Klippel-Trénaunay Syndrome and Rhabdomyosarcoma in a 3-Year-Old

Fay, Aaron

doi:10.1001/archopht.121.5.727

Cited by 9 publications

(3 citation statements)

References 7 publications

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“…Thus, tumors types, sites of origin, and age of detection vary greatly and Cases reported by Mankad et al, 1974;Pendergrass, 1976;Ehrich et al, 1979;Howitz et al, 1979;Wirtz et al, 1993;Salman et al, 1993;Carter et al, 1995;Lezama-del et al, 1998;Bujanda et al, 2001;Fay et al, 2003, Chang et al, 2004 render screening difficult or impractical [Hersh et al, 1992]. Nevertheless, a protocol for monitoring SS patients is found in Table IX.…”

Section: Sotos Syndromementioning

confidence: 99%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

250

215

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Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

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Section: Sotos Syndromementioning

confidence: 99%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

250

215

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“…11 Haploinsufficiency of AGGF1 was attributed to CVLM development through inhibition of angiogenesis by inactivating phosphatidylinositol 3-kinase (PI3K) and AKT serine/threonine kinase 1 (AKT). 4,11,12 Additionally, the PIK3CA gene has also been reported to be responsible from the genotype of some of the patients with CVLM. 1,13 Somatic mutations in PIK3CA cause many overgrowth syndromes (particularly Cloves, fibro adipose hyperplasia and megalencephaly-capillary malformation) that have recently been identified as the PIK3CA-related overgrowth syndromes.…”

Section: Discussionmentioning

confidence: 99%

A rare case of Klippel-Trenaunay syndrome presenting with chronic myeloid leukemia

Coşkun¹,

Aksu²,

Gümrük³

et al. 2023

Turk J Pediatr

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Background. Klippel-Trenaunay syndrome (KTS) is an overgrowth syndrome associated with capillary/venous/ lymphatic malformations with limb hypertrophy and cancer risk. Various cancers, mostly Wilms tumor, have been reported in patients with KTS, but not leukemia. Chronic myeloid leukemia (CML) is also a rare disease in children, where there is no known disease or syndrome to predispose to CML.Case. We report a case of CML incidentally diagnosed in a child with KTS when he was bleeding from surgery of the left groin for vascular malformation.Conclusions. This case reflects the variety of cancer types that may accompany KTS and provides information about CML prognosis in such patients.

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“…In the literature there are casuistic reports on tumours associated with KTW syndrome, e.g., Hodgkin's lymphoma [1], rhabdomyosarcoma [2], squamous cell carcinoma of the skin [3], astrocytoma [4], meningioma [5], haemangiopericytoma [6] and angiosarcoma [7]. One patient has been described with Klippel-Trénaunay-Weber syndrome, who received previous radiation therapy to treat a benign haemangioma 1 year before the diagnosis of angiosarcoma [8].…”

Section: Discussionmentioning

confidence: 99%

Angiosarcoma With Malignant Peripheral Nerve Sheath TumourDeveloping in a Patient With Klippel–Trénaunay–Weber Syndrome

Ploegmakers

Pruszczyński

Rooy

et al. 2000

Sarcoma

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Purpose: We discuss the coexistence of Klippel-Trénaunay-Weber syndrome with various malignancies, the possible histogenetic pathways and therapeutic implications. Patient: We report on a 46-year-old man presenting with increasing pain and swelling of his right lower leg after fracturing his fibula. Since birth he was known as having the uncommon syndrome of Klippel-Trénaunay-Weber of his right lower leg. Methods: Our patient underwent an above-knee amputation for biopsy-proven malignant vascular tumour, first thought to be a composite hemangio-endothelioma and/or angiosarcoma with lung metastases. Results: In the amputated extremity, a vascular malformation was found with tumour showing various components with foci of angiosarcoma adjacent to diffuse neurofibroma and areas with high-grade malignant peripheral nerve sheath tumour. Amputation and palliative chemotherapy were indicated, but he died of pulmonary and cerebral metastases 2 months postoperatively. Discussion: This case describes an angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with Klippel-Trénaunay-Weber syndrome. A case never described before in literature and probably, as in our case, difficult to diagnose at first biopsy.

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Klippel-Trénaunay Syndrome and Rhabdomyosarcoma in a 3-Year-Old

Cited by 9 publications

References 7 publications

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

A rare case of Klippel-Trenaunay syndrome presenting with chronic myeloid leukemia

Angiosarcoma With Malignant Peripheral Nerve Sheath TumourDeveloping in a Patient With Klippel–Trénaunay–Weber Syndrome

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