results (p = 0.01). A total of 45 lesions of increased uptake were found in 32 (80.0%) and 34 (85%) patients in the early phase and the delayed phase, respectively. The post-operative material contained 20 (44.5%) parathyroid adenomas, 11 (24.5%) cases of hyperplasia, 2 (4.4%) cancers, 4 (8.9%) cases of normal parathyroid tissue, 2 (4.4%) lymph nodes and 6 (13.3%) cases of thyroid gland tissue. The medians of TBR10 and TBR120 for lesions examined in the HP were respectively: 3.64 and 2.59 for adenoma; 3.08 and 2.18 for hyperplasia; 7.7 and 5.5 for parathyroid cancer, 4.89 and 3.16 for normal tissue and 5.26 and 2.95 for lymph nodes or thyroid gland tissue. A high correlation coefficient of TBR10 to TBR120 in the parathyroid adenoma and parathyroid hyperplasia groups was observed with r = 0.867 and r = 0.964, respectively. The ρr correlation coefficient of TBR10 to TBR120 for normal parathyroid was 0.4. There was a statistically significant association between the HP and TBR10 medians (p = 0.047), but not between histopathology and TBR120 medians (p = 0.840). CONCLUSIONS: The washout technique in pre-operative 99mTc-MIBI scintigraphy is effective in detecting lesions of the parathyroid (cancer, adenoma, hyperplasia, normal tissue of the parathyroid). Parathyroid cancers in semi-quantitative analysis were characterised by a slightly higher TBR. However, it is impossible to differentiate lesions based on this data. Histopathology results are significantly associated with TBR and PTH.

Pulmonary benign metastasizing leiomyoma from the uterine leiomyoma: a case report.

BACKGROUND: Benign metastasizing leiomyoma (BML) is a rare condition described as multiple well-differentiated leiomyomas at sites distant from the uterus. Apart from lungs it has also been reported in lymph nodes, heart, brain, bone, skin, eye and spinal cord. We present a case of pulmonary benign metastasizing leiomyoma in a female patient admitted to our hospital with suspicion of left adnexal tumor. CASE REPORT: A 45-year-old woman was referred to our hospital with suspicion of left adnexal tumor. The control transvaginal ultrasound examination performed at admission to the Gynecological Department excluded adnexal neoplasm. However, a large amount of fluid within the Douglas pouch raised the oncological concern. The patient underwent myomectomy in 2005. In the same year she was diagnosed with multiple lung nodules and underwent pulmonary wedge resection with the diagnosis of pulmonary benign metastasizing leiomyoma being stated. The decision of reevaluation of the specimen, control CT and puncture of the Douglas pouch fluid was made. Computed tomography performed at the Department of Diagnostic Imaging and Interventional Radiology of the Pomeranian Medical University Hospital revealed multiple, bilateral nodules. The microscopic examination of the samples confirmed the initial diagnosis of benign metastasizing leiomyoma with no evidence of neoplastic cells within the fluid. CONCLUSIONS: Pulmonary benign metastasizing leiomyoma is a rare entity. However, it should be always taken into consideration in women with a previous or coincident history of uterine leiomyoma, especially when no evidence of other malignancy is present.

Conservative treatment of a young patient with thyroid carcinoma in adult ovarian teratoma - case report.

The cystic mature teratomas, including dermoid cysts, are one of the most frequently occurring benign ovarian tumors diagnosed in female patients. The process of neoplastic transformation in mature dermoid cysts is applicable only to 1-2% of cases. In our article, we present a rare case of thyroid carcinoma development in adult teratoma in 21-year-old patient. The young age, certain pathomorphological features and clinical data (small size of neoplastic lesion, correct values of tumour markers, unilateral character, regular levels of thyreoglobulin and absence of any significant deviations in imaging examinations), were the basis for attempting to apply the conservative treatment both in the scope of gynecological surgery and in the supplemental endocrinological therapy. In the patient, the one-sided adnexectomy was performed, considering pathological lesions on the adnexa, as well as the other ovary dermoid cyst was enucleated, without the hysteroctomy procedure. Considering the lack of any morphological lesions and functional changes relating to thyroid gland, the treatment was not radicalised in this scope, either. At present, one year after the primary operation treatment, the patient does not manifest any disease symptoms, whereas the other ovary, in the follow-up ultrasound examinations, shows normal size and echostructure. The thyroid-stimulating hormone (TSH) suppression keeps being applied.

A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

BACKGROUND: Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis. Mutations of the BLM gene cause another chromosomal instability clinical syndrome, called Bloom syndrome. Recently, a recurrent truncating mutation of BLM (Q548X) has been associated with a 6-fold increased risk of breast cancer in Russia, Belarus and Ukraine, but its role in prostate cancer etiology and survival has not been investigated yet. METHODS: To establish whether the Q548X allele of the BLM gene is present in Poland, and whether this allele predisposes to poor prognosis prostate cancer, we genotyped 3337 men with prostate cancer and 2604 controls. RESULTS: Q548X was detected in 13 of 3337 (0.4%) men with prostate cancer compared to 15 of 2604 (0.6%) controls (OR=0.7; 95% CI 0.3-1.4). A positive family history of any cancer in a first- or second-degree relative was seen only in 4 of the 13 (30%) mutation positive families, compared to 49% (1485/3001) of the non-carrier families (p=0.3). The mean follow-up was 49months. Survival was similar among carriers of Q548X and non-carriers (HR=1.1; p=0.9). The 5-year survival for men with a BLM mutation was 83%, compared to 72% for mutation-negative cases. CONCLUSIONS: BLM Q548X is a common founder mutation in Poland. We found no evidence that this mutation predisposes one to prostate cancer or affect prostate cancer survival. However, based on the observed 0.6% population frequency of the Q548X allele, we estimate that one in 100,000 children should be affected by Bloom syndrome in Poland.

[Primary intraocular lymphoma--2.5 year follow-up]. / Pierwotny chloniak wewnatrzgalkowy--opis pacjenta w obserwacji 2,5-letniej.

PURPOSE: To present clinical manifestation, diagnosis and treatment of a patient with the primary intraocular lymphoma at 2.5 year follow-up. PATIENT AND METHODS: Phaco-PPV with silicone oil tamponade was performed in a 62 year old man with a diagnosis of recurrent bilateral uveitis of unknown etiology complicated by cataract. The creamy-yellow infiltrates were identified and aspirates were collected for immunocytochemical evaluation during the surgery--B-cell lymphoma was diagnosed. The results of additional tests--hematologic workup, head and orbit neuro-imaging--were within normal limits. The patient has been treated with regular intraocular injections of Methotrexate at a dose of 400 microg/0.1 ml to both eyes for 2.5 years. Regular routine ophtalmic examinations were performed during the said follow-up period. RESULTS: The lymphocyte infiltrations in both eyes regressed during therapy. The best corrected distance VA remained stable and was 0.2 in RE and 0.3 in LE (Snellen). The intraocular pressures and anterior segments in both eyes were normal. The new small lymphocyte infiltrates were observed in the fundi and were successfully treated with additional Methotrexate injections. Methotrexate treatment was augmented with a single laser endophotocoagulation in the LE and 2, 3-time argon laser photocagulation in both eyes. To date, there no systemic symptoms of the disease have been observed. CONCLUSIONS: Local chemotherapy with Methotrexate may be an effective and safe treatment of primary intraocular lymphoma. However, due to high potential for systemic and local spread, patients should be monitored on a regular basis by ophthalmologists and oncologists.

Reed-Sternberg cells in classical Hodgkin lymphoma in children seem to be predominantly oestrogen receptor α negative and oestrogen receptor ß positive.

Oestrogen receptor α (ERα) is responsible for activation of gene transcription, while oestrogen receptor ß (ERß) serves as a negative regulator of ERα function. Since ER status is a prognostic and predictive factor in some cancers, we analysed the immunohistochemical expression of ERα and ERß in Reed-Sternberg (RS) cells in paraffin-embedded lymph node specimens from 27 children with classical Hodgkin lymphoma (HL) in relation to histological type, clinical stage, age, and gender. Percentage of RS cells with positive nuclear reaction for the presence of ERα and/or ERß was assessed. ERα positive RS cells were present in 11% (3/27) of lymph nodes (range 1-8%, mean 0.4%) whereas ERß positive RS cells were detected in 96% (26/27) of lymph nodes (range 1-97.5%, mean 61.8%). The highest percentage of ERß positive RS cells was observed in patients with the most advanced (IVB) disease as compared to patients with lower stages (90.3% vs. 56.9% respectively, p = 0.004). To the best of our knowledge this is the first report on the expression of ERß in RS cells in children. We conclude that RS cells in classical HL in children seem to be mainly ERß positive and ERα negative.

Thyroid fine-needle aspiration biopsy: which lesions should be biopsied before 131I therapy?

INTRODUCTION: Suspicion of a neoplasm is one of the contraindications to radioiodine therapy in benign thyroid disease. The aim of this study was to present an optimal qualification scheme for fine-needle aspiration biopsy (FNAB) to rule out neoplastic lesions prior to radioiodine therapy. MATERIAL AND METHODS: 4207 patients with hyperthyroidism were referred for 131I therapy in 2000-2006. Prior to 131I therapy, all patients underwent thyroid function assessment, radioiodine uptake, scintigraphy, and ultrasound. Fine-needle aspiration biopsy with cytology was done in 578 (13.7%) patients. Therapeutic radioiodine was administered to 3564 (84.7%) patients. RESULTS: Malignancy was confirmed or suspected in 12 female patients (0.28% of all patients and 2.07% of patients who underwent FNAB). Prior to the study, cytology was done in only one patient. The diameter of the lesions was 6-28 mm. Cytology confirmed papillary carcinoma in 4 patients, follicular tumour in 6, and Hürthle's cell tumour in 1. There were indications for histopathology in one patient due to the presence of atypical cells. The primary diagnosis was toxic nodular goitre in 8 patients and Graves' disease in 4 patients. One of the patients with follicular tumour was referred for radioiodine therapy due to intolerance to thyrostatic drugs, elderly age, and comorbidities. CONCLUSIONS: 1. Thyroid scintigraphy prior to therapy is important for the choice of the site of FNAB. 2. Thyroid lesions in patients with nodular Graves' disease must be carefully investigated to exclude malignancy. 3. Preselection of patients for treatment of benign thyroid disease should be followed by cytology of the lesions at the Department of Nuclear Medicine.

[Accelerated postoperative radiotherapy in patients with advanced larynx cancer]. / Przyspieszona pooperacyjna radioterapia u chorych na zaawansowanego raka krtani.

AIM: The aim of study was test efficacy of accelerated postoperative radiotherapy--concomitant boost in patients with advanced larynx cancer. METHODS AND MATERIALS: The prospective study included 112 patients with advanced larynx cancer after radical surgical treatment. Patients had postoperative radiation therapy, conventional (C) or accelerated (CB). RESULTS: The 3-year overall survival in CB was 59%, in C--58% (p = 0.2), 3-year locoregional control in CB--83%, in C--75% (p = 0.01), the 3-year disease free survival was in CB--72%, C--66% (p = 0.1). CONCLUSION: Concomitant boost postoperative radiation therapy did not improve overall survival, loco-regional control, disease free survival. Patients with close surgical margins, longer interval between surgery and radiation, high level of hemoglobin, T4 had benefit from accelerated radiotherapy.

The occurrence of malignant thyroid lesions in patients after radioiodine treatment due to benign thyroid diseases.

INTRODUCTION: Radioiodine treatment (RT) of benign thyroid diseases is a well-known, safe, and effective treatment. In a group of patients after RT, who remained in long-term follow-up, sporadic cases of malignant thyroid lesions occurred. The aim of the study was to estimate how often it happened despite the exclusion of malignancy before RT. MATERIAL AND METHOD: A group of 4314 patients (7438 person-years) underwent RT and subsequently were followed-up for 1-8 years (mean 20.69 months). Apart from thyroid function estimation, if needed, fine needle aspiration biopsy (FNAB) of the thyroid or neck focal lesions was performed based on ultrasonographic or clinical examination. Patients with pathological FNAB were analyzed and histopathologically verified. RESULTS: In 12 out of 4314 cases (0.27%) suspicious FNAB results were found. Suspicious thyroid lesion results were found in 9 patients (8 F, 1 M), aged 46-73 (average 56 years) followed up for 3-57 months after RT: papillary cancer in two patients, Hürthle cell tumour in one patient, and suspicious cells in two patients (with benign lesions on postoperative histopathology). Two patients refused surgery (a suspicion of papillary cancer in one case and suspicious cells in FNAB in the second case). A follicular tumour in FNAB was suspected in two cases (no data about the first, and the second with lung cancer was not operable). In the remaining 3 cases FNAB revealed lymph node metastases due to other cancers. CONCLUSIONS: Malignant thyroid lesions in patients after RT due to benign thyroid diseases are seldom detected. However, periodical clinical and ultrasonographic evaluation is recommended.

Rhinoscleroma: a case report.

Rhinoscleroma is a chronic inflammatory disease in which granulation tissue with a typical cell content is found. The paper presents the case of a 77-year-old woman with clinically diagnosed nodule in the nasal cavity. The histopathological examination revealed granulation tissue with plasma cells and Mikulicz's cells. The clinical and morphological picture of the case in question is a rare opportunity to bring to mind a disease that used to be common in Poland and which clinically can imitate malignant tumour.

Nuclear thymidylate synthase expression in sporadic colorectal cancer depends on the site of the tumor.

Colorectal carcinoma (CRC) is a heterogeneous disease with specific epidemiological, pathological, molecular, and clinical characteristics that depend on the location of the tumor relative to the splenic flexure. Thymidylate synthase (TS) is a major target of 5-fluorouracil-based chemotherapy for CRC and high expression of this enzyme in tumor cells can influence the effect of therapy. We examined differences in TS protein expression in nuclei of tumor cells between CRCs located proximal and distal to the splenic flexure. Nuclear TS was detected by immunohistochemistry with a TS 106 monoclonal antibody on tissue microarrays constructed from 269 CRCs. The median histological score of nuclear TS expression of all proximal tumors was two times higher (p = 0.0003) and in men three times higher (p = 0.00023) than that found in distal tumors. In multivariate analysis which included age, sex, Astler-Coller stage, histological grade, and site, only proximal location of the tumor was identified as an independent factor associated with higher TS expression (odds ratio 2.46, 95% confidence interval = 1.29-4.70, p = 0.0062). These results demonstrate significant differences in nuclear TS expression between proximal and distal cancers and suggest the potential importance of the site of the tumor for proper stratification of patients for chemotherapy.

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology.

The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes-99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.

Presence of homozygous KIT exon 11 mutations is strongly associated with malignant clinical behavior in gastrointestinal stromal tumors.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of gastrointestinal tract. GISTs range from benign indolent neoplasms to highly malignant sarcomas. Gain-of-function mutations of tyrosine kinase receptors, KIT or PDGFRA, have been identified in most GISTs. In this study, we report 36 GIST patients whose tumors had homozygous KIT exon 11 mutations detected by direct sequencing of PCR products. Loss of heterozygosity in KIT locus and other chromosome 4 loci were documented in majority of these tumors. However, fluorescence in situ hybridization with KIT locus-specific probe and chromosome 4 centromeric enumeration probe showed no evidence of KIT hemizygosity in a majority of analyzed cases. These findings are consistent with duplication of chromosome 4 with KIT mutant allele. Homozygous KIT exon 11 mutations were found in 33 primary tumors and 7 metastatic lesions. In two cases, shift from heterozygosity to homozygosity was documented during tumor progression being present in metastases, but not in primary tumors. Among primary GISTs, there were 16 gastric, 18 intestinal and 2 from unknown locations. An average primary tumor size was 12 cm and average mitotic activity 32/50 HPFs. Out of 32 tumors 29 (90.6%) with complete clinicopathologic data were diagnosed as sarcomas with more than 50% risk of metastatic disease, and 26 of 29 patients with follow-up had metastases or died of disease. An average survival time among pre-imatinib patients, who died of the disease was 33.4 months. Based on these findings, we conclude that presence of homozygous KIT exon 11 mutations is associated with malignant course of disease and should be considered an adverse prognostic marker in GISTs.

[Occurrence of malignant lesions in patients referred to 131I therapy due to benign thyroid diseases]. / Analiza wystepowania zmian nowotworowych w tarczycyu pacjentów kierowanych do leczenia 131I w przebiegulagodnych chorób tego gruczolu.

INTRODUCTION: (131)I therapy should be performed after exclusion of any morphological pathology that needs surgery--usually malignancy or its suspicion. The aim of the study was to evaluate the range of this problem in patients considered for radioiodine therapy due to benign thyroid diseases. MATERIAL AND METHODS: In 2000-2005 year 3663 patients with hyperthyreosis were referred to (131)I therapy. All patients were subjected to routine procedure which comprised of thyroid function assessment, radioiodine uptake, thyroid scan, ultrasound examination. In 505 (13.8%) patients according to indications fine needle biopsy (FNAB) with cytological examination was performed. (131)I therapy dose was given to 3083 (84.2%) patients. RESULTS: Eight patients (1.6%) were positive or with suspicion of malignancy on FNAB. All but one had no cytological examination before referral. The diameter of the lesions ranged from 6 to 28 mm. Cytological diagnosis was: in 3 patients--ca papillare, in 3--follicular tumour, in 1--Hürthle'a cell tumour, and in one patient histopathological examination was required without definitive cytological diagnosis. In six patients primary diagnosis was toxic nodular goiter, in three patients Graves' disease. CONCLUSION: 1. Obtained data underline the need for bigger malignancy alert of nuclear medicine physicians during qualification of patients for (131)I treatment despite of patients preselection by referring doctors. 2. Performing FNAB is a very important part of qualification to radioiodine treatment. 3. Thyroid scan is supportive in choosing a proper place for FNAB.

Gastrointestinal stromal tumors. A multicenter experience.

The report presents 200 cases of gastrointestinal stromal tumors (GIST). The material originated from six diagnostic centers in Poland and was reclassified according to the current criteria. Among lesions other than GISTs, 14 were identified as smooth muscle tumors and seven as neural tumors. GISTs were located in the stomach (51-63.3% of the investigated series), small intestine (27.4-33.8%), colon (approximately 4.5%), abdominal cavity, i.e. in the peritoneum and omentum (6%), and in the retroperitoneal space (2.5%). A slight predominance of women was noted (53-56%). The age of the patients ranged between 14 and 93 years of life, with the mean age of 62.4 years. Individuals younger than 45 years of age accounted for 10% of the group. In ten patients (five of them less than 45 years of life), multiple tumors were detected, their number ranging from two to less than 20; these individuals constituted 5% of the entire series. Moderately and highly aggressive tumors predominated. In the series, when multiple tumors were excluded, a total of 24 epithelioid GISTs (12%) were observed; of this number, 13 were situated in the stomach, six--in the small intestine, two--in the abdominal cavity and another two in the retroperitoneal space. Synchronic tumors observed in patients with GISTs were seen in seven patients, including an adenocarcinoma of the colon, two adenocarcinomas of the stomach, a carcinoid tumor of the small intestine, a pheochromocytoma of the retroperitoneal space, an anaplastic lymphoma and a disseminated squamous cell carcinoma. In immunohistochemical reactions (CD117, CD34, SMA, S-100, DES), attention was focused on the immunoreactivity of small GISTs, below 2 cm in size, and of multiple tumors. Immunohistochemical reactions were equally differentiated as to their presence and intensity in small tumors and in highly aggressive lesions above 5-10 cm in size. In multiple GISTs, immunohistochemical tests strongly indicated the heterogeneity of neoplastic cells, which, nevertheless, showed no consistent association with the location of the tumor, its aggressiveness, cellular structure or a tendency to form multiple foci.

The 3020insC allele of NOD2 predisposes to early-onset breast cancer.

The NOD2 gene has been associated with susceptibility to Crohn's disease, and more recently with carcinoma of the colon as well. NOD2 is involved in the inflammatory response and the activation of the NFkB pathway. The range of cancer types associated with NOD2 has not been well studied. The 3020insC allele results in a truncated NOD2 protein and is present in approximately 7% of the population. We studied a possible association between the 3020insC allele of the NOD2 gene and breast cancer using 462 cases and 1910 controls from Poland. Patients were diagnosed with invasive breast cancer at are of two Szczecin regional hospitals between 2002 and 2004. Pathology specimens were reviewed for histological subtype and for the presence of ductal carcinoma in situ (DCIS). Overall there was no association between breast cancer and NOD2 (OR = 1.1; p = 0.76), but significant associations were observed between the presence of the allele and early-onset breast cancer (OR = 1.9; p = 0.01) and between the allele and ductal breast cancer with an in situ component (OR = 2.2; p = 0.006).