WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests : Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma
Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. Case report. This 46, XY female had a 15.2 MB interstitial deletion of 11p14.1p11.2, which included WT1 and FSHB. No pathogenic abnormalities were identified in 156 other genes associated with disorders of sexual development. Bilateral gonadoblastomas were incidentally diagnosed at 17 months of age at the time of prophylactic gonadectomies. She was treated without biopsy for bilateral nephroblastomas radiologically identified at 18 months of age. Bilateral partial nephrectomies contained treated intralobular nephrogenic rests. Conclusion: It is unclear why WT1 deletions are less associated with 46, XY sex reversal than WT1 mutations. Treating suspected nephroblastomas without biopsy, even in patients with syndromes associated with bilateral nephroblastomas, may still lead to diagnostic and therapeutic uncertainties.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:42 |
|---|---|
| Enthalten in: |
Fetal and pediatric pathology - 42(2023), 1 vom: 24. Feb., Seite 63-71 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Craver, Randall [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 30.01.2023 Date Revised 02.02.2023 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1080/15513815.2022.2043962 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM337312419 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM337312419 | ||
| 003 | DE-627 | ||
| 005 | 20231225234129.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1080/15513815.2022.2043962 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1124.xml |
| 035 | |a (DE-627)NLM337312419 | ||
| 035 | |a (NLM)35199613 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Craver, Randall |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests |b Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 30.01.2023 | ||
| 500 | |a Date Revised 02.02.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. Case report. This 46, XY female had a 15.2 MB interstitial deletion of 11p14.1p11.2, which included WT1 and FSHB. No pathogenic abnormalities were identified in 156 other genes associated with disorders of sexual development. Bilateral gonadoblastomas were incidentally diagnosed at 17 months of age at the time of prophylactic gonadectomies. She was treated without biopsy for bilateral nephroblastomas radiologically identified at 18 months of age. Bilateral partial nephrectomies contained treated intralobular nephrogenic rests. Conclusion: It is unclear why WT1 deletions are less associated with 46, XY sex reversal than WT1 mutations. Treating suspected nephroblastomas without biopsy, even in patients with syndromes associated with bilateral nephroblastomas, may still lead to diagnostic and therapeutic uncertainties | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Sex-reversal | |
| 650 | 4 | |a WAGR | |
| 650 | 4 | |a gonadoblastoma | |
| 650 | 4 | |a nephroblastoma | |
| 650 | 4 | |a nephrogenic rests | |
| 650 | 4 | |a pre-biopsy chemotherapy | |
| 700 | 1 | |a Stark, Matthew |e verfasserin |4 aut | |
| 700 | 1 | |a Moss, Stephanie |e verfasserin |4 aut | |
| 700 | 1 | |a Long, Sarah |e verfasserin |4 aut | |
| 700 | 1 | |a Prasad, Pinki |e verfasserin |4 aut | |
| 700 | 1 | |a C Roth, Christopher |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Fetal and pediatric pathology |d 2004 |g 42(2023), 1 vom: 24. Feb., Seite 63-71 |w (DE-627)NLM150461623 |x 1551-3823 |7 nnns |
| 773 | 1 | 8 | |g volume:42 |g year:2023 |g number:1 |g day:24 |g month:02 |g pages:63-71 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1080/15513815.2022.2043962 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 42 |j 2023 |e 1 |b 24 |c 02 |h 63-71 | ||