Fibromyalgia syndrome after comprehensive treatment of breast cancer is rare and seldom reported. Here we present a case of a 50-year-old female patient,who was admitted to the hospital because of generalized fibromyalgia for 3 months and brain metastasis after the right breast carcinoma surgery for 1 month, and the clinical diagnosis was brain metastasis from breast carcinoma combined with fibromyalgia syndrome. The fibromyalgia were relieved with proper symptomatic treatment but the patient eventually died of tumor progression.
Brain Neoplasms ; mortality ; secondary ; Breast Neoplasms ; complications ; mortality ; therapy ; Carcinoma ; mortality ; therapy ; Female ; Fibromyalgia ; diagnosis ; etiology ; therapy ; Humans ; Middle Aged

Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like syndromes (LFL). Germline missense mutations of TP53 are the primary cause of LFS and LFL. Mutations mostly reside in the DNA-binding domain of the gene and have a dominant-negative effect (DNE) over alternate wild-type alleles. Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. Herein we report a second case of the same mutation in a breast cancer patient, who has familial history of late-onset malignancies. Due to the relatively late onset of malignancies, neither case fulfils previously defined criteria for the syndrome. Mutational analysis for breast tissue in this patient showed a loss of heterozygosity. These clinical features may suggest a relatively weak DNE of A189V compared to other TP53 mutations, and in silico predictions and in vitro findings of the function of A189V mutant protein are conflicting. Considering the increased risk of malignancies and the therapeutic implications for patients who have a TP53 mutation, care must be taken when treating those who are suspected of possessing cancer-prone traits due to TP53 mutation, especially when there is a family history of late-onset cancer with low penetrance.
Adolescent ; Adult ; Breast Neoplasms/complications/*diagnosis/therapy ; Combined Modality Therapy ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Li-Fraumeni Syndrome/complications/*diagnosis/therapy ; Middle Aged ; Multimodal Imaging ; Mutation, Missense ; Pedigree ; Sequence Analysis, DNA ; Tumor Suppressor Protein p53/genetics ; Young Adult

Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like syndromes (LFL). Germline missense mutations of TP53 are the primary cause of LFS and LFL. Mutations mostly reside in the DNA-binding domain of the gene and have a dominant-negative effect (DNE) over alternate wild-type alleles. Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. Herein we report a second case of the same mutation in a breast cancer patient, who has familial history of late-onset malignancies. Due to the relatively late onset of malignancies, neither case fulfils previously defined criteria for the syndrome. Mutational analysis for breast tissue in this patient showed a loss of heterozygosity. These clinical features may suggest a relatively weak DNE of A189V compared to other TP53 mutations, and in silico predictions and in vitro findings of the function of A189V mutant protein are conflicting. Considering the increased risk of malignancies and the therapeutic implications for patients who have a TP53 mutation, care must be taken when treating those who are suspected of possessing cancer-prone traits due to TP53 mutation, especially when there is a family history of late-onset cancer with low penetrance.
Adolescent ; Adult ; Breast Neoplasms/complications/*diagnosis/therapy ; Combined Modality Therapy ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Li-Fraumeni Syndrome/complications/*diagnosis/therapy ; Middle Aged ; Multimodal Imaging ; Mutation, Missense ; Pedigree ; Sequence Analysis, DNA ; Tumor Suppressor Protein p53/genetics ; Young Adult

Aged, 80 and over ; Brain ; Breast Neoplasms ; complications ; drug therapy ; physiopathology ; radiotherapy ; Cranial Fossa, Posterior ; diagnostic imaging ; physiopathology ; Female ; Humans ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; diagnosis ; radiotherapy ; Ophthalmoplegia ; complications ; diagnosis ; physiopathology ; radiotherapy ; Radiography

Abnormalities, Drug-Induced ; etiology ; Abnormalities, Radiation-Induced ; etiology ; Antineoplastic Agents ; adverse effects ; Breast Neoplasms ; diagnosis ; therapy ; Contraindications ; Female ; Humans ; Mastectomy ; Neoplasm Staging ; Pregnancy ; Pregnancy Complications, Neoplastic ; diagnosis ; therapy ; Prognosis ; Radiotherapy ; adverse effects ; Risk Assessment ; Risk Factors ; Sentinel Lymph Node Biopsy

OBJECTIVETo analyze the clinical characteristics of bone metastasis of malignant tumors.

METHODSThe clinical data and survival time of 355 patients with bone metastasis of malignant tumors were retrospectively analyzed.

RESULTSThe bone metastasis occurred more frequently in men (male:female = 1.45:1). The most common primary tumors were lung cancer in men and breast cancer in women. The thoracic vertebrae, ribs, lumbar vertebrae and pelvic were frequently involved metastatic sites and the multiple bone metastasis was common (83.4%). The main symptom was pain (75.2%). Local masses, disfunctions, pathologic fracture and paraplegia occurred in a few patients while many patients were asymptomatic (22.0%). The most frequent radiographic manifestation was the osteolytic bone destruction (82.2%). Integrated treatments were taken, including chemotherapy, hormonal therapy, biological therapy, radiotherapy, surgery, bisphosphonate analgetics, etc. The clinical benefit rate in pain relief was 98.5% and the effective rate was 72.2% in radiographic imaging. The median survival time was 13.9 months. Among them, it was 34.9 months in prostate cancer and 4.6 months in hepatocellular carcinoma. The survival time was longer in bone metastasis without other organ metastasis. There was no significant difference between the single and multiple bone metastases regarding the survival time.

CONCLUSIONIt is important to master the clinical features of bone metastasis of malignant tumors for early diagnosis and treatment, and to improve the quality of life and prolong the survival time.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Neoplasms ; complications ; diagnosis ; secondary ; therapy ; Breast Neoplasms ; pathology ; Carcinoma, Hepatocellular ; pathology ; secondary ; Combined Modality Therapy ; Female ; Humans ; Liver Neoplasms ; pathology ; Lung Neoplasms ; pathology ; Male ; Middle Aged ; Pain ; etiology ; Pain Management ; Prostatic Neoplasms ; pathology ; Quality of Life ; Retrospective Studies ; Survival Rate ; Young Adult