Diagnosis and management of high risk gastrointestinal stromal tumor in first trimester pregnancy: A case report and review of the literature.

Objective: There are less than 20 reported cases of gastrointestinal stromal tumors in pregnancy. Of these reported cases, there are only two that detail GIST in the first trimester. We report our experience with the third known GIST diagnosis in the first trimester of pregnancy. Notably, our case report highlights the earliest known gestational age at time of GIST diagnosis. Methods: We conducted a literature review of GIST diagnosis in pregnancy via PUBMED, using a combination of the following terms: (pregnancy or gestation) and (GIST). We utilized Epic for chart review of our patient's case report. Results: A 24 year old G3P1011 presented to the Emergency Department at 4w6d by last menstrual period (LMP) with worsening abdominal cramping, bloating, and associated nausea. Physical exam revealed a large, mobile, nontender mass palpated in the right lower abdomen. Transvagianl ultrasound noted the presence of a large pelvic mass of unknown etiology. Pelvic magnetic resonance imaging (MRI) was obtained for further characterization, revealing a 7.3× 12.4 × 12.2 cm mass with multiple fluid levels, centered in the anterior mesentery. Exploratory laparotomy was performed with en bloc resection of small bowel and pelvic mass, with pathology demonstrating a 12.8 cm spindle cell neoplasm compatible with GIST and notable for a mitotic rate of 40 mitoses/50 high power field (HPF). Next generation sequencing (NGS) was pursued in order to predict tumor responsiveness to Imatinib, which revealed a mutation at KIT exon 11, suggesting a response to tyrosine kinase inhibitor therapy. The patient's multidisciplinary treatment team, consisting of medical oncologists, surgical oncologists, and maternal fetal medicine specialists, made the recommendation for adjuvant Imatinib therapy. The patient was offered termination of pregnancy with immediate initiation of Imatinib, as well as continuation of pregnancy with either immediate or delayed treatment. Interdisciplinary counseling focused on both the maternal and fetal implications of each proposed management plan. She ultimately elected termination of pregnancy, and underwent an uncomplicated dilation and evacuation. Conclusions: GIST diagnosis in pregnancy is exceedingly rare. Patients with high-grade disease encounter a multitude of decision-making dilemmas, often with competing maternal and fetal interests. As additional cases of GIST in pregnancy are added to the literature, clinicians will be able to implement evidence-based options counseling for their patients. Shared decision-making is contingent upon patient understanding of diagnosis, risk of recurrence, available treatment options, and the treatment-related implications on maternal and fetal outcomes. A multidisciplinary approach is crucial for optimization of patient-centered care.

Synthesis, decomposition studies and crystal structure of a three-dimensional CuCN network structure with protonated N-methylethanolamine as the guest cation.

The compound poly[2-hydroxy-N-methylethan-1-aminium [µ3-cyanido-κ3C:C:N-di-µ-cyanido-κ4C:N-dicuprate(I)]], {(C3H10NO)[Cu2(CN)3]}n or [meoenH]Cu2(CN)3, crystallizes in the tetragonal space group P43. The structure consists of a three-dimensional (3D) anionic CuICN network with noncoordinated protonated N-methylethanolamine cations providing charge neutrality. Pairs of cuprophilic Cu atoms are bridged by the C atoms of µ3-cyanide ligands, which link these units into a 43 spiral along the c axis. The spirals are linked together into a 3D anionic network by the two other cyanide groups. The cationic moieties are linked into their own 43 spiral via N-H...O and O-H...O hydrogen bonds, and the cations interact with the 3D network via an unusual pair of N-H...N hydrogen bonds to one of the µ2-cyanide groups. Thermogravimetric analysis indicates an initial loss of the base cation and one cyanide as HCN at temperatures in the range 130-250 °C to form CuCN. We show how loss of a specific cyanide group from the 3D CuCN structure could form the linear CuCN structure. Further heating leaves a residue of elemental copper, isolated as the oxide.

Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus.

Here we provide a detailed comparative analysis across the candidate X-Inactivation Center (XIC) region and the XIST locus in the genomes of six primates and three mammalian outgroup species. Since lemurs and other strepsirrhine primates represent the sister lineage to all other primates, this analysis focuses on lemurs to reconstruct the ancestral primate sequences and to gain insight into the evolution of this region and the genes within it. This comparative evolutionary genomics approach reveals significant expansion in genomic size across the XIC region in higher primates, with minimal size alterations across the XIST locus itself. Reconstructed primate ancestral XIC sequences show that the most dramatic changes during the past 80 million years occurred between the ancestral primate and the lineage leading to Old World monkeys. In contrast, the XIST locus compared between human and the primate ancestor does not indicate any dramatic changes to exons or XIST-specific repeats; rather, evolution of this locus reflects small incremental changes in overall sequence identity and short repeat insertions. While this comparative analysis reinforces that the region around XIST has been subject to significant genomic change, even among primates, our data suggest that evolution of the XIST sequences themselves represents only small lineage-specific changes across the past 80 million years.