Case Of Multiple Primary Cancer Research Articles

Validating Risk Prediction Models for Multiple Primaries and Competing Cancer Outcomes in Families With Li-Fraumeni Syndrome Using Clinically Ascertained Data.

There exists a barrier between developing and disseminating risk prediction models in clinical settings. We hypothesize that this barrier may be lifted by demonstrating the utility of these models using incomplete data that are collected in real clinical sessions, as compared with the commonly used research cohorts that are meticulously collected. Genetic counselors (GCs) collect family history when patients (ie, probands) come to MD Anderson Cancer Center for risk assessment of Li-Fraumeni syndrome, a genetic disorder characterized by deleterious germline mutations in the TP53 gene. Our clinical counseling-based (CCB) cohort consists of 3,297 individuals across 124 families (522 cases of single primary cancer and 125 cases of multiple primary cancers). We applied our software suite LFSPRO to make risk predictions and assessed performance in discrimination using AUC and in calibration using observed/expected (O/E) ratio. For prediction of deleterious TP53 mutations, we achieved an AUC of 0.78 (95% CI, 0.71 to 0.85) and an O/E ratio of 1.66 (95% CI, 1.53 to 1.80). Using the LFSPRO.MPC model to predict the onset of the second cancer, we obtained an AUC of 0.70 (95% CI, 0.58 to 0.82). Using the LFSPRO.CS model to predict the onset of different cancer types as the first primary, we achieved AUCs between 0.70 and 0.83 for sarcoma, breast cancer, or other cancers combined. We describe a study that fills in the critical gap in knowledge for the utility of risk prediction models. Using a CCB cohort, our previously validated models have demonstrated good performance and outperformed the standard clinical criteria. Our study suggests that better risk counseling may be achieved by GCs using these already-developed mathematical models.

A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

BackgroundGenetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%. This study describes a combination of rare mutations, rs746551843 in the NOTCH2 gene and rs144933006 in the SDK2 gene, in a woman with breast cancer and leiomyosarcoma without a clearly burdened family history.Case presentationA 55-year-old Caucasian woman received complex treatment on the basis of the National Medical Research Centre for Oncology for left breast cancer and leiomyosarcoma of soft tissues of the left thigh. The patient was referred for consultation with a geneticist. Among direct relatives, a maternal aunt with a history of kidney cancer was not a carrier of the studied single nucleotide polymorphisms (SNPs). The healthy son of the patient inherited both mutations.ConclusionThus, perhaps in the described case, there is a synergistic effect of two alleles of moderate and low penetrance, which led to the phenotype of multiple primary cancers.

A Case of Multiple Primary Cancers of the Colon and Liver Treated by Right Hepatic Trisegmentectomy after Laparoscopic Portal Branch Ligation

症例は82歳の男性で，血便を主訴に当院へ紹介となる．下部消化管内視鏡検査で全周性3型のS状結腸癌を認め，内視鏡の通過は困難であった．腹部造影CTで肝S4/5/8を主座とした10cm大，肝S7に5cm大の早期濃染wash outされる腫瘍を認め，肝細胞癌と診断した．S状結腸癌の切除を先行し，二期的に右三区域切除術の方針とした．腹腔鏡下S状結腸切除術の際に，腹腔鏡下門脈右枝結紮術を施行した．予定残肝容積は521mLと約17％肥大し，予定残肝容積割合63％，予定残肝ICG-K 0.072と改善を認めた．門脈結紮術後32日目に右三区域切除術を施行した．術後合併症はなく，結腸癌に対する術後補助化学療法施行中である．結腸癌および肝細胞癌の重複癌に対して，腹腔鏡下門脈右枝結紮術を施行し，右三区域切除術を施行した．本症例のように，重複癌で複数回の開腹手術が必要な場合，腹腔鏡下門脈結紮術は簡便で安全に施行可能で経皮経肝門脈塞栓術の代替の治療選択になりうると考える．

A case of multiple primary cancer of gastrointestinal tract in the elderly

A case of multiple primary cancer of gastrointestinal tract in the elderly

Multiple primary cancer: prostate cancer Т<sub>3</sub>N<sub>х</sub>M<sub>х</sub> and melanoma Т<sub>х</sub>N<sub>х</sub>M<sub>1</sub> in patient with end-stage of chronic kidney disease on peritoneal dialysis

The article describes the case of multiple primary cancer: prostate cancer Т 3 N х M х and melanoma Т х N х M 1 in patient with end-stage of chronic kidney disease, which received renal replacement therapy with peritoneal dialysis. The presented supervision demonstrates the problems of timely diagnostics of malignant tumors, in spite of the systematic monitoring a patient. The author’s purpose is intensifying of oncology vigilance from nephrologists, as prevalence of malignant new formations for patients on renal replacement therapy times higher, than in a general population.

Colorectal cancer in cases of multiple primary cancers: Clinical features of 59 cases and point mutation analyses.

The present study aimed to investigate the occurrence and clinical features of cases of multiple primary cancers including colorectal cancer (MPCC). The medical records of patients with colorectal cancer (CRC) who underwent surgery at the Third Xiangya Hospital of Central South University (Changsha, China) between August 2007 and August 2014 were retrospectively analyzed. Patients with MPCCs were identified and mutation analyses were performed on colon specimens. The results revealed that among 1,311 patients with CRC, 59 had MPCC (including 35 cases of ≥1 CRC with ≥1 other cancer type, and 24 cases with multiple CRCs and no other primary cancers). Foci occurred on the right side of the colon (n=32), in the rectum (n=28), and on the left side of the colon (n=24). MPCCs were synchronous in 24 patients, metachronous in 32 patients, and both in 3 patients. Age of onset and presence of polyps were identified as significantly different between MPCC and CRC overall (P<0.05); however, sex or adenoma incidence were not observed to differ significantly between groups. Mutation incidence rates in 26 specimens were 11.54% for KRAS proto-oncogene GTPase (KRAS) G13D, 3.85% for KRAS Q61R and 3.85% B-Raf proto-oncogene serine/threonine kinase V600E. Mutations of exon 21 of the epithelial growth factor receptor gene, including L858R and L861Q, and of KRAS G12V were not detected. In conclusion, the likelihood of occurrence of MPCC is closely associated with the age of onset and the presence of polyp(s). Routine examination of multiple systems is necessary for patients with CRC to avoid missed diagnosis and misdiagnosis. Further study is required to demonstrate the molecular mechanism of CRC in cases of multiple primary cancers.

A Case of Multiple Primary Cancer with Follicular Lymphoma

A Case of Multiple Primary Cancer with Follicular Lymphoma

Abstract 74: Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.

Abstract Current approaches to identification of cancer-predisposing alleles are primarily based on the comparison of DNA sequences between affected and non-affected individuals. Many contemporary gene-seeking studies, be it genome-wide association scans or mutation analysis of candidate genes, utilize genetically enriched cancer cases. Genetic enrichment is usually achieved by selection of patients with clinical signs of hereditary cancer predisposition, e.g. family history of the disease or presence of multiple primary tumors. We suggest that the preference towards familial vs. multiple primary cancer cases may in fact be indeed disadvantageous under certain circumstances. Let's consider for example the transmission of a recessive cancer predisposing allele (a), which has a frequency of 0.1 and a penetrance of 100%. In accordance with the Hardy-Weinberg distribution (p^2 + 2pq + q^2), only 1% of this population will be homozygous for this allele and therefore bear the at-risk genotype (aa). Notably, only 19% of cancer patients with the aa genotype will have one or both parents with the same genotype and hence report a history of cancer disease in their mother or father. Therefore, while the focus on familial cancer clustering is a powerful tool for identifying dominant predisposing mutations, the disease cases caused by the homozygous recessive at-risk alleles may be easily missed. On the other hand, non-selected patients with multiple primary tumors, being strongly enriched for cancer associated genotypes, are unlikely to have a bias towards accumulation of dominant vs. recessive alleles; in addition, a deliberate exclusion of the family history-positive patients from this group may further increase the proportion of recessively inherited cases. We considered the c.2515_2519delAAGTT mutation in a Holliday junction resolvase, GEN1, as an interesting candidate to test this hypothesis on breast cancer (BC) cases. We observed noticeably high frequency of the c.2515_2519delAAGTT frame-shift in Russian subjects, that permitted us to consider BC-predisposing impact of the homozygosity for this allele. Strikingly, we observed an overrepresentation of the c.2515_2519delAAGTT homozygotes in patients with bilateral breast cancer (biBC) versus healthy controls (11/360 (3.1%) vs. 18/1305 (1.4%); OR = 2.3 (1.02-4.75); p = 0.031). In accordance with the calculations outlined above, all patients with the biallelic c.2515_2519delAAGTT mutation belonged to the group with no evidence for the vertical transmission of the disease predisposition. The analysis of unilateral BC cases did not reveal an excess of c.2515_2519delAAGTT homozygotes (23/1851 (1.2%) vs. 18/1305 (1.4%); OR = 0.9 (0.49-1.69); p = 0.738), however this comparison lacked the power to detect the effect for a low-penetrance rare genotype. Interestingly, as in case of biBC, biallelic c.2515_2519delAAGTT genotype occurred only in patients whose mothers were not affected by this disease (21/1558 (1.3%) vs. 0/215 (0%); p = 0.087). When the data on bilateral and unilateral BC were combined, the association between the c.2515_2519delAAGTT homozygosity and the absence of BC in mother reached the formal level of statistical significance (Mantel-Haenszel p = 0.041). We acknowledge that the obtained data are insufficient to claim the BC predisposing role for the c.2515_2519delAAGTT homozygous genotype. However, this study indicates, that the consideration of patients with multiple cancers may be particularly fruitful for the identification of recessive determinants of cancer predisposition. Citation Format: Ekaterina S. Kuligina, Anna P. Sokolenko, Nathalia V. Mitiushkina, Svetlana N. Abysheva, Elena V. Preobrazhenskaya, Tatiana V. Gorodnova, Grigoriy A. Yanus, Alexandr V. Togo, Nadezhda V. Cherdyntseva, Alexey A. Larionov, Sergey G. Kuznetsov, Evgeny N. Imyanitov. Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation. [abstract]. In: Proceedings of the AACR Special Conference on Post-GWAS Horizons in Molecular Epidemiology: Digging Deeper into the Environment; 2012 Nov 11-14; Hollywood, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2012;21(11 Suppl):Abstract nr 74.

Jejunal Adenocarcinoma as Part of Metachronous Triple Primary Cancers of the Digestive Tract in Patient with Hereditary Nonpolyposis Colorectal Cancer

Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏 Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterized by onset at a relatively early age, an excess of synchronous and metachronous tumors, and a variety of extracolorectal malignancies. Small bowel carcinoma reported, is included in the tumor spectrum of HNPCC, but the frequency of occurrence of this tumor in HNPCC patients is comparatively rare. In Korea, several cases of multiple primary cancers in patients with HNPCC have been reported, however, primary jejunal adenocarcinoma in conjunction with multiple primary cancers in the digestive tract has rarely been reported. Recently, we evaluated a 61-year-old male diagnosed with metachronous triple primary cancers of the jejunum, stomach, and colon. We report this rare case of primary jejunal adenocarcinoma as a part of metachronous triple cancers along with a review of the relevant literature. (Intest Res 2011;9:158-161) 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏

A Case of Multiple Primary Cancer with Cervical Adenocarcinoma and both Ovarian Endometrioid Adenocarcinoma

A 49-year old woman visited Pusan National University Hospital with postcoital vaginal spotting and a palpable abdominal mass. Clinically, we suspected that she had barrel typed cervical cancer with ovarian cancer. Afterlaparotomy, the histologicfindingwasmultiple primary cancer with cervical adenocarcinoma and both ovarian endometroid adenocarcinoma. Concurrent primary cervical adenocarcinoma and both endometrioid ovarian cancer has not been previously presented in the literature. Accordingly, we report upon a rare case of multiple primary cancer with a brief situations.

上顎無色素性悪性黒色腫と胃癌を重複した１例

Multiple primary cancer involving amelanotic malignant melanoma and other malignant tumors rarely arises in the oral cavity. We describe a case of multiple primary cancer involving gastric cancer and maxillary amelanotic malignant melanoma. A 27-year-old man had previously undergone resection of gastric cancer. The patient was referred to our hospital because of a mass arising in the palate mucosa. A slightly depressed ulcer measuring 38×15mm was noted in the right side of the palate. The lesion was slightly tender. Most of the overlying mucosa was bright red and pigmentation was very slight. We performed a right maxillary partial excision with right radical neck dissection for a diagnosis of amelanotic malignant melanoma. There has been no local recurrence or metastasis of either gastric cancer or amelanotic malignant melanoma as of 9 years after ope

Multiple primary synchronous carcinomas of alveolus and hypopharynx

Multiple primary cancers though initially thought to be an extremely rare occurrence have been reported recently to involve various organs of body in synchronous or metachronous fashion. Aerodigestive tract is most frequently involved with such type of lesions and recent reports show its increasing incidence. A case of multiple primary cancers involving alveolus and hypopharynx is presented.

A Case of Multiple Primary Cancer Combined with Stomach Cancer and Esophageal Cancer

A Case of Multiple Primary Cancer Combined with Stomach Cancer and Esophageal Cancer

頭頚部重複癌症例の検討

Multiple primary cancers of the head and neck cancers are not rare. From 1983 to 1993, we have experienced 29 cases of multiple primary cancers in the Department of Otorhinolaryngology at the Gifu University School of Medicine. The cancers involved the maxillary region in 1 case (1.2%), nasal cavity in 1 case (5.9%), oral cavity in 4 cases (5.5%), epipharynx in 1 case (2.5%), mesopharynx in 1 case (4.2%), hypopharynx in 4 cases (6.9%), larynx in 15 cases (7.6%) and other regions in 2 cases (5.9%). Males accounted for the majority of the cases (26 of 29). The proportion of patients aged 50 to 70 years was high, and the average age was 63.0. Histologically, combinations with squamous cell carcinomas were the most common type (17 of 19). Eight cases were patients diagnosed with a second cancer upon entering our hospital. In 7 cases, the second cancer was not diagnosed until 5-10 years after the first cancer was diagnosed. These observations suggest that we must follow patients for long periods. Also, to avoid overlooking concealed cancer in the multicentric zone, upper gastro intestinal endoscopy, and chest X-ray should be used to screen patients with head and neck cancers.

口腔癌を含む多重癌１８例の検討

Multiple cancer may develop independently in one organ or double cancer may develop separately in different organs. Both types of cancer are collectively referred to as multiple primary cancer. In this study, we reviewed a series of patients with multiple primary cancer treated in our department. Here, we report the results.In the 12-year period from January 1980 to December 1991 we treated 139 patients with malignancy. Among these patients we studied 18 cases of multiple primary cancer including 4 cases of triple cancer and 2 cases of multiple cancer of the oral cavity. The patient consisted of 14 males and 4 females.Simultaneous occurrence refers to cases in which the period from the primary to secondary cancer is less than 6 months, and heterochronous occurrence refers to cases in which this interval is 6 months or longer. Only one case occurred simultaneously, and the others occurred heterochronously. Oral cancer developed in association with cancer of other organs including the oropharynx in 3 patients, the esophagus in 3, the stomach in 3, the colon and rectum in 2, the prostate in 2, the breast in 2, and the thyroid in 1. Thus 81.3% of the cases were associated with the gastrointestinal tract (13 patients) and oral multiple cancer was observed in 2 patients. In addition, 10 patients with primary cancer and 8 patients with secondary cancer visited our department. The outcome of 18 patients showed 6 survivors (33.3%) and 12 deaths (66.7%). Out of 6 survivors, 5 patients completed treatment without tumor recurrence and one patient with triple cancer is still bearing a tumor. Out of 12 deaths, 9 died due to primary disease 9 died due to unknown causes. The 9 patients who died due to primary disease consisted of one with double cancer who died of primary cancer, 5 with double cancer who died of secondary cancer, and 3 with triple cancer who died of an uncontrollable tertiary cancer.(Although one patient with triple cancer is surviving with a tumor).In conclusion, in the diagnosis, treatment, and follow-up of oral cancer, the occurrence of double cancers of other organs, in particular the gastrointestinal tract, should be born in mild and patients with such cancers should be observed carefully in close association with other medical departments.

후두, 갑상선, 위에 발생한 다발암 1례

후두, 갑상선, 위에 발생한 다발암 1례

FOUR CASES OF MULTIPLE PRIMARY LUNG CANCER

Four cases of multiple primary lung cancer were experienced at the department during the past twelve years. There were each two synchronous and metachronous cancers. Squamous cell carcinomas (SCC) were found in two cases, SCC and adenocarcinoma (AD) in one case, and adenosquamous carcinoma and AD in one case. Case 1. A 60-year-old man with SCC of the respiratory system underwent left lower lobectomy. There was a previous history of right middle and lower lobectomy seven years before. Case 2. A 67-year-old man with synchronous multiple lung cancer underwent right middle and lower lobectomy. Case 3. A 75-year-old woman had an adenocarcinoma of the left lingular segment 3 years after right middle and lower lobectomy for an adenosquamous carcinoma of the lung. As the patient refused any operation, radiotherapy was performed and she is alive bearing the cancer. Case 4. A 65-year-old man had SCCs in bilateral lower lobes due to chromium exposure. The patient underwent radiation and bronchial artery infusion, followed by left lower lobectomy. Then, laser therapy was scheduled for the lesion in the right lower lobe, however, the patient died of postoperative pneumonia. Some discussion on these cases of multiple primary cancer of the lung is presented, with a review of the literature.

口唇とぼうこうにみられた重複癌の１例

A case of multiple primary cancer affecting bladder and lips was reported. A 54-year old man was first treated for transitional cell carcinoma of the bladder (grade 2).After eleven years of this treatment, the second tumor of the lower lip appeared. This tumor was histologically diagnosed as squamous cell carcinoma (T1NOMO), and was treated by chemotherapy (Peplomycin 35 mg) and surgery (Abbe-Estlander lip operation). At present, this patient is alive and tumor-free.

頭頚部における重複癌症例の検討

Multiple primary cancers of the head and neck are not always rare. We have experienced 30 cases of multiple primary cancers in the Department of Otolaryngology, Ehime University School of Medicine from 1976 to 1989. The incidence ranged from 3.6% to 8.9% with flexible criteria. The minimum was 14 of 393 cases of all index cancers, strictly conformed with Warren's definition. The maximum was 29 of 327 cases of index cancers on the mucosal surfaces, including a combination of both head and neck cancers. In view of organic specificity of the index cancers, the incidence was high in the larynx and oral cavity, low in the nasopharynx and maxillary sinus. The concept of "multicentric cancerization" was verified by the result that 60% of the additional cancers were head and neck, esophagus and lung. During following-up studies of oropharyngeal, hypopharyngeal and laryngeal cancers, we have to examine the esophagus periodically due to high risk of occurrence of cancer. To compare the data of multiple primary cancers of the head and neck between institutions, adequate and detailed criteria should be established.

Three cases of multiple primary cancers involving the oral and the other organ

Three cases of multiple primary cancers involving the oral and the other organ