Hamartomas, teratomas and teratocarcinosarcomas of the head and neck: Report of 3 new cases with clinico-pathologic correlation, cytogenetic analysis, and review of the literature

<p>Abstract</p> <p>Background</p> <p>Germ-cell tumors (GCT) are a histologically and biologically diverse group of neoplasms which primarily occur in the gonads but also develop at different extragonadal sites in the midline of the body. The head and neck region including the upper respiratory tract is a very rare location for such tumors in both children and adults, which can cause diagnostic and therapeutic difficulties.</p> <p>Methods</p> <p>We describe here two new cases of multilineage tumors including sinonasal teratocarcinosarcoma [SNTCS], and congenital oronasopharyngeal teratoma (epignathus) and compare their features with those of a new case of a rare salivary gland anlage tumor [SGAT], an entity for which the pathogenesis is unclear (i.e. hamartoma versus neoplasm). We correlate their presenting clinico-pathological features and compare histologic and cytogenetic features in an attempt to elucidate their pathogenesis and biologic potentials.</p> <p>Results and discussion</p> <p>Cytogenetic analysis revealed chromosomal abnormalities only in the case of SNTCS that showed trisomy 12 and 1p deletion. Both cytogenetic abnormalities are characteristically present in malignant germ cell tumors providing for the first time evidence that this rare tumor type indeed might represent a variant of a germ cell neoplasm. The SGAT and epignathus carried no such cytogenetic abnormalities, in keeping with their limited and benign biologic potential.</p> <p>Conclusion</p> <p>The comparison of these three cases should serve to emphasize the diversity of multilineage tumors (hamartomas and GCT) of the upper respiratory tract in regards to their biology, age of presentation and clinical outcomes. Malignant tumors of germ cell origins are more likely to affect adults with insidious symptom development, while benign tumors can nevertheless cause dramatic clinical symptoms which, under certain circumstances, can be fatal.</p

Maternal birthweight and outcome of twin pregnancy

The definitive version is available at www.blackwell-synergy.comThere is evidence from singletons that maternal birthweight is positively related to offspring gestational length and birthweight, and some evidence of an inverse relationship with preterm birth. Among twins very preterm birth is the major cause of neonatal mortality and of immediate and later morbidity, including neurodevelopmental impairment. We hypothesised that the relationship between maternal birthweight and gestational length would be more evident in twin than in singleton pregnancies, as there is more variation in gestation in the former. Among 131 singleton mothers carrying twins, there was weak evidence of a positive relationship between maternal birthweight and twin gestational length (+0.6 weeks [95% CI −0.05, +1.3] per kg increase in maternal birthweight, but stronger evidence among 56 of these who went into labour spontaneously (+1.9 weeks [+0.7, +3.1], P = 0.003 for interaction). In the latter group we estimated that the odds of very preterm birth (at <32 weeks) were reduced by 50% [95% CI 10%, 82%] per 250 g increase in maternal birthweight. In the whole cohort, and in this subgroup, maternal birthweight was strongly positively related to both twin offspring total birthweight and total placental weight. Our data, consistent with intergenerational programming of early development, suggest the possibility of a stronger and more clinically relevant association among twins than among singletons. Nevertheless, our sample size was modest and this finding needs to be confirmed in a larger cohort.Ruth Morley, Vivienne M. Moore, Terence Dwyer, Julie A. Owens, Mark P. Umstad and John B. Carli

Circular DNA intermediates in the generation of large human segmental duplications

Background: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments. Results: Here we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus. Conclusions: This novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution