Re: adrenal, enlarged, fetal
From: James S Smeltzer MD (gaperina@mindspring.com)
Thu Mar 11 04:50:18 1999
Dr Morader,
I agree this is an adrenal and appears large. I believe that the spleen is
seen in your first image lateral to it. The idea of fetal "stress" is an
interesting one. I would also rule out CAH, but the right should be also.
If it is truly unilateral, then a renal or adrenal tumor is likely. In the
fetal age group two come to mind: it should be followed for neuroblastoma
or possible Wilm's Tumor from that kidney, especially as some syndromes are
associated with it, and another anomaly is found:
Searching OMIM, for jejunal atresia we get:
------------------------------------------------------------------------
*243600 JEJUNAL ATRESIA
------------------------------------------------------------------------
602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA
--
------------------------------------------------------------------------
243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES
223400 DUODENAL ATRESIA
*243150 INTESTINAL ATRESIA, MULTIPLE
#118450 ALAGILLE SYNDROME; AGS
For Wilms' we get:
*194070 WILMS TUMOR 1; WT1
#194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM
*601583 WILMS TUMOR SUPPRESSOR LOCUS
*601363 WILMS TUMOR 4
*194071 WILMS TUMOR 2; WT2
*194090 WILMS TUMOR 3; WT3
*267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM
#194072 WAGR SYNDROME
*147470 INSULIN-LIKE GROWTH FACTOR II; IGF2
*106210 PAIRED BOX HOMEOTIC GENE 6; PAX6
#130650 BECKWITH-WIEDEMANN SYNDROME; BWS
*312173 QM GENE
*190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS
*115500 CATALASE; CAT
#137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD
235000 HEMIHYPERTROPHY
*145001 HYPERPARATHYROIDISM 2; HRPT2
*601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF
CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
*191100 TUBEROUS SCLEROSIS 1; TSC1
*180200 RETINOBLASTOMA; RB1
*136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB
#136680 FRASIER SYNDROME
*151250 LETHAL ANTIGEN--A1; AL-A1
*210900 BLOOM SYNDROME; BLM
*180410 RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1
*600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C
*168450 PARATHYROID HORMONE; PTH
223200 DISORGANIZATION, MOUSE, HOMOLOG OF
*256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
*103280 ADULT SKELETAL MUSCLE GENE
*143040 HUMAN LEUKOCYTE ANTIGEN MIC4; MIC4
#312870 SIMPSON DYSMORPHIA SYNDROME; SDYS
*167409 PAIRED BOX HOMEOTIC GENE 2; PAX2
*601936 PRKC, APOPTOSIS, WT1, REGULATOR; PAWR
*179780 RENAL DIPEPTIDASE
175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS
MALFORMATION
#171300 PHEOCHROMOCYTOMA
*164761 RET PROTOONCOGENE; RET
*184757 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1; FTZF1
*147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R
*601651 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 4; NAP1L4
#144700 RENAL CELL CARCINOMA 1; RCC1
*229100 FORMIMINOTRANSFERASE DEFICIENCY
231530 GLUCAGON DEFICIENCY, HYPOGLYCEMIA DUE TO
#300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS
*253250 MULIBREY NANISM; MUL
*114550 CANCER, HEPATOCELLULAR
#256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
*305400 FACIOGENITAL DYSPLASIA; FGD1
*600789 RIBOSOMAL PROTEIN L23-LIKE; RPL23L
...
For neuroblastoma, there are also many associations, but I did not find
jejunal atresia among them. This is still a #1 possibility:
*256700 NEUROBLASTOMA; NB
<Picture: Gene Map><Picture>
CLINICAL SYNOPSIS
Neuro :
Irritability
Polymyoclonus-opsoclonia syndrome
Nerve compression signs
GI :
Anorexia
Abdominal pain
Diarrhea
Misc :
Neuroblastoma
Regression of neuroblastoma to fibrocalcific residues
Neuroblastoma maturation to ganglioneuroma or neurofibroma
Tiredness
Weight loss
Irregular fever
Myasthenia gravis
Skin :
Sweating
Pallor
Bluish nodular skin lesions
Cafe-au-lait spots
Endocrine :
Hypertension
Diabetes insipidus
Hyperthyroidism
Heme :
Agranulocytosis
Thrombocytopenia
Anemia
Radiology :
Adrenal calcification
Posteromediastinal mass with calcification
Lab :
Elevated catecholamines
Elevated urine or blood dihydroxyphenylalanine (DOPA)
Elevated urinary vanillylmandelic acid (VMA)
Elevated urinary homovanillic acid (HVA)
Neuroblastoma association with an uncommon Gm phenotype
Chromosomal changes in human neuroblastoma cell lines: a long nonbanding
homogeneously staining region (HSR) or double minute chromosomes
Somatic loss of heterozygosity in segment 1p36.2-p36.1 in neuroblastomas
Frequent deletion (40%) distal to D14S13, of 14q32-qter
Inheritance :
Autosomal recessive
Title
Screening for Wilms' tumor in children with high-risk congenital syndromes:
considerations for an intervention trial.
Author
DeBaun MR; Brown M; Kessler L
Address
Genetic Epidemiology Branch, National Cancer Institute, National Institutes
of Health, Rockville, Maryland 20892-7372, USA.
Source
Med Pediatr Oncol, 27(5):415-21 1996 Nov
Abstract
Screening for cancer in children is uncommon. However, in children with
congenital syndromes associated with Wilms' tumor, conditions exist that
potentially make screening effective. This select population of children 1)
are relatively easily identified; 2) have a high incidence of Wilms' tumor;
3) if identified before development of Wilms' tumor, may have a decrement
in morbidity/mortality; and 4) are amenable to a simple and acceptable
screening technology, renal sonography exams. Many clinicians have
recommended screening for cancer in children with congenital syndromes
associated with Wilms' tumor. However, neither costs nor effectiveness of
such recommendations have been evaluated systematically. The strongest
evidence for or against Wilms' tumor screening in this select population
would be provided by a randomized screening trial. Prior to undertaking
such a trial, the key parameters that dominate the cost and effectiveness
of screening should be identified. Simulation models, such as cost
effectiveness analysis, offer a starting point for deciding whether cancer
screening is appropriate, and if so, under what set of conditions. We
review basic conditions required for a successful screening trial in
children with syndromes that are at increased risk of Wilms' tumor. We also
discuss the use of cost-effectiveness analysis as a preliminary step in
determining the feasibility of an intervention trial.
Language
Eng
Unique Identifier
96424606
The question I have, do any of these map to the region potentially affected
by a microdeletion (or duplication) associated with this inversion? Is
there a FISH marker?
Thankyou for this most interesting case. Let us know how it turns out!
Jim Smeltzer MD
At 04:39 PM 3/9/1999 -0600, you wrote:
>The images of the fetal adrenals from Italy are now up:
>http://www.obgyn.net/us/present/9903/moroder.htm
><http://www.obgyn.net/us/present/9903/moroder.htm>
>
>I would now ask Drs. Moroder and Copel to continue their discussion here in
>public.
>
>Anyone else ever seen images like this?
>
>Peace, Terry J. DuBose, M.S., RDMS, FAIUM
>University of Arkansas for Medical Sciences, USA
>Director, Diagnostic Sonography Program
>http://www.uams.edu/chrp/dmshome.htm <http://www.uams.edu/chrp/dmshome.htm>
>VOICE: 501-686-6510 FAX: 501-686-6513
>Chair, http://www.obgyn.net/us/us.htm <http://www.obgyn.net/us/us.htm>
>http://www.io.com/~dubose/ <http://www.io.com/~dubose/>
>Now is the time for all good folks to come to the aid of the Earth.
>----
>
