Bone marrow clonal hematopoiesis is highly prevalent in blastic plasmacytoid dendritic cell neoplasm and frequently sharing a clonal origin in elderly patients.

Myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) are reported in up to 20% patients with blastic plasmacytoid dendritic cell neoplasm (BPDCN), where a shared clonal origin is shown in individual case studies. In this study, we performed targeted next generating sequencing on multiple bone marrow (BM), skin or sorted cells from 51 BPDCN patients (68.7 years,14.

Determination of immunophenotypic aberrancies provides better assessment of peripheral blood involvement by mycosis fungoides/Sézary syndrome than quantification of CD26- or CD7- CD4+ T-cells.

Background: Blood involvement by mycosis fungoides (MF)/Sézary syndrome (SS) influences prognosis and therapeutic decisions. MF/SS blood stage is currently determined by absolute CD4 + CD26- or CD4 + CD7-cell counts, which quantification method may overestimate MF/SS by including CD26- or CD7- normal CD4+ T-cells, or underestimate disease burden when MF/SS cells show incomplete loss of CD26 and/or CD7. Recently, through the standardization effort led by the International Clinical Cytometry Society (ICCS), recommendation was made to quantify MF/SS by enumerating immunophenotypically aberrant CD4+ T-cells, rather than CD26- or CD7- in isolation.

Merkel cell carcinoma mimicking transformed chronic lymphocytic leukemia/small lymphocytic lymphoma.

Although MCC has been reported in patients with CLL/SLL, it is extremely rare to observe these two within the same tumor. MCC's positivity for PAX5 and TdT may pose a diagnostic challenge by mimicking transformed CLL/SLL. A thorough workup is critical in reaching the correct diagnosis.

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin macules, and absence of neurological anomalies. In the index case and three relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G > A, (p.

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.

Context: Nontoxic multinodular goiter (MNG) occurs frequently, but its genetic etiology is not well established. Familial MNG and MNG occurring with ovarian Sertoli-Leydig cell tumor are associated with germline DICER1 mutations. We recently identified second somatic DICER1 ribonuclease (RNase) IIIb mutations in two MNGs.

Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung.

Germ-line DICER1 mutations predispose to a distinctive tumour predisposition syndrome, the DICER1 syndrome, which is associated with a spectrum of rare mainly childhood-onset tumours. In 2014, a case of well-differentiated fetal adenocarcinoma of the lung (WDFA) was reported in a 16-year-old germ-line DICER1 mutation carrier. Here we report our finding of a characteristic somatic DICER1 RNase IIIb c.

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

Pleural ultrasound as an adjunct to physical examination in the preoperative evaluation of lung cancer patients.

Objectives: Preoperative evaluation of patients with suspected or confirmed lung cancer consists of clinical and radiological staging. Malignant pleural effusion is a poor prognosticator in non-small-cell lung cancer. Pleural ultrasound (PU) allows for the assessment of pleural effusion, providing real-time guidance for its aspiration and cytological analysis.

Prospective trial evaluating sonography after thoracic surgery in postoperative care and decision making.

Objective: Following thoracic surgery, daily chest X-rays (CXRs) are performed to assess patient evolution and to make decisions regarding chest tube removal and patient discharge. Sonography after thoracic surgery (SATS) has the potential to be an effective, convenient, inexpensive and easy to learn tool in the post-operative management of thoracic surgery patients. We hypothesized that SATS could alleviate the need for repetitive CXRs, thus reducing the related risks, costs and inconvenience.