Fragile X syndrome and myelodysplasia discovered during pregnancy

Vorst, Eljakim; Levene, Naomi A.; Nisani, Rachel; Berrébi, Alain

doi:10.1111/j.1365-2141.1993.tb03190.x

Cited by 11 publications

(7 citation statements)

References 8 publications

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“…A fistful of cases of myelodysplastic syndrome (MDS) and pregnancy was identified [169][170][171][172][173][174][175][176][177][178][179], and in general terms fewer than 40 cases have been reported. In the larger series [173,[176][177][178], patients tend to have lower risk disease and managed with red blood cell and platelet transfusions, as needed.…”

Section: Myelodysplastic Syndromesmentioning

confidence: 99%

Management of hematological malignancies during pregnancy

et al. 2009

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The management of hematological malignancies during pregnancy is a challenging endeavor, which not only requires technical skills and knowledge by the clinicians but also requires sound clinical judgment and compassion, keeping in mind the patient and family preferences and, ultimately, the wellbeing of the neonate. The incidence of hematological malignancies during pregnancy is rare, ranging from 1 in 1,000 to 1 in 10,000 deliveries, impeding the design and execution of large prospective studies. The purpose of this review is to evaluate the limited existing data and make useful suggestions in the management of acute and chronic leukemias, Hodgkin and non‐Hodgkin lymphomas, plasma cell myeloma, and other hematological malignancies, such as myelodysplastic syndromes and hairy cell leukemia, during pregnancy. Am. J. Hematol. 2009. © 2009 Wiley‐Liss, Inc.

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Section: Myelodysplastic Syndromesmentioning

confidence: 99%

Management of hematological malignancies during pregnancy

et al. 2009

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“…Initially, many hypothesized that due to the fragility of the X chromosome, patients with FXS may be more susceptible to cancer [13][14][15]. Numerous case reports have described cancers of the testes, brain, lungs, kidneys, and leukemias in patients with FXS [14][15][16][17][18][19][20][21][22][23][24]. Luca et al hypothesized that FMRP may have a role in regulating mRNA metabolism of cancer genes and that increases of FMRP levels correlate with prognostic factors in aggressive breast cancer and metastatic lung cancer [25].…”

Section: Introductionmentioning

confidence: 99%

Aging in Fragile X Premutation Carriers

et al. 2016

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It is now recognized that FMR1 premutation carriers (PC) are at risk to develop a range of neurological, psychiatric, and immune-mediated disorders during adulthood. There are conflicting findings regarding the incidence of hypertension, hypothyroidism, diabetes, and cancer in these patients that warrant further study. A retrospective controlled study was performed in a convenience sample of 248 controls (130 men, 118 women) and 397 FMR1 PC with and without fragile X-associated tremor ataxia syndrome (FXTAS) (176 men, 221 women); all participants were at least 45 years old (men: mean 62.4, SD 9.5; women: mean 62.8, SD 9.9; p = 0.63). Memory and cognitive assessments (Wechsler Adult Intelligence Scale (WAIS-III), Wechsler Memory Scale (WMS-III)) and molecular testing (CGG repeats and FMR1-mRNA levels) were performed. Additional data included body mass index (BMI), cholesterol levels, blood pressure, hemoglobin A1c (HbA1c) levels, and medical history. A higher percentage of PC subjects self-reported having a diagnosis of hypertension (50.0 vs. 35.0 %, p = 0.006) and thyroid problems (20.4 vs. 10.0 %, p = 0.012) than control subjects. When comparing controls versus PC with FXTAS, the association was higher for diabetes (p = 0.043); however, the effect was not significant after adjusting for demographic predictors. Blood pressure, blood glucose levels, HbA1c, and BMI values were not significantly different between the two groups. The PC with FXTAS group performed consistently lower in neuropsychological testing compared with the PC without FXTAS group, but the differences were very small for all but the WAIS full-scale IQ. Based on these findings, it appears that the risk for hypertension, thyroid problems, and diabetes may be more frequent in PC with FXTAS, which will require verification in future studies.

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“…In a few cases, the fragile X syndrome has been reported in association with malignant neoplasms, and, because of the rarity of some of the reported tumors, the association seems more than coincidental. A carcinoma of the testis arose in 2 patients (one of them developed a contralateral tumor 5 years later) [3,4], adenocarcinoma of the colon (at the age of 14 years [5]), malignant glioma [6], lung carcinoma [7], and T-cell acute lymphoblastic leukemia [4] arose in 1 patient each; in addition, a patient with myelodisplasia has been reported [8]. The correlation between fragile X syndrome and cancer, although relatively infrequent, seems de® ned, even if the oncogenic weight of the X chromosome is not clear, despite the description of a transforming sequence (mcf.2) of Xq 27 [9] and of an increased frequency of nonrandom translocation across the fragile site [10].…”

Section: Discussionmentioning

confidence: 99%

“…The nodal involvement was widespread. According to the Tumor-Node-Metastasis (TNM) classi® cation [8], the tumor was staged as T4 N3 M1. Magnetic resonance imaging showed a large lesion extending from the nasopharynx into the oropharynx and nasal cavities, with involvement of the base of the skull and of cervical and supraclavicular lymph nodes; a 99 Tc bone scan revealed pathologic increased uptake in the right frontoparietal skull, in many ribs, and in the T12 vertebra.…”

Section: Case Reportmentioning

confidence: 99%