Long‐term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis

Ochiai, Kayo; Yamada, Akihiro; Kimoto, Yasuhiro; Imamura, Hideaki; Ikeda, Toshio; Matsukubo, Makoto; Ieiri, Satoshi; Moritake, Hiroshi

doi:10.1002/pbc.27804

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…Patients are also at increased risk of developing rhabdomyosarcoma and leukemia (18). Patients with premature chromatic separation/mosaic variegated aneuploidy have the additional risks of cataracts, seizures, and polycystic kidneys (19).…”

Section: High Risk Syndromesmentioning

confidence: 99%

“…Long-term remission was described for a boy with premature chromatid separation/mosaic variegated aneuploidy following bilateral nephrectomy. This became his only option after a severe response to chemotherapy (19). Finally, children who undergo nephron-sparing or unilateral nephrectomy with WT1-related nephropathy should undergo removal of remaining renal tissue when there is no further function to prevent later development of metachronous WT (21).…”

Section: Treatmentmentioning

confidence: 99%

“…The genetic anomalies seen in patients with mosaic variegated aneuploidy may complicate chemotherapeutic regimens, increasing their risk of intolerable side effects or secondary malignancy. Similarly, radiation damage may be more difficult for these individuals to repair (19). Children with WT and Fanconi anemia are likewise difficult to treat.…”

Section: Treatmentmentioning

confidence: 99%

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Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Liu¹,

Suson²

2020

Transl Androl Urol

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Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are responsible for 9-17% of all cases of the malignancy. Due to an earlier age at WT diagnosis and an increased incidence of bilateral and metachronous disease, management of syndromic WT warrants a distinct approach from that of non-syndromic WT. This review of English-language manuscripts about WT focuses on the most common syndromes, surveillance protocols and current treatment strategies. Highlighted syndromes include those associated with WT1, such as WAGR (Wilms-Aniridia-Genitourinary-mental Retardation), Denys-Drash syndrome (DDS), and Frasier syndrome, 11p15 defects, such as Beckwith-Wiedemann syndrome (BWS), among others. General surveillance guidelines include screening renal or abdominal ultrasound every 3-4 months until the age of 5 or 7, depending on the syndrome. Further, some of the predisposing conditions also increase the risk of other malignancies, such as gonadoblastoma and hepatoblastoma. With promising results for nephron-sparing surgery in bilateral non-syndromic WT, there are increasing reports and recommendations to pursue nephron-sparing for these patients who are at greater risk of bilateral, metachronous lesions. In addition to the loss of renal parenchyma from malignancy, many patients are at risk of developing renal insufficiency as part of their syndrome. Although there may be some increase in the complication rate, recurrence free survival seems equivalent. Some conditions require specialized approaches to adjuvant therapy, as their syndrome may make them especially susceptible to side effects.

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Section: High Risk Syndromesmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

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Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Liu¹,

Suson²

2020

Transl Androl Urol

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Dactinomycin

2019

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Bilallelic germline mutations inMAD1L1induce a novel syndrome of aneuploidy with high tumor susceptibility

Villarroya-Beltrí

Osorio

Torres-Ruíz

et al. 2022

Preprint

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Aneuploidy is a frequent feature of human tumors. Germline mutations leading to aneuploidy are very rare in humans, and their tumor-promoting properties are mostly unknown at the molecular level. We report here novel germline biallelic mutations in MAD1L1, the gene encoding the Spindle Assembly Checkpoint (SAC) protein MAD1, in a 36-year-old female with a dozen of neoplasias, including five malignant tumors. Functional studies in peripheral blood cells demonstrated lack of full-length protein and deficient SAC response, resulting in ∼30-40% of aneuploid cells as detected by cytogenetic and single-cell (sc) DNA analysis. scRNA-seq analysis of patient blood cells identified mitochondrial stress accompanied by systemic inflammation with enhanced interferon and NFkB signaling. The inference of chromosomal aberrations from scRNA-seq analysis detected inflammatory signals both in aneuploid and euploid cells, suggesting a non-cell autonomous response to aneuploidy. In addition to random aneuploidies, MAD1L1 mutations resulted in specific clonal expansions of γδ T-cells with chromosome 18 gains and enhanced cytotoxic profile, as well as intermediate B-cells with chromosome 12 gains and transcriptomic signatures characteristic of chronic lymphocytic leukemia cells. These data point to MAD1L1 mutations as the cause of a new aneuploidy syndrome with systemic inflammation and unprecedented tumor susceptibility.

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Long‐term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis

Cited by 4 publications

References 15 publications

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Dactinomycin

Bilallelic germline mutations inMAD1L1induce a novel syndrome of aneuploidy with high tumor susceptibility

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