Objectives
To examine flow cytometric (FCM) findings in clonal cytopenia of undetermined significance (CCUS) in relation to variant allele fraction (VAF) and mutation risk.
Methods
Nine FCM parameters, including 5 FCM metrics (Meyerson-Alayed scoring scheme [MASS] parameters) we previously used to identify myelodysplastic syndromes (MDS), were compared among 96 CCUS samples, 100 low-grade MDS samples and 100 samples from patients without somatic alterations (controls).
Results
FCM findings did not differ between CCUS samples with less than 20% VAF and controls. CCUS samples with more than 20% VAF (CCUS >20% VAF) demonstrated more than 1 abnormal FCM parameter at a frequency between MDS and controls. Abnormalities in CCUS with high-risk alterations (CCUS(hi)) were similar to MDS, with no statistical difference in the percentage of cases with more than 1 FCM abnormality or a positive MASS score. The positive predictive value (PPV) for clinically significant myeloid processes; MDS, CCUS(hi), and CCUS >20% VAF compared with other CCUS samples and controls was 94.8%, with 96.5% specificity and 61% sensitivity using a modified MASS score. A subset of MDS (43%) was distinguished from CCUS(hi) and CCUS >20% VAF using 3 parameters, with a 93.5% PPV and 83.3% specificity.
Conclusions
FCM abnormalities can distinguish high-risk CCUS based on VAF or alteration type from low-risk CCUS and MDS in many cases. The findings are of potential utility in the evaluation of patients with cytopenias.
Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare neoplasm. Immunohistochemically, GNET typically demonstrates neural differentiation but lacks melanocytic differentiation, making it distinct from clear cell sarcoma of the soft tissues (CCS). Herein we report for the first time the cytomorphologic features of lymph node metastasis from presumably liver GNET. A 36‐year‐old female presented with fevers, night sweats, loss of appetite, and a 20‐lbs weight loss. Radiographic imaging showed a 13 cm heterogeneously enhancing mass in the right lobe of the liver and a hypermetabolic 0.9 cm periportal lymph node on positron emission tomography–computed tomography (PET/CT). Initially, a CT‐guided liver biopsy was performed followed by right hepatic lobectomy and portal lymphadenectomy. The liver biopsy and resection showed an S100‐protein and SOX10 positive malignant neoplasm and genomic profiling of liver biopsy revealed EWSR1‐CREB1gene rearrangement. These findings in conjunction with the morphologic and immunohistochemical profile were diagnostic of GNET. Two months later, she presented with recurrent lymphadenopathy in the upper abdomen. Fine needle aspiration of the periportal nodal mass revealed single and clusters of primitive, large to medium‐sized neoplastic cells with round to oval nuclei, high nuclear‐cytoplasmic ratio, vesicular chromatin, and prominent nucleoli. The tumor cells were S100 protein and SOX10 positive, consistent with metastasis of the patient's recently diagnosed malignant digestive system GNET. Palliative chemotherapy was administered but the patient died a few days later, 4 months from the initial diagnosis. Awareness of this entity and judicial use of ancillary studies including molecular testing are essential for achieving accurate diagnosis.
INTRODUCTION:
Dilatation and curettage has remained the gold standard for evaluating postmenopausal bleeding. Office endometrial biopsy (EMB) is most times the first step in the investigation. Occasionally, however, the EMB results with insufficient tissue samples, which leads to additional interventions. We correlated EMB results with endometrial thickness and available follow up data to further investigate the presence of cancer.
METHODS:
We took a look at EMB done at our institution over a 12-month span that returned with insufficient tissue sample or scant tissue. For these patients, we also stratified a history of DM or HTN, BMI, and what subsequent procedure they had done afterward.
RESULTS:
We looked at 103 individuals who were 50+ years old with EMB that had insufficient tissue or scant tissue. We then looked at their follow up, specifically at following groups: no further invention, ultrasound, D&C or other surgical procedure. We found that 46 individuals (45%) had no further intervention, 9 women (9%) had a repeat biopsy within 3 months, 58 women (56%) had an ultrasound, 8 individuals (8%) underwent D&C, and 3 (3%) individuals opted for a hysterectomy. Out of these individuals, 1 individual who had a D&C done was diagnosed with endometrial adenocarcinoma. We found that the 58 individuals who had ultrasounds done, 43% of these individuals had an endometrial stripe that was >4mm. Of these 43% of individuals with an endometrial stripe over 4mm, only 4% had a diagnosis of cancer on after a hysteroscopy, D&C was done. This concludes that insufficient tissue samples on EMB rarely lead to serious endometrial pathology and despite endometrial thickness of >4mm on ultrasound done after this type of EMB, most individuals do not have any serious endometrial pathologies.
CONCLUSION:
Insufficient tissue samples on EMB rarely lead to serious endometrial pathology despite the comorbidities that increase the risk of endometrial carcinoma. Despite endometrial thickness of >4mm, most individuals did not have any serious endometrial pathologies.
Cystic trophoblastic tumor (CTT) is an uncommon trophoblastic proliferation of germ cell tumor origin, mostly reported in post-chemotherapy metastases of testicular germ cell tumors and rarely primary untreated testicular tumors. To date, we are not aware of occurrence in a non-testicular tumor. A 12-year-old boy presented with limb swelling, increased appetite, weight gain, and precocious puberty. Evaluation revealed right frontal lobe mass and elevated α-fetoprotein and β-human chorionic gonadotrophin. After response to neoadjuvant chemotherapy, the tumor was resected. Microscopically, the resection contained predominantly smooth muscle tissue with scattered small foci of glandular teratoma and CTT. Immunohistochemistry (SALL4, glypican 3) revealed no residual yolk sac tumor. Fluorescence in situ hybridization revealed gain of chromosome 12p. The patient has been disease-free for 13 years. This report expands the spectrum of primary central nervous system germ cell tumors with the occurrence of CTT in this site.
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