Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

Wang, Q.; Timur, Ayse Anil; Szafrański, Przemysław; Sadgephour, Azita; Jurecic, Vesna; Cowell, John K.; Baldini, Antonio; Driscoll, David J.

doi:10.1159/000059343

Cited by 63 publications

(39 citation statements)

References 19 publications

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“…In several patients the balanced translocation involving chromosomes 8q22.3 a 14q13 was described and found, in others translocation t (5; 11), (q13.3; p15.1). Identifi cation of two different conversions of chromosomes connected with Klippel-Trenaunay syndrome probably means the portion of more genes, which indicates its genetic heterogeneity (7).…”

Section: Discussionmentioning

confidence: 99%

Patients with Klippel-Trenaunay syndrome

Zavacká¹,

J²,

Gibarti³

et al. 2017

BLL

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Klippel-Trenaunay syndrome is the most frequent systemic venous angiodysplasia. It is characterized by cutaneous capillary malformations -naevus fl ammeus, excessive growth of soft and bone tissue, venous and lymphatic malformations. Investigative methods include: clinical examinations, venography as the evidence of dysplastic changes of superfi cial and / or deep venous system, the Moyne obstruction and venous insuffi ciency perforator. Treatment is conservative, related to that of chronic venous disease. The surgery is aimed at removing the varices and insuffi cient perforators (Fig. 9, Ref. 8 Clinical study 139-years old woman patient was admitted to the Clinic of vascular surgery, East Slovak Institute of Cardiovascular Diseases, Inc. in Kosice for persistent swelling of the left tibia, progression of relapsing varicose veins of the left tibia with the tendency to deterioration. In anamnesis she overcame usual childhood diseases, surgery of varicose veins in the left lower limb at the local surgical department, in the dispensary of angiologist and orthopaedist for spine scoliosis. For a long time she used venotonics and anticoagulant therapy with low molecular heparin (LMWH).Within the family there were no problems with varicose veins. At admission, on the shin on the right there were extensive stem varicosities, pre-tibial and perimalleolar oedema.Pulsations were bilaterally well tangible at full range, trophic changes of the skin and adnexes were not present. In the sacral region there was haemangioma of the size of 10x10 cm (Fig. 1).The whole left lower limb was thicker by 3-4 cm. The left foot was signifi cantly smaller than the right one, with skeletal malformation (Figs 2 and 3).In the control ultrasound of the lower limb vein system the fi nding on the left lower limb was following: v. saphena magna as well as v. saphena parva were extirpated, without any signs of recurrence, perforators on the tibia were suffi cient. On the dorsal side of the thigh the cranial extension protruding from the stump of the extirpated v. saphena parva was confi rmed by examination. It was signifi cantly dilated with the luminal diameter of 13.5 mm.Extension was drained by dilated perforator in the middle of dorsomedial side of the thigh running into v. femoralis l.sin.In the preoperative examination the normochromatic anaemic syndrome of slight degree v.s. sideropenic, leucopaenia of slight degree, and slight hypercholesterolemia dominated in the laboratory picture. According to the examination conclusion, the patient was cardio-pulmonary compensated without any contraindications to surgery.Under the total anaesthesia in the position on the abdomen, the stump of v. saphena parva l.sin was anastomized at its distal and proximal extension. The distal extension was fi brotically changed, probably after previous surgery. The proximal one was about 0.7 cm, fi brotically changed after previous infl ammations. After its skeletinization in the middle third of the back half of the thigh we ligated its tertiary part in the...

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Section: Discussionmentioning

confidence: 99%

Patients with Klippel-Trenaunay syndrome

Zavacká¹,

J²,

Gibarti³

et al. 2017

BLL

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“…1,3,5,11,13,16,28,30) Spinal AVMs account for 3-4% of all intradural spinal cord mass lesions, but conus medullaris-cauda AVMs are even rarer, sporadic, and mostly anecdotal. 31) There may be a possible association between KTS and spinal AVM as a result of an embryonic disorder that affects both the ventrolateral and dorsolateral arteries, and gives rise to segmental neurocutaneous angiomas.…”

Section: Discussionmentioning

confidence: 99%

“…8) New genetic insights in KTS pathogenesis have suggested that overexpression of VG5Q angiogenic factor and t(5;11)(q13.3;p15.1) translocation may result in increased angiogenesis. 28,30) However, KTS is genetically heterogeneous so the sporadic occurrence of the syndrome may be explained by predominant inheritance or autosomic-dominant inheritance with incomplete penetrance involving mutated genes that code for angiogenic factors. 1,5,11,28,30) Due to the sporadic incidence of KTS and to the even more rare KTS-spinal AVM association, further investigations are needed to validate the genetic hypothesis.…”

Section: Discussionmentioning

confidence: 99%

“…3) KTS may exceptionally be associated with spinal arteriovenous malformations (AVMs) that could be related to the overexpression of angiogenic factors. 1,5,11,28,30) However, these assumptions were recently contested, suggesting that the presence of spinal AVM is not a feature of KTS and this association might be erroneous. 3) In addition to the controversy about the terminology and pathological associations, there is no consensus about the optimal treatment for symptomatic spinal AVMs, and few KTS patients have been treated for spinal AVMs (Table 1).…”

Section: Introductionmentioning

confidence: 99%

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Conus Medullaris-Cauda Arteriovenous Malformation and Klippel-Trenaunay Syndrome: What is the Treatment Goal?

Sgubin

Kanai

Paola

et al. 2013

Neurol. Med. Chir.(Tokyo)

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A 29-year-old man with Klippel-Trenaunay syndrome (KTS) presented with a symptomatic conus medullaris-cauda arteriovenous malformation (AVM) manifesting as back and right limb pain, which abruptly worsened with the onset of right limb weakness and urinary retention. He was treated by multisession endovascular embolization resulting in improved neurological status. KTS is a sporadic disease with unknown etiology, but genetic susceptibility may lead to the over-expression of angiogenic factors and increased angiogenesis. KTS may be exceptionally associated with slow-flow spinal AVM, but there is no consensus about the optimal treatment for these symptomatic lesions. Embolization treatment may represent a safe option to minimize complications and possibly improve the neurological status in patients with spinal AVM associated with KTS, if one or both legs are already impaired by hypertrophy or other vascular malformations. Genetic analysis may reveal an underlying angiogenesis change, so closer follow up might be indicated in selected patients.

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“…Previous genetics studies have identified three chromosomal abnormalities in three separate KTS patients: two balanced translocations t(5.11)(q13.3;p15.1) and t (8,14)(q22.3;q13), and an extra supernumerary ring chromosome 18 (Tian et al 2004;Timur et al 2004;Wang et al 2001;Whelan et al 1995). Molecular characterization of KTS-associated translocation t(5.11)(q13.3;p15.1) advanced far ahead of the other two cytogenetic anomalies.…”

Section: Introductionmentioning

confidence: 98%

Identification of Association of Common AGGF1 Variants with Susceptibility for Klippel‐Trenaunay Syndrome Using the Structure Association Program

Seidelmann

et al. 2008

Annals of Human Genetics

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SummaryKlippel-Trenaunay syndrome (KTS) is a severe congenital disorder characterized by capillary malformations, venous malformations or varicose veins, and hypertrophy of the affected tissues. The angiogenic factor gene AGGF1 was previously identified as a candidate susceptibility gene for KTS, but further genetic studies are needed to firmly establish the genetic relationship between AGGF1 and KTS. We analyzed HapMap data and identified two tagSNPs, rs13155212 and rs7704267 that capture information for all common variants in AGGF1. The two SNPs were genotyped in 173 Caucasian KTS patients and 477 Caucasian non-KTS controls, and both significantly associated with susceptibility for KTS (P = 0.004 and 0.013, respectively). Permutation testing also showed a significant empirical P value for the association (empirical P = 0.006 and 0.015, respectively). To control for potential confounding due to population stratification, the population structure for both cases and controls was characterized by genotyping of 38 ancestry-informative markers (AIMs) and the STRUCTURE program. The association between the AGGF1 SNPs and KTS remained significant after multivariate analysis by incorporating the inferred cluster scores as a covariate or after removal of outlier individuals identified by STRUCTURE. These results suggest that common AGGF1 variants confer risk of KTS.

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Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

Cited by 63 publications

References 19 publications

Patients with Klippel-Trenaunay syndrome

Patients with Klippel-Trenaunay syndrome

Conus Medullaris-Cauda Arteriovenous Malformation and Klippel-Trenaunay Syndrome: What is the Treatment Goal?

Identification of Association of Common AGGF1 Variants with Susceptibility for Klippel‐Trenaunay Syndrome Using the Structure Association Program

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