Prenatal detection of disseminated extrarenal malignant rhabdoid tumor with placental metastases

Schenone, Claudio V; King, Alice; Castro, Eumenia; Ketwaroo, Pamela M.; Donepudi, Roopali; Sanz-Cortés, Magdalena

doi:10.1002/uog.22136

Cited by 5 publications

(4 citation statements)

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“…The prognosis of children with renal rhabdoid tumors is extremely poor 15 as the majority of affected children were known to have metastases to lymph nodes, brain, lungs, or liver. 16 Literature quotes several cases of extrarenal malignant rhabdoid tumor with renal metastasis 4 16 17 18 19 20 21 22 23 ( Table 1 ). However, no cases of prenatally diagnosed malignant renal rhabdoid tumors with subcutaneous extension have been reported in the literature thus far, to the best of our knowledge.…”

Section: Discussionmentioning

confidence: 99%

“…2 A rapid increase in size and rarely features of metastases may help in making the diagnosis of a malignant tumor. 3,4 We describe here a case of a unilateral renal tumor with subcutaneous extension and concomitant polyhydramnios at 33 weeks, 5 days of gestation. Postnatally, it proved to be a highly malignant rare renal neoplasm, a rhabdoid tumor with malignant components.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis of Renal Rhabdoid Tumor: A Rare Malignant Neoplasm

Berwal,

Krishnan,

Eapen

et al. 2024

Journal of Fetal Medicine

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Rhabdoid tumors of the kidney are highly lethal malignancies of infancy. We report the prenatal detection of this renal tumor in a fetus in the third trimester of pregnancy. Ultrasonologically, the tumor appeared as a large mass in the left renal area associated with severe polyhydramnios. Though the sonographic features alone did not allow distinction from a benign lesion, tumor extension into the subcutaneous plane favored the possibility of a malignant renal tumor and this was confirmed postnatally on histopathology.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of Renal Rhabdoid Tumor: A Rare Malignant Neoplasm

Berwal,

Krishnan,

Eapen

et al. 2024

Journal of Fetal Medicine

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“…RTPS appear to be characterized by a few clinical features: Tumors may be detected pre- [ 11 ] or perinatally [ 12 ]; RTPS is diagnosed in about 66 to 80% of patients with congenital MRT [ 12 , 13 ]. Patients with RTPS are diagnosed at a median age of four to seven months (range: prenatally—60 months) compared to individuals with sporadic MRT (median age around 18 months, range: age 1 day—228 months) [ 14 , 15 ]; almost all cases of MRT with germline mutations will be confirmed before the age of 2 years (Fig.…”

Section: Rtps1 and Rtps2: Current Knowledgementioning

confidence: 99%

“…Tumors may be detected pre- [ 11 ] or perinatally [ 12 ]; RTPS is diagnosed in about 66 to 80% of patients with congenital MRT [ 12 , 13 ].…”

Section: Rtps1 and Rtps2: Current Knowledgementioning

confidence: 99%

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

et al. 2021

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The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future.

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