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Pediatric Glioblastoma Multiforme in Association with Turner's Syndrome: A Case Report
Abstract
The Ullrich-Turner syndrome (complete or partial X-chromosome monosomy) has been found to be associated with an increased rate of some extragonadal neoplasms. Sporadic reports of the Turner syndrome with various brain tumors, including few cases of glioblastoma multiforme, have been found in the literature. However, published data are insufficient to establish a definite relationship between these tumors and the Turner syndrome. Herein, a rare case of primary pediatric glioblastoma multiforme in a 7-year-old girl with Turner's syndrome is reported, and various aspects regarding clinical and pathophysiological issues have been discussed. Although Turner's syndrome is not one of the congenital chromosomal abnormalities which demand routine CNS screening, neurological assessment may be of value in those with relevant clinical findings. © 2015 S. Karger AG, Basel.
... Ryzyko wystąpienia marskości wątroby jest do 5 razy wyższe niż w ogólnej populacji [24]. Przynajmniej w części ma to związek z częstszym występowaniem pierwotnej marskości żółciowej [25]. ...
... Nowotwory OUN w ZT występują z większą częstotliwością w porównaniu z populacją ogólną, co sugeruje możliwą tendencję do onkogenezy w tym zespole. W literaturze opisano trzynaście przypadków oponiaka z towarzyszącymi objawami neurologicznymi, w tym incydentalnie bezobjawowymi [82], kilka przypadków glejaka wielopostaciowego [24,25], i czaszkogardlaka [28]. Część przypadków oponiaka wiąże się ze stosowaną terapią zastępczą estrogenami. ...
Zespół Turnera (ang. Turner’s syndrome, łac. syndroma Turner) spowodowany jest całkowitym lub częściowym brakiem jednego z chromosomów X we wszystkich komórkach organizmu lub w pewnej ich części. Występuje u 1 na 2000 – 2500 żywo urodzonych noworodków płci żeńskiej. Jest jedną z najczęstszych aberracji chromosomowych. Szerokie spektrum problemów zdrowotnych w tym zespole nakłada obowiązek zapewnienia pacjentce wielospecjalistycznej opieki medycznej Artykuł oparty jest na przeglądzie najnowszej literatury, a jego celem jest zwrócenie uwagi na to, że zaburzenia neurologiczne w tym neuropsychiatryczne oraz neuropsychologiczne, choć nie stanowią objawów osiowych w zespole to opracowywanie procedur medycznych dla tych nieprawidłowości powinno być uwzględnione w optymalnym modelu opieki nad pacjentkami z zespołem Turnera. Przeprowadzenie dalszych prac badawczych i poszerzenie wiedzy w tej dziedzinie może spowodować rozwój metod terapeutycznych, których zastosowanie z pewnością korzystnie wpłynie na codzienne funkcjonowanie chorych i poprawi ich jakość życia.
... Surveillance includes checking LFTs annually beginning at age 10 years, which is younger than previously suggested Alexiou et al., 2014;Hanaei, Habibi, Nejat, Sayarifard, & Vasei, 2015;Jones et al., 2018;Pier et al., 2014), case series (Larizza et al., 2016), and epidemiologic studies (Ji et al., 2016) provide support for an increase in certain types of cancer occurrence (showing a difference in pattern), the overall risk does not appear to be increased (see also Section 4.2). Thus, surveillance for cancer is not indicated. ...
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women. It can be viewed as an interpretation of recent international guidelines, complementary to those recommendations, and in some instances, an update. An attempt was made to provide an international perspective. Finally, the women and families who live with Turner syndrome and who inspired several sections, are themselves part of the broad readership that may benefit from this review.
... 11,19,46,47 Cases of congenital chromosomal abnormalities such as Turner's syndrome, combined with GBM in later childhood, also exist in the literature. 48 Recent studies have focused on the genetic profile of congenital GBMs. However, due to the limited number of cases, this remains unclear. ...
Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those individuals who can tolerate combined surgical resection and chemotherapy has been noted. The overall prognosis, however, remains poor. A better understanding of this unusual entity is important. Further research is needed to discern tumor's pathogenesis and natural history. This will likely lead to the development and implementation of treatment strategies that may decrease mortality and morbidity in these patients.
... [14] Few cases of meningioma are attributed to estrogen replacement therapy in patients with TS. Few cases of glioblastoma multiforme are seen in associated with TS, [15,16] and few cases of craniopharyngioma are reported. [17] ...
Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.
Tumors of the central nervous system (CNS) comprise a broad and diverse collection of neoplasms within pediatric oncology. Yet when taken together pediatric brain and spine tumors represent the most common childhood cancer with an incidence of 5.57 per 100,000 annually and are a leading cause of cancer-related death in patients under 19 years of age (Ostrom et al. 2014; Siegel et al. 2015). Factors such as genetic predisposition, age, and sex play an increasingly significant role in understanding presentation, management, and etiology of childhood brain tumors. Although long-standing observations regarding general patterns of CNS tumors continue to be clinically useful, the introduction of molecular subtypes, such as in medulloblastoma and ependymoma, and the discovery of epigenetic regulators, such as in diffuse intrinsic pontine gliomas (DIPG) and other diffuse midline gliomas with H3K27M mutations, have repurposed epidemiological findings and reconceptualized CNS tumor classification (Louis et al. 2016). The elucidation of the molecular profile of pediatric CNS tumors has made it clear that epidemiology, viewed through a prism of genetics and epigenetics, can offer even greater insights into this incredibly challenging group of tumors. Epidemiology today considers not only environmental, parental, and birth factors that may increase the risk of pediatric CNS tumors, but also germline and molecular features that are causal or pathognomonic of tumor types and subtypes.
Purpose:
Iran lacks a national registry reporting the data of central nervous system (CNS) tumors in children. Consequently, treatment success and failure rates are unknown, and a centralized system for disease-management recommendations does not exist.
Methods:
To critically evaluate the current state of pediatric CNS tumor studies and reporting in Iran, we performed an extensive retrospective analysis of all known reports identified with multiple search engines.
Results:
Of 409 initially retrieved articles, we evaluated 123 matching our inclusion criteria. We further narrowed these reports to 74 by excluding studies pertaining to adult patients only, non-CNS tumors, or brain metastases. We also excluded studies that were performed outside of Iran or that did not contain relevant data from our analysis. We divided the remaining studies into those describing exclusively pediatric patients (3484 patients) and those describing mixed populations of adults and children (18,641 patients). In total, our analysis included 22,125 patients.
Conclusions:
We identified many limitations in the reporting of studies describing the treatment or prevalence of CNS tumors in children in Iran. Our results may guide future efforts in Iran to improve the care for children with CNS tumors and may provide a valuable template for other comprehensive country- and disease-specific retrospective analyses.
Giant cell glioblastoma multiforme is a rare subgroup of glioblastoma multiforme. It constitutes about 5% of all glioblastoma cases. Pediatric giant cell glioblastoma is extremely rare. We report two such cases of giant cell glioblastoma in pediatric age group (≤18 years). The pertinent literature is reviewed regarding this uncommon entity.
Turner syndrome (TS) is a female chromosomal disorder caused by the lack of an X chromosome. The loss of this chromosome may result in the deficiency of tumor-suppressive or DNA repair genes, leading to tumorigenesis. Recombinant human growth hormone (GH) has been popularly used for treatment in TS patients for growth promotion. Although treatment with GH has been correlated with precancerous and cancerous lesions in TS children, its associations with gastric or colonic tumors, especially ileal tubular adenomas, have not been reported frequently. We here report a case of a 16-year-old patient with TS and tubular adenoma of the small intestine. Whether the ileal adenoma was caused by TS itself or GH therapy was discussed.
Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment. © The Author [2009]. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
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The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.
Turner syndrome, one of the most common cytogenetic abnormalities, is characterised by complete or partial X-chromosome monosomy. Cancer risks in women with Turner syndrome have not been clearly established. We aimed to compare the risk of cancer in women with this syndrome with that of the general population.
We formed a national cohort of 3425 women who were cytogenetically diagnosed with Turner syndrome in Great Britain between 1959 and 2002. Identifying information for these patients was sent to the National Health Service Central Register (NHSCR) for England and Wales and to the NHSCR for Scotland. Individuals who were identified on this register were followed-up for cancer incidence. Standardised incidence ratios (SIRs) and 95% CIs were calculated on the basis of the number of cancers observed compared with that expected based on national incidence rates. Cumulative risk estimates were obtained by use of the Kaplan-Meier method.
A total of 58,299 person-years were accrued during the study, with a mean of 17.0 years (SD 8.6) follow-up per patient. 73 malignancies other than non-melanoma skin cancer occurred (SIR 0.9 [95% CI 0.7-1.2]). Risks were significantly increased for tumours of the CNS (n=13; 4.3 [2.3-7.4]), especially for meningioma (n=7; 12.0 [4.8-24.8]) and childhood brain tumours (n=3; 10.3 [2.1-30.1]), and for cancers of the bladder and urethra (n=5; 4.0 [1.3-9.2]) and eye (n=2; 10.5 [1.3-37.9]), compared with the general population. However, the risk of breast cancer was significantly decreased (n=10; 0.3 [0.2-0.6]). The SIR for cutaneous melanoma was 2.2 (95% CI 1.0-4.4; n=8), and one of the ocular cancers was a melanoma. The risk of corpus uteri cancer was significantly increased at ages 15-44 years (n=3; 8.0 [1.6-23.2]). During follow-up, five women, all with a Y-chromosome lineage, developed gonadoblastoma of the ovary, corresponding to a cumulative risk of 7.9% (95% CI 3.1-19.0) by age 25 years in this group.
This study shows that, in addition to having an increased risk of gonadoblastoma, women with Turner syndrome seem to be at increased risk for meningioma and childhood brain tumours, and possibly bladder cancer, melanoma, and corpus uteri cancer, but are at a decreased risk for breast cancer. Reasons for these risks might relate to genetic and hormonal factors or to the effects of hormonal treatments given to women with Turner syndrome.
Ten unselected patients with gonadal dysgenesis, three with Klinefelter's and seven with Turner's syndromes, were studied. Two of the patients with Klinefelter's and two with Turner's syndromes had enlarged pituitary fossae. The other six patients had normal sized sella, but showed localized change in the sellar contour on polytomography, suggesting hyperplasia or microadenoma formation of the pituitary gland.
All ten patients had abnormally high serum follicle-stimulating hormone levels both at basal and after luteinizing hormone-releasing hormone stimulation.
These results suggest that hyperplasia or microadenoma of the pituitary gland may occur secondary to gonadal failure, producing enlarged volume or attenuation in the normal contour of the sella turcica. Lack of awareness of reactive pituitary changes secondary to gonadal failure may result in inappropriate surgical management of what may appear to be primary pituitary tumor.
(Arch Intern Med 139:198-201, 1979)
Turner syndrome (TS) (approximately 1:5,000 births) and craniopharyngioma (CP) (1:50,000 children) are both rare conditions. We present three cases of TS with CP, an association not previously described. Visual failure, poor growth or headache led to MRI diagnosis of CP. Whilst two had evidence of hypopituitarism at diagnosis of CP, they all developed hypopituitarism following surgical debulking. Two required radiotherapy due to regrowth. Whether CP and TS share a similar aetiology is unknown. Clinicians need to be aware of this association, and should perform urgent MRI scanning in TS patients with headache, visual impairment or clinical/biochemical evidence of hypopituitarism. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.
There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. © 1996 Wiley-Liss, Inc.
We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.
A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.
Ten unselected patients with gonadal dysgenesis, three with Klinefelter's and seven with Turner's syndromes, were studied. Two of the patients with Klinefelter's and two with Turner's syndromes had enlarged pituitary fossae. The other six patients had normal sized sella, but showed localized change in the sellar contour on polytomography, suggesting hyperplasia or microadenoma formation of the pituitary gland. All ten patients had abnormally high serum follicle-stimulating hormone levels both at basal and after luteinizing hormone-releasing hormone stimulation. These results suggest that hyperplasia or microadenoma of the pituitary gland may occur secondary to gonadal failure, producing enlarged volume or attenuation in the normal contour of the sella turcica. Lack of awareness of reactive pituitary changes secondary to gonadal failure may result in inappropriate surgical management of what may appear to be primary pituitary tumor.
A female patient with a clinical picture of Turner's syndrome had five separate malignant tumors (three squamous cell carcinomas of the tongue, a colon cancer, and a glioblastoma multiforme). Her peripheral blood cells showed a 45,X/46,XXp-/46,XX/47,XXX mosaicism. The findings are discussed in relation to other extragonadal tumors in Turner's syndrome reported to-date.
The pituitary glands of 18 patients with untreated Addison's disease were studied by histologic and immunocytochemical methods. Adrenal destruction was caused by tuberculosis (13 cases) or autoimmune adrenalitis (five cases), and the duration of the adrenal insufficiency ranged from one to 16 years. Both diffuse and nodular hyperplasia of corticotropic cells were evident in each case, and the extent of hyperplasia correlated with the duration of disease. In five cases, nodular proliferations with morphologic features between those of hyperplasia and those of adenoma, termed tumorlets, were identified, as were two microadenomas, only one of which was available for study. In all instances, the proliferating corticotrophs stained positively with PAS and were immunoreactive for adrenocorticotropic hormone and beta-endorphin. We conclude that diffuse and nodular corticotroph hyperplasia are common in untreated Addison's disease, although frank adenoma formation seems to be rare. The latter may be related to the short duration of disease or may imply the absence of additional, unknown factors that are required for adenoma growth.
MAGE1 encodes a tumor specific antigen MZ2-E that elicited a cytotoxic T lymphocytic response (CTL) in the patient from whom it was derived. In this study, cDNA and genomic probes have been used to localize this gene by Southern analysis of a human-rodent somatic cell hybrid panel. The probes detect a small multigene family, and both MAGE1 and several other members of this family are located on the long arm of the human X chromosome. A cosmid with a 12-kb insert including the entire MAGE1 gene was biotinylated and used to further localize the gene to Xq28 by in situ hybridization of metaphase spreads. The function of this antigen in normal cells and tumor cells currently remains unclear.
This is the case report of a girl who was diagnosed as having Ullrich-Turner mosaic at the age of 12 years. She had normal pubertal development and menarche at the age of 15 years. The patient had regular menstrual cycles for 12 months before developing secondary amenorrhea. She was started on estrogen/gestagen replacement therapy by her gynecologist. Several months later a prolactinoma was diagnosed by laboratory and imaging techiques. A second-generation dopamine agonist led to almost regular cycles. Therefore, even in patients with susceptibility to ovarian failure secondary amenorrhea necessitates thorough diagnostic investigation. Copyrightz1999S.KargerAG,Basel
