scholarly journals Genetic analysis of multiple primary cancers: A case report

2020 ◽  
Vol 73 (5-6) ◽  
pp. 170-174
Author(s):  
Marko Jevric ◽  
Emilija Filipovic ◽  
Ana Krivokuca

Introduction. The occurrence of more than one primary cancer in the same patient is not very common. Multiple cancer prevalence is about 7.9% and the percentage is lower as the number of multiple primary cancers is higher. The incidence of four or more primary cancers in one patient is very rare and its prevalence is around 0.07%. Case Report. We report a rare case of a female with four histopathologically confirmed primary malignant neoplasms. The first tumor was endometrial carcinoma diagnosed at the age of 52. Three additional metachronous tumors were diagnosed as follows: left breast cancer, melanoma, and contralateral breast cancer. Extensive genetic testing was performed and 19 genes were sequenced using the next generation sequencing (BRCA1, BRCA2, ATM, BRIP1, CDH1, CHEK2, MSH2, MLH1, MSH6, PMS2, EPCAM, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53). Even with the existing indicators of genetic etiology, this case showed no pathogenic mutations in any of these genes. This indicates the existence of other underlying mechanisms such as hormonal factors, previous treatment of the primary and subsequent tumors, environmental factors, gene-gene and gene-environment interactions, as well as immunosuppression that could increase the risk for the second and subsequent malignancies. Conclusion. Detailed information on the biology of multiple primary tumors is important for both clinicians and cancer patients during medical management following primary treatment. In addition, genetic information is very important because it has future implications for both patients and their family members.

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Nataliya N. Timoshkina ◽  
Dmitry Y. Gvaldin ◽  
Ekaterina P. Omelchuk ◽  
Larisa N. Vashhenko ◽  
Tatjana V. Ausheva ◽  
...  

Abstract Background Genetic 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 presentation A 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. Conclusion Thus, 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.


2016 ◽  
Vol 38 (3) ◽  
pp. 198-201
Author(s):  
A Rusin ◽  
O V Petrosov ◽  
A I Chumak ◽  
V M Kushnir

This case report describes a rare clinical condition: metastasis of synchronous multiple primary tumors — skin melanoma and breast cancer in one axillary lymph node, confirmed with the results of clinical, morphological and immunohistochemical study of surgical material from 40 year-old woman.


2020 ◽  
Author(s):  
Mengfan Zhao ◽  
Lusha Bi ◽  
Bin Wu

Abstract Introduction Reports of synchronous multiple primary cancers in patients with breast cancer have recently been increasing because of progress in radiographic diagnostic techniques. Multiple primary cancers in patients with breast cancer mainly occur in the lung and endometrium. Case report We report a 37-year-old female patient diagnosed with synchronous double primary cancers, namely invasive ductal carcinoma of the left breast and invasive carcinoma of inferior lobe of the right lung based on the pathological examination. After MDT, we gave her both lung and breast surgery then adjuvantchemothrapy(AC-T) and EGFR-TKI (Gefitinib). We followed this patient until October, 2020, the patient was healthy and with no clinical or radiologic signs of recurrent or metastatic disease at the time of this writing.Discuss The pathogenesis of MPCs is still unclear, which is closely related to many factors, such as genetic, immune, iatrogenic, endocrine, lifestyle. The diagnosis depends on chest CT and Pathology examination. And there is no standard treatment guideline for MPCs. The specific therapy plan should be made after MDT discussion.Conclusion Multiple synchronous breast and lung adenocarcinoma in one patient dose not like metastatic carcinoma. If the treatment is in time, the patient can also get a good prognosis.


2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  

Author(s):  
Ebru Yılmaz ◽  
Nilgün Güldoğan ◽  
Aydan Arslan ◽  
Ceyda Civan

Background: Orbital metastasis of breast cancer is an unusual condition, especially in the absence of a previous diagnosis of primary breast cancer. The main MRI findings in patients with orbital metastasis are retroorbital soft tissue with thickening of extraocular muscles. Paradoxical enophtalmos secondary to fibrosis can be seen. Case Report: In this case report we present a 75-year-old female patient with left eye pain and blurred vision and retraction. Although there was no evidence of malignancy in the biopsy of the orbita; since the patient's complaints continued despite idiopathic pseudotumor treatment; mammography was recommended to rule out the possibility of breast cancer metastasis. Her mammography revealed a suspicious lesion in the left breast and proved to be pleomorphic invasive lobular cancer. Conclusion: Breast cancer metastasis should be kept in mind in women with pseudotumor -like involvement of the orbita.


BMC Cancer ◽  
2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Bo Jin ◽  
Simeng Zhang ◽  
Xin Chuang ◽  
Ping Yu ◽  
Ying Chen ◽  
...  

In Vivo ◽  
2019 ◽  
Vol 33 (4) ◽  
pp. 1313-1324 ◽  
Author(s):  
ALESSANDRO DE LUCA ◽  
FEDERICO FRUSONE ◽  
MASSIMO VERGINE ◽  
ROSARIO COCCHIARA ◽  
GIUSEPPE LA TORRE ◽  
...  

2020 ◽  
pp. 030089162097698
Author(s):  
Emma Zattarin ◽  
Francesca Ligorio ◽  
Federico Nichetti ◽  
Giulia Bianchi ◽  
Giuseppe Capri ◽  
...  

Introduction: Breast cancer in men is less common than in women and treatment recommendations are often derived from clinical trials exclusively involving women. Data on efficacy of CDK 4/6 inhibitors, which are the mainstay of treatment for hormone receptor–positive/HER2-negative advanced breast cancer, are lacking in male patients. Case report: We present a clinical case of prolonged benefit from palbociclib in combination with letrozole and LHRH analogue in a man who had previously been treated with six lines of endocrine therapies and chemotherapy regimens but was still in excellent clinical condition. Conclusions: This clinical case demonstrates that male breast cancer stands out as an endocrine-sensitive disease, which could potentially benefit from CDK 4/6 inhibitors in combination with endocrine agents even in very heavily pretreated settings of disease, underscoring both the importance of an accurate selection of patients for later treatment lines, taking into account disease history and previous treatment responses, and the peculiarity of breast cancer in men, which deserves dedicated clinical trials to tailor future recommendations.


2011 ◽  
Vol 29 (15_suppl) ◽  
pp. e11047-e11047
Author(s):  
V. D. Petrova ◽  
E. L. Sekerzhinskaya ◽  
I. A. Selezneva ◽  
T. V. Sinkina ◽  
S. A. Terekhova ◽  
...  

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1503-1503
Author(s):  
Kara Noelle Maxwell ◽  
Joseph Vijai ◽  
Jenna Lilyquist ◽  
Thomas Paul Slavin ◽  
Abha Kulkarni ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document