Partly molar pregnancies that are not partial moles: additional possibilities and implications.
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Biomarkers, Tumor↗
Biomedical subjects
N J Sebire
Publications and source records attributed to N J Sebire.
Short communication: trophoblast proliferation is increased in chorionic villi from pregnancies with fetal trisomy 18.
Pregnancies with fetal trisomy 18 suffer from severe intrauterine growth restriction from the first trimester. This cross-sectional study of chorionic villi obtained from ongoing singleton pregnancies at 10-14 weeks of gestation, semiquantitatively examines chorionic villus stromal and trophoblastic cell proliferation rates in ongoing chromosomally normal and trisomy 18 pregnancies. Chorionic villi were stained using a standard immunohistochemistry protocol with a monoclonal antibody to the Ki-67 antigen and the number of Ki-67 positive trophoblastic and stromal cells per villous cross-section was compared between groups. The number of Ki-67 positive trophoblastic and stromal cells was significantly higher in the group (n=10) with trisomy 18 compared to the chromosomally normal group (n=25;t=2.1, P=0.03 and t=5.3, P<0.001 respectively). Abnormalities in control of cell turnover during development may be important in the pathogenesis of the clinical features of trisomic pregnancies.
Adult↗
Extravillus endovascular implantation site trophoblast invasion is abnormal in complete versus partial molar pregnancies.
This study examines endovascular trophoblast invasion in pregnancies complicated by complete hydatidiform mole (CM), partial hydatidiform mole (PM) and non-molar abortions (HA). Two hundred consecutive cases from a supra-regional referral centre for suspected trophoblastic disease were examined histologically with particular regard to the presence or absence of endovascular trophoblast invasion of decidual vessels. There were 57 CM, 75 PM and 68 HA. The prevalence of normal endovascular invasion of decidual vessels was significantly lower in CM compared to all other clinical groups, amongst which there were no significant differences. Endovascular trophoblast was identified in about 80 per cent of HA and PM moles, compared to only around 25 per cent of CM (Z = -4.0, P< 0.0001). The majority of cases of complete mole demonstrated a similar appearance, of implantation site showing florid interstitial extravascular trophoblast invasion with surrounding of decidual vessels but without normal endovascular trophoblast invasion or 'plugging' seen. In many cases, there also appeared to be destruction of decidual vessels with interstitial haemorrhage and extensive fresh blood clot present in the histological sections. These findings may provide some explanation regarding the mechanism of clinical findings in molar pregnancy.
Decidua↗
Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens.
Neuronal ceroid lipopofuscinosis (Batten disease, NCL) represents a group of common childhood neurodegenerative diseases with a shared feature of deposition of abnormal metabolic products in neurons and other tissues, including peripheral blood lymphocytes. In most forms of NCL no specific enzyme defect is known and the diagnosis relies primarily on ultrastructural identification of characteristic membrane-bound inclusions containing the abnormal metabolic product. All buffy-coat specimens examined during a 7-year period (1997-2004) for the exclusion or confirmation of the diagnosis NCL were reviewed. From a total of 265 samples, 9 were inadequate and NCL was diagnosed in 56. Five showed granular osmophilic deposits of infantile Batten disease (NCL1), 10 showed curvilinear profiles of classical late infantile Batten disease (NCL2), and 17 showed vacuolated lymphocytes with fingerprint profiles, indicating classical juvenile Batten disease (NCL3). 24 samples (43%) demonstrated compact electron-dense deposits with fingerprint profiles in the absence of vacuolated lymphocytes, indicative of variant forms NCL. Ultrastructual examination of peripheral blood allows reliable and specific diagnosis of subtypes of Batten disease, including variants, and is a useful, minimally invasive test for the diagnosis of NCL in childhood.
Ceroid↗
Sacrococcygeal tumors in infancy and childhood; a retrospective histopathological review of 85 cases.
This study retrospectively examines the spectrum of sacrococcygeal tumors reported in a tertiary paediatric pathology department during a 15-year period. There were 85 sacrococcygeal tumors identified in total, including 79 (93%) sacrococcygeal germ cell tumors, of which 62 (78%) were benign, whereas 17 (22%) contained malignant yolk sac tumor elements. The median age at examination in cases with malignant elements present was significantly greater than in those with benign sacrococcygeal teratoma only (median 2 years, range birth--3 years versus median 1 week, range birth--10 years, respectively; p < .01). Of the 85 cases of total sacrococcygeal lesions 6 (7%) represented pathologies other than sacrococcygeal teratoma, including one case each of neuroblastoma, ganglioneuroma, myxopapillary ependymoma, primitive neuroectodermal tumor, lipomatous tumor, and unclassifiable inflammatory tumor. Of these 6 cases 3 were malignant (50%) compared with 17 of the 79 cases of sacrococcygeal germ cell tumors (22%; Z =1.59, p = .08). The median age in the group of non-germ-cell sacrococcygeal masses was 3 years (range 5 months to 13 years).
Adolescent↗
Massive cardiac chondroma presenting with heart failure and superior vena cava obstruction in a teenage boy.
Histologically benign soft-tissue chondromas have been reported at many anatomical sites but are an uncommon cause of soft tissue mass lesions in childhood, accounting for less than 1% of cases. The most frequent sites for extraosseous soft-tissue chondromas are the hands and feet. For the extremely rare visceral chondromas, the site can be lung, where they may represent a component of Carney's syndrome of extra-adrenal paraganglioma, pulmonary chondroma, and epithelioid leiomyosarcoma of the gastrointestinal tract. Primary cardiac chondromas are exceptionally rare in patients of any age although cardiac chondrosarcoma, both primary and metastatic, is well reported. We present a case of a teenage boy with a fatal cardiac chondroma
Adolescent↗
Isolated unilateral tuberous sclerosis-associated renal cystic disease in a neonate.
We present a male infant with antenatally detected, focal, unilateral apparently isolated renal cystic disease with morphological features of renal involvement in tuberous sclerosis. Only one previous case with similar presentation has been described. Most affected children present with either diffuse bilateral renal cystic disease or extrarenal manifestations. The major genes involved in tuberous sclerosis are now well described, and early onset of severe renal cystic disease in affected children often is related to the presence of a contiguous gene deletion syndrome involving TSC2 and PKD1 on chromosome 16.
Female↗
Intraplacental choriocarcinoma: experience from a tertiary referral center and relationship with infantile choriocarcinoma.
The development of persistent gestational trophoblastic disease following an apparently uncomplicated term pregnancy is well-recognized; however, reports of confirmed intraplacental choriocarcinoma are rare. We report four cases of histologically reviewed intraplacental choriocarcinoma occurring in third-trimester pregnancies from the files of a regional trophoblastic disease unit. In all cases, macroscopic examination of the placenta appeared unremarkable, with small nondescript lesions being identified, thought to be fresh infarcts or intervillus thrombi. Histological examination demonstrated the presence of focal intraplacental choriocarcinoma. Review of the literature demonstrates primary intraplacental choriocarcinoma rarely may be associated with obstetric complications such as intrauterine death or fetal distress. But in most cases, the disease is initially asymptomatic, the diagnosis only being made following histopathological placental examination for other indications. Intraplacental choriocarcinoma may therefore manifest as a spectrum of clinical disease ranging from an incidental lesion diagnosed on placental pathological examination with no adverse effects on mother or baby, through to metastatic maternal disease that is present in about half of the cases, to disseminated fatal infantile choriocarcinoma.
Adult↗
Anaplastic large cell lymphoma with ALK expression and presence of the t(2;5) translocation in a 5-month-old infant.
Anaplastic large cell lymphoma (ALCL) is a well-recognized subtype of non-Hodgkin lymphoma in childhood. Several series report experience with the diagnosis and management of pediatric ALCL, the average age at diagnosis being 8 to 16 years, with a reported range of 1 to 15 years. We present a case of ALCL affecting a 5-month-old infant in whom the diagnosis was confirmed by the nuclear and cytoplasmic immunohistochemical expression of ALK1, in addition to the presence of classical t(2;5)(p23;q35) translocation detected using reverse transcriptase-polymerase chain reaction. This is the youngest case of ALCL thus far reported and hence expands the spectrum of infantile lymphoproliferative disorders.
Activin Receptors, Type I↗
Posttransplant de novo membranous nephropathy in childhood.
Posttransplant proteinuria is a recognized, but relatively uncommon, presentation of renal transplant dysfunction. Significant proteinuria occurs in around 10-15% of renal transplant recipients. We present a case of de novo posttransplant membranous nephropathy in childhood complicating renal transplantation for severe congenital obstructive uropathy and review the pathology, pathogenesis, and clinical implications of this condition. In the majority of cases, the cause of posttransplant proteinuria is either related to chronic allograft nephropathy or recurrence of the glomerulonephritis for which transplantation was indicated. In a minority, however, de novo posttransplant membranous nephropathy (DNPMN) is identified on biopsy. The histopathological findings in some cases may either be similar to those of classical membranous nephropathy, or may be more subtle, showing focal segmental variation in severity, often in conjuction with the features of chronic allograft nephropathy. The use of ancillary techniques including immunohistochemistry and electron microscopy may be required to confirm the diagnosis. The presence of posttransplant de novo membranous nephropathy may be associated with an increased risk of graft loss.
Adolescent↗
Melanotic neuroectodermal tumor of infancy: clinical, radiological, and pathological features.
We present a case of a 4-month-old female infant with a maxillary melanotic neuroectodermal tumor of infancy (MNTI) and review the pooled data from previous publications on this entity. The literature to date comprises 378 reported cases from 1918 to the present, from which data on the presence or absence of metastatic disease was available in 311, and on the presence or absence of local recurrence in 165. These pooled data suggest a local recurrence rate of 36% with metastasis occurring in 7% of cases. At present, the optimal management includes complete surgical excision with clear margins, but there are no reliable histopathological or molecular features to predict the biological behavior in individual cases.
Antigens, Neoplasm↗
Risk of germ cell malignancy in children with XY intersex versus isolated cryptorchidism by immunohistochemistry.
The risk of subsequent development of testicular germ cell neoplasia is related to presence of underlying developmental defects such as cryptorchidism, in which the risk is around 0.5%, and XY intersex with abdominal testes, in which the risk may be as high as 20-25%. We examined the hypothesis that the increased risk of germ cell malignancy in intersex testes with Y chromosome was a direct consequence of an abnormal increase in number of PLAP/CD117+ immature germ cells into postnatal life. Archival cases of uncomplicated cryptorchidism (CO) and XY intersex (INT) were identified and anonymized, and a subgroup of aged-matched cases had sections immunostained with placental alkaline phosphatase (PLAP) and CD117. From a total of 89 intersex and 105 cryptorchid cases identified, a power calculation to detect a 20% difference in expression between groups (alpha = 0.05, power = 80%) determined that 18 intersex and 36 cryptorchid cases were required. Thus, 58 cases were examined, median age 3 (range birth-11) years, including 39 CO and 19 INT. The prevalence of any PLAP+ germ cells was 2/39 (5.1%) versus 3/19 (15.7%), respectively. (Z = 1.4, p = 0.17). In contrast, 94% of cases showed presence of any CD117+ germ cells, but the frequency of CD117+ cells was not significantly different between groups (t = 0.56, p = 0.58). CD117 and PLAP identify different populations of germ cells in pediatric testes. The extent of increased risk of malignancy in XY INT is not simply related to increased numbers of immature PLAP+/CD117+ germ cells present; additional factors play a pathogenic role.
Adolescent↗
Histopathological features of testicular regression syndrome: relation to patient age and implications for management.
Testicular regression syndrome (TRS) represents a congenital condition in which no normal testicular tissue can be identified following exploration for a clinically impalpable testis. A spectrum of pathological findings may be present but there is little literature systematically examining these features. We searched a pediatric histopathology database to identify cases of TRS, and the histopathological findings were reviewed and pooled with those of all previously published smaller series. A total of 117 cases were identified during the period (1989-2004), median age 2 (range birth-12) years. In 52 (44%) a nodule was identified macroscopically, median maximum diameter 0.5 (range 0.1-2.0) cm. Microscopic hemosiderin-laden macrophages were present in 85 (73%), dystrophic calcification in 52 (44%), residual testicular tubules in 12 (10%), vas deferens in 71 (61%), and epididymal tissue in 39 (33%). The prevalence of hemosiderin laden macrophages and dystrophic calcification were significantly greater in cases < or =3 years (84% versus 64% and 55% versus 32%, respectively). But there was no significant difference in the frequency of other findings between the younger and older age groups; in particular, the presence of residual testicular tubules was similar (7% versus 13%, respectively). Furthermore, there was no significant correlation between identification of a macroscopically distinct nodule and presence of residual tubular structures, tubules being identified in 6 of the 65 cases in which no clearly identifiable nodule was seen macroscopically. The presence of hemosiderin-laden macrophages and foci of dystrophic calcification showed a positive association. TRS is associated with specific histopathological features, the findings being consistent with changes secondary to intrauterine testicular torsion. Residual testicular tubules are found in 10% of cases regardless of the presence or absence of a macroscopically identifiable nodule.
Age Factors↗
Primary thoracic myxoid variant of extrarenal rhabdoid tumor in childhood.
Primary extrarenal rhabdoid tumors (RT) are now recognized as a specific entity in pediatric oncological pathology practice. We present an unusual case of a small cell myxoid variant of a thoracic RT in an infant and highlight the importance of recent molecular developments in the diagnosis of these tumors. An 8-month-old child presented with a short history of cough and shortness of breath. Imaging demonstrated a large mass occupying the majority of the thoracic cavity on the right side. A percutaneous needle biopsy of the mass showed fragments of tissue composed of malignant tumor with a predominant "small ovoid cell" phenotype and extensive myxoid change, with small nests and islands of tumor cells; occasional cells demonstrated open vesicular nuclei, prominent nucleoli, and eosinophilic cytoplasmic inclusions. Immunohistochemical staining revealed focal strong cytoplasmic positivity for cytokeratin, focal strong paranuclear cytoplasmic vimentin positivity, and INI1 staining showed normal nuclear positivity in control tissues but was negative in tumor cell nuclei. Electron microscopy demonstrated characteristic paranuclear whorls of intermediate filaments confirming the diagnosis of extrarenal malignant RT. The diagnosis of malignant rhabdoid tumor may be difficult, particularly in cases, such as the present, with a predominant small-cell myxoid phenotype. The characteristic expression patterns of cytokeratin and vimentin provide strong clues to the diagnosis, and the use of INI1 antibody now makes definitive diagnosis possible even on needle core biopsies.
Cell Nucleolus↗
Pathology teach and tell: pediatric gastrointestinal stromal tumor.
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Adolescent↗
Fetal mild hydronephrosis and chromosomal defects: relation to maternal age and gestation.
The presence of multiple ultrasonographic abnormalities is associated with a significantly increased risk of chromosomal defects, while for isolated abnormalities, the association is less clear. In a study of 1,177 fetuses with mild hydronephrosis at 16-26 weeks of gestation, the fetal karyotype was abnormal in 86 (7.3%) of the cases and the most common chromosomal defects were trisomies 21, 18 and 13. The frequency of chromosomal defects increased with the number of additional abnormalities and for each chromosomal defect there was a characteristic pattern of associated abnormalities. However, in the 805 fetuses with apparently isolated hydronephrosis there were 5 (0.62%) with trisomy 21. On the basis of the maternal age and gestational age distribution of the population the expected frequency of trisomy 21 was 0.40%, which was not significantly different from the observed (0.62%). To demonstrate that such a difference is significant, it would be necessary to investigate at least 1 million pregnancies. In the meantime, parents could be counselled that the presence of mild hydronephrosis does not increase significantly the risk that the fetus has trisomy 21. Alternatively, the risk is 1.6 times higher than the maternal age and gestational age-related risk.
Adolescent↗
Maternal age and gestational age-specific risk for chromosomal defects.
This study provides estimates of risks for a wide range of chromosomal defects taking into account maternal age as well as the gestation at assessment. The estimates make it possible to counsel patients presenting at different stages of pregnancy. At the same time, they offer the possibility of evaluating the efficacy of biochemical and ultrasonographic markers in identifying fetuses with chromosomal defects.
Adult↗
Updated diagnostic criteria for partial and complete hydatidiform moles in early pregnancy.
Hydatidiform moles are genetically abnormal conceptions which are associated with an increased risk of development of persistent trophoblastic disease and choriocarcinoma. With the introduction of ultrasound examination as part of the routine clinical management of early pregnancy complications, the majority of molar pregnancies are now evaluated in the first trimester before the classical clinical or pathological features have developed. Diagnosis of both complete and partial hydatidiform mole at this early stage of pregnancy requires the use of appropriate, updated histopathological features which are different from those described in later pregnancy.
Choriocarcinoma↗