Differences of osteoblastic bone metastases and osteolytic bone metastases in clinical features and molecular characteristics

Abstract Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3′ end and likely corresponds to the pathogenic part of the expansion. This repeat expansion has been identified so far in six genes located on different chromosomes, which remarkably encode proteins with distinct cellular localizations and functions. Although the exact pathophysiological mechanisms remain to be clarified, it is likely that FAME repeat expansions lead to disease independently of the gene where they occur. We herein review the clinical and molecular characteristics of this singular genetic disorder, which interestingly shares clinical features with other more common neurological disorders whose etiology remains mainly unsolved.

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EP-1647: Clinical features and efficacy of radiotherapy for bone metastases of unknown origin

Radiotherapy and Oncology ◽

10.1016/s0167-8140(18)31956-x ◽

2018 ◽

Vol 127 ◽

pp. S887

Author(s):

N. Bychkova ◽

E. Khmelevsky

Keyword(s):

Bone Metastases ◽

Clinical Features ◽

Unknown Origin

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Clinical features and prognostic factors in patients with bone metastases from hepatocellular carcinoma receiving external beam radiotherapy

Cancer ◽

10.1002/cncr.24300 ◽

2009 ◽

Vol 115 (12) ◽

pp. 2710-2720 ◽

Cited By ~ 76

Author(s):

Jian He ◽

Zhao-Chong Zeng ◽

Zhao-You Tang ◽

Jia Fan ◽

Jian Zhou ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Prognostic Factors ◽

Bone Metastases ◽

Clinical Features ◽

External Beam Radiotherapy ◽

External Beam

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Etiologic spectrum and clinical characteristics of pediatric diabetes among 276 children and adolescents with diabetes in a single academic center

10.21203/rs.3.rs-76758/v1 ◽

2020 ◽

Author(s):

Ja Hye Kim ◽

Yena Lee ◽

Yunha Choi ◽

Gu-Hwan Kim ◽

Han-Wook Yoo ◽

...

Keyword(s):

Clinical Features ◽

Clinical Characteristics ◽

Neonatal Diabetes ◽

Wolfram Syndrome ◽

Monogenic Diabetes ◽

Molecular Characteristics ◽

Pediatric Endocrinology ◽

Academic Center ◽

Pediatric Diabetes ◽

Tertiary Center

Abstract Background The prevalence of monogenic diabetes is estimated to be 1–5% of patients with diabetes mellitus (DM). The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, in a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients with suspected monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, IPEX syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounts for 5.1% of patients referred to pediatric endocrinology clinics. The frequency of mutations in the major genes of MODY is low among pediatric patients in Korea. Identification of the genetic cause of DM is critical to provide appropriate therapeutic options and genetic counseling.

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Successful Response to Cyclophosphamide, Vincristine, and Dacarbazine Chemotherapy in a Patient with Metastatic Carotid Body Paraganglioma

Case Reports in Oncology ◽

10.1159/000520851 ◽

2021 ◽

pp. 1827-1833

Author(s):

Hiroki Yamada ◽

Toshirou Fukushima ◽

Takashi Kobayashi ◽

Shintaro Kanda ◽

Tomonobu Koizumi ◽

...

Keyword(s):

Bone Metastases ◽

Neuroendocrine Tumor ◽

Clinical Features ◽

Carotid Body ◽

Distant Metastasis ◽

Radical Surgery ◽

Primary Lesion ◽

Therapeutic Outcome ◽

Low Grade ◽

Metastatic Lesions

Carotid body paraganglioma is a rare neuroendocrine tumor presenting with low-grade histological and clinical features. However, the tumor has the potential to produce distant metastasis, and due to its rarity, little information is available regarding chemotherapy for such metastatic lesions. Here, we report a case of carotid body paraganglioma with development of pulmonary and bone metastases 10 years after radical surgery for the primary lesion in the neck. The lesions showed a good response to cyclophosphamide, vincristine, and dacarbazine chemotherapy. A beneficial therapeutic outcome by chemotherapy is extremely rare in patients with metastatic carotid body paraganglioma.

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Clinical features and imaging manifestations of retinoblastoma with hepatic metastasis

10.22541/au.160934342.25422667/v1 ◽

2020 ◽

Author(s):

Huali Gu ◽

Dongsheng Huang ◽

Zhuo Wang ◽

Yi Zhang ◽

ling Zhang ◽

...

Keyword(s):

Bone Metastases ◽

Clinical Features ◽

Hepatic Metastasis ◽

Tumor Regression ◽

Severe Disease ◽

Hepatic Metastases ◽

Neuron Specific Enolase ◽

Low Density ◽

Integrated Reporting ◽

International Integrated Reporting Council

Background: Hepatic metastasis from retinoblastoma (RB) is rare. We evaluated clinical features, imaging manifestations, treatment, and prognosis in these patients. Procedure: Clinical data of five patients diagnosed with hepatic metastases of RB at the Department of Pediatrics in Beijing Tongren Hospital between January 2009 and January 2019 were analyzed retrospectively. Results: Two patients had bilateral lesions, while three had unilateral lesions. Among the seven eyes with lesions, six and one were classified as stage E and C, respectively (International Integrated Reporting Council staging). On computed tomography (CT), low-density foci were observed (three, multiple foci and two, single foci). After chemotherapy, tumor regression was observed in four patients, while there was no response in one patient. Three patients who underwent enucleation were at high risk for extensive choroidal invasion. All patients had severe disease with multiple system involvement, including central nervous system (CNS) and bone metastases. Neuron-specific enolase (NSE) and lactate dehydrogenase (LDH) levels were significantly elevated in all patients; after treatment, they decreased in four patients and remained unchanged in one patient with end-stage disease. Two patients died, with survival durations of 1 and 3 months following the diagnosis of hepatic metastasis. Three patients survived and continued treatment. Conclusion: Hepatic metastasis from RB is rare and usually occurs with CNS and bone metastases. On CT, hepatic foci could be indicated by low-density lesions with calcification. Chemotherapy could be effective for hepatic metastases. The prognosis of these patients is poor; however, hepatic metastasis is not a direct cause of death.

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