ライフサイエンスコーパス: hamartoma

1 iocarcinoma, one hemangioma, and one biliary hamartoma).

2 rome characterized by benign proliferations (hamartomas).

3 enburg complexes (VMC; also known as biliary hamartomas).

4 ripapillary and macular variants of combined hamartoma.

5 y eyes with a clinical diagnosis of combined hamartoma.

6 erto unsolved cases of sporadic hypothalamic hamartoma.

7 of the tumour typical for retinal astrocytic hamartoma.

8 lly confirmed to have a bilateral multifocal hamartoma.

9 ed to hepatocellular carcinoma and bile duct hamartoma.

10 neovascularization in peripapillary combined hamartoma.

11 a, fistulas, hypertelorism, cleft palate and hamartoma.

12 uterine leiomyomas, and pulmonary chondroid hamartomas.

13 erapeutic potential for the treatment of TSC hamartomas.

14 in the genesis of human basaloid follicular hamartomas.

15 s pathway may have benefit in control of TSC hamartomas.

16 ogression of the epithelial component of the hamartomas.

17 ported as Wilms tumors, nephroblastomas, and hamartomas.

18 ere, we present the genomic landscape of TSC hamartomas.

19 terized by seizures, mental retardation, and hamartomas.

20 k-1 which may be useful to resolve TSC brain hamartomas.

21 pared with more indolent basaloid follicular hamartomas.

22 d intestinal malrotation with myofibromas or hamartomas.

23 ascular tufts are rare iris stromal vascular hamartomas.

24 on whether they are considered neoplasms or hamartomas.

25 85% of CS patients had gastrointestinal (GI) hamartomas.

26 ract corresponding to these gastrointestinal hamartomas.

27 cal cortical dysplasia (5), heterotopia (2), hamartoma (3), cortical duplication (1), polymicrogyria

28 riginate and propagate from the hypothalamic hamartoma and adjacent structures.

29 anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular sep

30 No reported cases of GCPS have hypothalamic hamartoma and PHS does not cause hypertelorism or broade

31 mon of these uncommon tumors are mesenchymal hamartoma and undifferentiated embryonal sarcoma, which

32 syndrome, which is characterized by multiple hamartomas and a high proclivity for developing cancer.

33 ome (CS), which is characterized by multiple hamartomas and a high risk of breast and thyroid cancers

34 s syndrome, which is characterized by benign hamartomas and a susceptibility to malignant epithelial

35 Analysis of hamartomas and adenocarcinomas from patients with PJS id

36 cterize the pathogenesis of gastrointestinal hamartomas and adenocarcinomas in PJS patients.

37 CS is characterized by multiple hamartomas and an increased risk of benign and malignant

38 ome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and

39 disorder associated with the development of hamartomas and benign tumors in a variety of tissues, in

40 rome, a rare familial trait characterized by hamartomas and by predisposition to cancer of the breast

41 in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peu

42 Hypothalamic hamartomas and gelastic seizures are often associated wi

43 ody of anecdotal evidence about hypothalamic hamartomas and gelastic seizures, many questions still r

44 rder that is characterized by benign tumors (hamartomas and hamartias) involving multiple organ syste

45 eghers syndrome, characterized by intestinal hamartomas and increased incidence of epithelial cancers

46 CS and BRR share some features, such as hamartomas and lipomatosis.

47 ve forms of these genes may account for some hamartomas and neoplasms in TS.

48 atter is characterized by the development of hamartomas and occasional malignancies.

49 rapamycins in controlling the growth of TSC hamartomas and other tumors that depend on elevated mTOR

50 erves as a resource into the origin of these hamartomas and provides a framework that unifies genomic

51 We observed retinal hamartomas and/or epiretinal membranes in nine patients

52 cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

53 Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathi

54 midline bald patches, generalized follicular hamartoma, and loose anagen syndrome, may be associated

55 ess retinal shadowing with congenital simple hamartoma, and photoreceptor loss and retinal thinning o

56 , less-severe kidney involvement, no retinal hamartomas, and less-severe facial angiofibroma.

57 r angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or

58 oblastomas, cylindromas, basaloid follicular hamartomas, and rarely, BCCs.

59 ll cells are the inciting cells for TSC skin hamartomas, and suggest that studies on hamartomas will

60 rowth potential of the great majority of TSC hamartomas, and the influence of genetic background on p

61 haracterized by mental retardation, multiple hamartomas, and variable cancer risk.

62 of mesenchymal cells in leiomyomas, lipomas, hamartomas,and other diseases has been linked to the hig

63 of a search for somatic mutations in paired hamartoma- and leukocyte-derived DNA samples from 38 ind

64 We compared TSC skin hamartomas (angiofibromas and periungual fibromas) with

65 Hamartomas are composed of cells native to an organ but

66 Hamartomas are extrapleural soft tissue lesions that cau

67 risk of renal cell carcinoma (<2%), but the hamartomas are of stromal origin and patients do not dev

68 rder tuberous sclerosis, in which widespread hamartomas are seen, some of which have a high level of

69 cell carcinoma (BCC) and basaloid follicular hamartoma, are associated with aberrant Hedgehog (Hh) si

70 The hamartomas arise as a result of somatic "second hits" at

71 r series, CHRRPE was noted to be primarily a hamartoma arising from the inner retinal layers.

72 Retinal astrocytic hamartomas arose in the nerve fiber layer in every case

73 role in the pathogenesis of gastrointestinal hamartomas as well as several cancers, including pancrea

74 peractivated in many human tumors, including hamartomas associated with tuberous sclerosis complex (T

75 erozygosity (LOH) is known to occur in these hamartomas at loci of both TSC1 and TSC2.

76 ure of these diseases is a predisposition to hamartomas, benign tumours containing differentiated but

77 10.3%) were diagnosed as basaloid follicular hamartomas (BFHs), 10 (34.5%) classified as infundibuloc

78 Optic pathway gliomas are not hamartomas but truly are neoplasms.

79 hese phenotypes model characteristics of TSC hamartomas called subependymal giant cell astrocytomas (

80 ogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainst

81 Although hamartomas can occur in almost any organ, they are most

82 egression, thought to be a characteristic of hamartomas, can be seen in neoplasms of other types as w

83 regions are most affected by the location of hamartomas causing laughing versus other types of seizur

84 uman development that comprises hypothalamic hamartoma, central polydactyly, and other malformations.

85 We report pulmonary chondroid hamartoma chromosome 6p21 aberrations targeting HMGI(Y).

86 0 kb of HMGI(Y), and one pulmonary chondroid hamartoma contained an intragenic fusion juxtaposing HMG

87 ) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels

88 ith tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations i

89 ppressor gene disorder characterized by skin hamartomas, cystic lung disease, and renal cell carcinom

90 dings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the ham

91 In hamartoma-derived DNA of seven patients we identified bi

92 f these signals in malformations such as the hamartoma described here.

93 is a tumor suppressor gene syndrome in which hamartomas develop in multiple organ systems.

94 In the tuberous sclerosis complex (TSC), hamartomas develop in multiple organs because of mutatio

95 al dominant genetic disorder in which benign hamartomas develop in multiple organs, caused by mutatio

96 ikingly similar to human basaloid follicular hamartomas develop, but BCCs do not arise even in elderl

97 g mice potently inhibited epithelial bud and hamartoma development without affecting Hh signaling.

98 The hamartomas did not show evidence of loss of the wild-typ

99 s in the previously established hypothalamic hamartoma disease genes GLI3 or OFD1.

100 Birt-Hogg-Dube syndrome, a hamartoma disorder characterized by benign tumors of the

101 ed more proliferation and mTOR activation in hamartoma epidermis.

102 clerosis complex, a disease characterized by hamartoma formation in multiple tissues.

103 autosomal dominant disease characterized by hamartoma formation in various organs and is caused by m

104 autosomal dominant disease characterized by hamartoma formation in various organs.

105 mice closely resemble the retinal astrocytic hamartomas found in human tuberous sclerosis (TSC) disea

106 n the basis of linkage analysis or because a hamartoma from the patient showed loss of heterozygosity

107 We analyzed 24 hamartomas from 10 patients for second-hit mutations, by

108 eta-catenin signaling in epithelial buds and hamartomas from mice expressing an oncogene, M2SMO, lead

109 ons such as cortical tubers and subependymal hamartoma/giant cell astrocytomas are major causes of TS

110 er TSC1 or TSC2, and characterized by benign hamartoma growth.

111 Several pulmonary chondroid hamartomas had chromosome rearrangements mapping within

112 ilar to the Lkb1(+/-) mice, gastrointestinal hamartomas have also been detected in the mice with thes

113 The hypothalamic hamartoma (HH) is a rare developmental malformation ofte

114 Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recogniz

115 Hypothalamic hamartomas (HH) are rare, benign congenital tumors assoc

116 Hypothalamic hamartomas (HH) patients had the highest seizure freedom

117 Human hypothalamic hamartomas (HHs) are highly associated with treatment-re

118 seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without co

119 eyes of 49 patients diagnosed with combined hamartoma identified 18 (36%) peripapillary lesions, 27

120 nalysis of peripapillary vs macular combined hamartoma identified differences in the following featur

121 s identified in an adenocarcinoma but not in hamartomas, implying that allelic loss of these two regi

122 a demonstrated focal seizure origin from the hamartoma in 1 patient.

123 tasia type 2 and solitary retinal astrocytic hamartoma in one patient.

124 cell carcinoma (BCC) and basaloid follicular hamartoma in skin.

125 ic signaling abnormalities underlie specific hamartomas in a model of a human genetic disorder.

126 TSC2, is characterized by the development of hamartomas in a variety of organs.

127 TSC2, is characterized by the development of hamartomas in a variety of organs.

128 TSC2 and is characterized by the presence of hamartomas in many organs.

129 x (TSC) is characterized by the formation of hamartomas in multiple organs resulting from mutations i

130 c disorder characterized by the formation of hamartomas in multiple organs.

131 autosomal dominant disorder characterized by hamartomas in one or more organs, including the brain, s

132 rly gatekeeper regulating the development of hamartomas in PJS and suggest that hamartomas may be pat

133 odalities for the treatment and detection of hamartomas in PJS patients, and potential for the screen

134 C2 gene, characterized by the development of hamartomas in various organs and neurological manifestat

135 ystic nephroma, and nasal chondromesenchymal hamartoma) in 102 female and male nonproband DICER1 carr

136 affected individuals develop benign tumors (hamartomas) in many organs.

137 ly upregulated in mouse and human follicular hamartomas, in contrast to the high levels detected in B

138 dominant disease characterized by multiorgan hamartomas, including renal angiomyolipomas and pulmonar

139 zygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour supp

140 roblast-like cells grown from human TSC skin hamartomas induced normal human keratinocytes to form ha

141 elial cyst, cystic lymphangioma, hemangioma, hamartoma, infarction, sclerosing angiomatous nodular tr

142 inant cellular phenotype of the subependymal hamartomas is astroglial and suggests that the neuronal

143 enodermatosis characterized by hair follicle hamartomas, kidney tumors and spontaneous pneumothorax.

144 The fact that hamartomas, lung cysts, and renal cell carcinoma can als

145 opment of hamartomas in PJS and suggest that hamartomas may be pathogenetic precursors of adenocarcin

146 thogenesis, "benign tumor of the iris," not "hamartoma," may be a better descriptor.

147 e explored the effect of Rapalink-1 on a TSC hamartoma model.

148 (n = 4), focal nodular hyperplasia (n = 2), hamartoma (n = 1), and metastatic embryonal sarcoma (n =

149 (n = 9); group V, proliferating neurocristic hamartoma (n = 1); and group VI, melanoma arising in con

150 = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%), combined hamartoma of retina and

151 TSC), in which development of benign tumors, hamartomas, occurs via a two-hit mechanism.

152 ology for this condition is 'lipofibromatous hamartoma of nerve' or Type I macrodactyly.

153 astrocytic hamartoma (n = 15; 2%), combined hamartoma of retina and retinal pigment epithelium (n =

154 Mesenchymal hamartoma of the chest wall may be recognized by its cha

155 Mesenchymal hamartoma of the liver (MHL) is a benign tumor affecting

156 tomography (OCT) characteristics of combined hamartoma of the retina and retinal pigment epithelium (

157 on and retinal disorganization with combined hamartoma of the retina and retinal pigment epithelium,

158 Hamartoma of the thoracic wall is a rare benign tumor th

159 CD is characterized by hamartomas of many organ systems, including the thyroid,

160 e a group of disorders that feature multiple hamartomas of the central and peripheral nervous system,

161 For 14 mesenchymal hamartomas of the chest wall in 12 children, radiologic

162 neous pigmentation, predisposition to benign hamartomas of the gastrointestinal tract and also to sev

163 , a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), pred

164 ce of two or more Lisch nodules (melanocytic hamartomas of the iris) is one of seven diagnostic crite

165 bromas, hyperpigmentation of melanocytes and hamartomas of the iris.

166 Orbital lymphangiomas, congenital hamartomas of the lymphovascular tissue, are often assoc

167 rises from a subclinical basaloid follicular hamartoma or similar precursor lesion.

168 Hamartomas overgrow epithelial and mesenchymal cells in

169 Hypothalamic hamartomas present with isolated fits of ictal laughter

170 Retinal astrocytic hamartomas (RAH) is a benign vascularized glial tumor of

171 sias had better outcome than heterotopia and hamartoma regardless of type of surgical procedure.

172 ficantly different risk levels for classical hamartoma-related features (odds ratio [OR] range of 4.1

173 Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure remission without complica

174 umors, such as retinoblastoma and astrocytic hamartoma, reveals full-thickness replacement of the ret

175 reduced neuron dendrite arbors, and reduced hamartoma size.

176 le for Cowden disease, an autosomal dominant hamartoma syndrome associated with thyroid and breast tu

177 Tuberous sclerosis (TSC) is a hamartoma syndrome attributable to mutations in either T

178 erous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two

179 Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 i

180 Tuberous sclerosis is a hamartoma syndrome due to mutations in TSC1 or TSC2 in w

181 berous sclerosis complex (TSC) is a familial hamartoma syndrome in which renal involvement is common

182 ed in Cowden syndrome, an inherited multiple hamartoma syndrome that includes predisposition to FTC.

183 me (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, thyroid, a

184 ns cause tuberous sclerosis complex (TSC), a hamartoma syndrome with lung involvement.

185 pose patients to develop renal tumors in the hamartoma syndrome, Birt-Hogg-Dube (BHD).

186 sing two cell culture models of the familial hamartoma syndrome, tuberous sclerosis, we show here tha

187 ase (CD), a rare autosomal dominant multiple-hamartoma syndrome.

188 tuberous sclerosis complex, the PTEN-related hamartoma syndromes and Peutz-Jeghers syndrome.

189 ressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap,

190 Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and

191 iseases, including obesity, type 2 diabetes, hamartoma syndromes, and cancer.

192 ay be a common molecular basis, not only for hamartoma syndromes, but also for other cellular hypertr

193 ossible explanation for the benign nature of hamartoma syndromes, including TSC.

194 ed mTOR activity are associated with several hamartoma syndromes, including tuberous sclerosis comple

195 coded by genes responsible for several other hamartoma syndromes, LKB1, TSC1/2, and PTEN, have been s

196 ould easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba sy

197 lcaba syndrome (BRRS) are autosomal dominant hamartoma syndromes.

198 TOR) signaling and are defective in distinct hamartoma syndromes.

199 naling and are mutated in autosomal dominant hamartoma syndromes.

200 dentified as the susceptibility gene for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and

201 of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a

202 Heterozygotes develop gastric hamartomas that are histologically similar to those foun

203 nd SD-OCT aid in the detection of astrocytic hamartomas that are not visible on clinical examination

204 e development of PHTS and also reverses skin hamartomas that have reached advanced stages in mice.

205 nd SD-OCT detected occult retinal astrocytic hamartomas that were not observed on clinical examinatio

206 croarray on surgically resected hypothalamic hamartoma tissue and paired leukocyte-derived DNA from 2

207 ed the genomic interrogation of hypothalamic hamartoma tissue.

208 sease genes that cause sporadic hypothalamic hamartoma to bi-allelic (one germline/one somatic) varia

209 utational events underlie the progression of hamartomas to adenocarcinomas, and some of these somatic

210 ith Krt5 in vivo, delays basaloid follicular hamartoma tumor initiation and growth in mice with const

211 drome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome an

212 hromosome ten (PTEN) are diagnosed with PTEN hamartoma tumor syndrome (PHTS) and are at high risk for

213 PTEN hamartoma tumor syndrome (PHTS) comprises a collection o

214 PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelo

215 PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant

216 Patients with PTEN hamartoma tumor syndrome (PHTS), a molecular diagnosis f

217 ions receive the molecular diagnosis of PTEN Hamartoma Tumor Syndrome (PHTS), an inherited cancer pre

218 Germline PTEN pathogenic variants cause PTEN hamartoma tumor syndrome (PHTS), associated with lipoma

219 ermline pathogenic PTEN mutations cause PTEN hamartoma tumor syndrome (PHTS), featuring various benig

220 In PTEN hamartoma tumor syndrome (PHTS), longitudinal studies re

221 se and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract

222 ine PTEN tumor-suppressor variants have PTEN hamartoma tumor syndrome (PHTS).

223 g, PTEN, are molecularly diagnosed with PTEN hamartoma tumor syndrome (PHTS).

224 yndromes that are collectively known as PTEN hamartoma tumor syndrome (PHTS).

225 Germline PTEN variants (PTEN hamartoma tumor syndrome [PHTS]) confer up to 85% lifeti

226 h heterozygous germline PTEN mutations (PTEN hamartoma tumor syndrome [PHTS]).

227 romosome 10) is the underlying cause of PTEN hamartoma tumor syndrome and a wide variety of human can

228 , macrocephaly, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to inclu

229 es that are jointly referred to as the "PTEN hamartoma tumor syndrome" (PHTS) and include Cowden synd

230 iedemann syndrome/ hemihypertrophy, and PTEN hamartoma tumor syndrome, among others, are reviewed.

231 ls the distinct mutational landscape of PTEN hamartoma tumor syndrome-associated thyroid cancers from

232 suppressor that has been linked to the PTEN hamartoma tumor syndrome.

233 ations, and collectively referred to as PTEN hamartoma tumor syndrome.

234 ch are collectively referred to as the "PTEN hamartoma tumor syndrome." The human PTEN gene has been

235 hatase, have been implicated in at least two hamartoma tumor syndromes that exhibit some clinical ove

236 pping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome

237 mosome ten (PTEN) are found in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a

238 n of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.

239 Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumor syndromes with an increased risk of brea

240 en syndrome and a range of several different hamartoma-tumor syndromes.

241 PTEN hamartoma tumour syndrome (PHTS) is an umbrella term enc

242 ke syndrome, collectively classified as PTEN hamartoma tumour syndrome (PHTS).

243 but no peripheral manifestations of the PTEN hamartoma tumour syndrome.

244 riety of human cancers and several inherited hamartoma tumour syndromes, including Cowden syndrome, w

245 ssociated with autism, macrocephaly and PTEN hamartoma tumour syndromes.

246 Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations

247 ndrome with neurological symptoms and benign hamartoma tumours in the brain.

248 r structural changes over time in astrocytic hamartomas using SD-OCT may be beneficial for monitoring

249 eatures, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability,

250 elangiectasia type 2 and solitary astrocytic hamartoma was detected as a unique and rare observation.

251 ed that the atypical location of the retinal hamartoma was secondary to the abnormal globe developmen

252 cases of gelastic epilepsy and hypothalamic hamartoma, we aimed to address these questions by analys

253 Astrocytic hamartomas were bilateral in 43.3% and 18.1% (P=0.009) a

254 Hamartomas were hyporeflective on infrared imaging and h

255 d, of which the subependymal and subcortical hamartomas were most prevalent (65%).

256 elded lesions resembling basaloid follicular hamartomas, which have previously been linked to low-lev

257 r characterized by widespread development of hamartomas, which is caused by mutations in either TSC1

258 skin hamartomas, and suggest that studies on hamartomas will provide insights into tissue morphogenes

259 Hypothalamic hamartoma with gelastic seizures is a well-established c

260 PJS patients develop gastrointestinal hamartomas with 100% penetrance often in the second deca

261 ts recapitulated characteristics of TSC skin hamartomas with increased mammalian target of the rapamy

262 resent total retinal detachment or a retinal hamartoma within a retinal detachment.