Small bowel adenocarcinoma (SBA) is a rare cancer in the general population, but the incidence increases in patients with Lynch syndrome. The present case describes a 57-year-old white woman with a history of colon cancer status posthemicolectomy and diagnosis of Lynch syndrome. Twenty years after her operation, the patient presented with vague abdominal discomfort and constipation, and underwent an exploratory laparotomy which revealed a stage 3A SBA. Genetic testing of the specimen provided evidence of microsatellite instability and faulty DNA repair supporting aetiology of Lynch syndrome. This case is unique in that SBA, if present in patients with Lynch syndrome, is usually a presenting symptom and has not been widely described in literature as an occurrence so many years after. As a result, this case highlights the importance of a low threshold for a thorough evaluation in patients with Lynch syndrome who present with signs of small bowel obstruction.

Sertoli-Leydig cell tumour (SLCT) is a rare, androgen-secreting sex cord-stromal tumour of the ovary that usually occurs in young premenopausal women. The major clinical manifestations are virilisation and defeminisation. The following case describes an 88-year-old G1P1 woman, 40 years after menopause, who presented with flushing, hirsutism, voice changes and alopecia along with significantly elevated levels of testosterone. Postoperative report revealed a well-differentiated SLCT in the left ovary. This case is unique in that SLCT is a very rare cancer and even more so in an 88-year-old woman. Taking this case into consideration, it becomes reasonable to check androgen and oestrogen levels in postmenopausal women, not only in patients with signs of virilisation, but also in those with non-classical presentations, such as flushing or heat spells.

Background Cystic fibrosis (CF) is characterized by recurrent pulmonary exacerbations (PEx) and lung function decline. PEx are frequently treated with antibiotics. However, little is known about the cumulative effects of antibiotics on the airway microbiome of persons with CF over time. The purpose of this study was to evaluate changes in the microbiome and lung function in persons with CF over one-year following an initial study pulmonary exacerbation (iPEx). Methods Twenty children with CF ≤18 years of age were enrolled in the study which occurred prior to the routine administration of highly effective modulator therapy. Respiratory samples and spirometry were obtained at a minimum of quarterly visits and up to 1-year after an iPEx. Metagenomic sequencing was performed, and bacterial taxa were assigned using MetaPhlAn 2.0. Paired t test, ANOVA, and GLS regression were used to compare outcome variables. Results The mean (±SD) age of study participants at the time of the iPEx was 10.6 years. There was 3 ± 1.6 PEx treated with antibiotics per person with CF during the study period. Bacterial richness was similar at 1 year compared to iPEx (40.3 vs 39.3, p = 0.852), whereas the mean Shannon diversity index was significantly higher at one year (2.84 vs 1.62, p < 0.001). The number of PEx treated with IV or oral antibiotics over the year was not associated with changes in microbial diversity but was associated with changes in ppFVC (p < 0.001). Conclusions In our one-year prospective evaluation of children with CF hospitalized for IV antibiotic treatment of an initial PEx we found microbial diversity increased despite decreases in lung function associated with repeated PEx events requiring antibiotic therapy.

Acute erythroid leukemia (AEL) is a rare subtype of pediatric acute myeloid leukemia (AML) and is associated with a poor prognosis. [1][2][3] AEL can be primary, therapy related or secondary to other myeloid neoplasms, and can be subclassified as pure erythroid or mixed erythroid/myeloid leukemia, with the former having a poorer prognosis. 1,4 The genetic basis of AEL remains poorly defined, but previous genomic studies of adult and pediatric AELs identified enrichment of NUP98rearrangement and a wide spectrum of somatic mutations including high frequency of TP53 mutations. [4][5][6][7] Children Oncology Group (COG) reported recurrent NUP98-rearrangements in approximately 32% and the presence of complex karyotypes (≥3 abnormalities) in 29% of AEL patients (n = 24), but the majority lacked recurrent genetic abnormalities. 1 Although novel genetic abnormalities have been rarely reported in single case reports, 8,9 further studies on genetic abnormalities and immunophenotypes are warranted. Here, we report two AEL cases with novel chromosomal translocations.Patient 1 was a 2-month-old male, with sickle cell trait, who presented with a right shoulder mass. Biopsy showed diffuse infiltrate of atypical tumor cells, positive for CD43, CD71, GLUT1, and E-Cadherin by immunostain. The bone marrow aspirate (BMA) showed 81% blasts, morphologically compatible with erythroblasts. Flow cytometry confirmed the diagnosis of AEL with variable monocytic antigen expression of CD14. A fusion gene of CIC::NUT2MA was detected by next-generation sequencing (NGS). He received induction chemotherapy as per the standard arm of COG AAML1831 protocol and was minimal residual disease (MRD) negative on BMA at end of induction (EOI). Radiographic imaging showed marked response in the extramedullary disease burden at the EOI. Unfortunately, he died of disease progression 3 months following diagnosis. Patient 2 was a 2-year-old female, with bilateral hypoplastic thumbs but negative Fanconi Anemia work-up, who presented with pancytopenia. BMA identified 76% blasts, with a morphology compatible with erythroblasts. Flow cytometry identified abnormal blasts with erythroid (CD71, CD235a) and myeloid and monocytic differentiation (CD117, HLADR, CD64, CD14). The cytogenetic karyotyping showed 48,XX,t(1;8)(p34;q22),del(3)(p13p21),+6,+19 [13]/46,XX [7].

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