Mutational profiling of myeloid neoplasms associated genes may aid the diagnosis of acute myeloid leukemia with myelodysplasia-related changes.

AML with myelodysplasia-related changes (AML-MRC) is a subtype of AML known to have adverse prognosis. The karyotype abnormalities in AML-MRC have been well established; however, relatively little has been known about the role of gene mutation profiles by next generation sequencing. 177 AML patients (72 AML-MRC and 105 non-MRC AML) were analyzed by NGS panel covering 53 AML related genes. AML-MRC showed statistically significantly higher frequency of TP53 mutation, but lower frequencies of mutations in NPM1, FLT3-ITDLow, FLT3-ITDHigh, FLT3-TKD, NRAS, and PTPN11 than non-MRC AML. Supervised tree-based classification models including Decision tree, Random forest, and XGboost, and logistic regression were used to evaluate if the mutation profiles could be used to aid the diagnosis of AML-MRC. All methods showed good accuracy in differentiating AML-MRC from non-MRC AML with AUC (area under curve) of ROC ranging from 0.69 to 0.78. Additionally, logistic regression indicated 3 independent factors (age and mutations of TP53 and FLT3) could aid the diagnosis AML-MRC. Using weighted factors, a AML-MRC risk scoring equation was established for potential application in clinical setting: +1x(Age ≥ 65) + 3 x (TP53 mutation) - 2 x (FLT3 mutation). Using a cutoff score of 0, the accuracy of the risk score was 0.76 with sensitivity of 0.77 and specificity of 0.75 for predicting the diagnosis of AML-MRC. Further studies with larger sample sizes are warranted to further evaluate the potential of using gene mutation profiles to aid the diagnosis of AML-MRC.

Extramedullary Plasmacytoma Causing Myelopathy Resulting in Gait Imbalance.

Plasmacytomas are neoplasms of plasma cells that can involve the bone marrow, the bone itself, or soft tissue without bone marrow involvement. Extramedullary plasmacytomas are most commonly found in the upper respiratory tract in a total of 80% of all cases. Extramedullary plasmacytomas have also been documented in locations such as the central nervous system. This form of plasmacytoma may be seen as a solitary entity or in patients with multiple myeloma. We present a case of a 66-year-old female with a history of multiple myeloma on maintenance therapy with lenalidomide who has been experiencing gait imbalance for the past two months. The patient had a thoracic MRI done that revealed a mass at T7-8 with associated cord compression. She was taken for surgical intervention by neurosurgery. Pathology revealed trabecular bone and cartilage infiltrated by sheets of plasma cells highlighted by immunostaining CD138, monoclonal lambda light chains, consistent with a plasma cell neoplasm (plasmacytoma). The patient's hospital course was complicated by hypotension resulting in transient ischemic myelopathy that was addressed in the neuro-intensive care unit. The patient was then discharged to an inpatient rehabilitation center. She would follow up with her primary oncologist for localized radiation therapy.

Tongue swelling as a manifestation of tongue metastasis from pulmonary sarcomatoid carcinoma: A case report.

BACKGROUND: Sarcomatoid carcinoma is a rare subtype of non-small-cell lung cancer, commonly associated with locally advanced disease, early metastasis, and poor prognosis. Tongue metastasis from lung cancer is a rare condition that may occur in advanced stage of the disease. CASE SUMMARY: The patient was a 70-year-old female with a history of resected pulmonary sarcomatoid carcinoma (PSC) who presented with subacute tongue swelling, imparting the clinical impression of a lingual abscess. However, histologic examination of the partial glossectomy revealed a high-grade, poorly differentiated spindle and epithelioid carcinoma consistent with metastatic PSC. CONCLUSION: Although uncommon, clinicians should be cognizant of the possibility of a metastatic process to the tongue mimicking a benign or inflammatory process. A high index of suspicion for metastatic disease should be maintained when tongue swelling is observed in patients with a known history of PSC.

Extramedullary Plasmacytoma Involving the Heart: A Case Report and Focused Literature Review.

Cardiac tumors are extremely rare. Here, we report an unusual case of cardiac plasmacytoma that occurred 11 years after complete remission of the original multiple myeloma (MM). The tumor primarily manifested as a solitary extramedullary plasmacytoma (SEP) with extensive infiltration into the heart and large vessels. There was no evidence of systemic involvement. The relapsing tumor assumed a unique immunophenotype from CD138+/CD38+/CD56- to CD138-/CD38+/CD56-. The patient responded to chemotherapy consisting of carfilzomib, cyclophosphamide, and dexamethasone. This case highlights the importance of multimodal imaging evaluation and tissue diagnosis for accurately characterizing this rare disorder.

Most Common Pathway of Metastasis of Rectal Signet Ring Cell Carcinoma to the Skin: Hematogenous.

Liver represents the most common site of metastasis in patients with advanced colorectal cancer (CRC). Cutaneous metastasis is uncommon and has been documented only in 3% of patients. Most cutaneous metastases demonstrate typical histological features of adenocarcinoma, such as glandular formation and mucin production. We present the case of a 66-year-old male with Crohn's disease (CD) and stage IV rectal signet ring cell carcinoma arising in his rectal stump who presented with a painful papular bilateral groin rash. Biopsy revealed metastatic signet ring cell carcinoma. Since cutaneous metastasis in patients with advanced CRC can be easily confused with infection, especially fungal infection, physicians should be vigilant of the possibility of cutaneous metastasis. Our literature review suggests hematogenous spread as the dissemination pathway of this histological subtype of rectal adenocarcinoma to the skin. We present the first case of cutaneous metastatic signet ring cell carcinoma from a rectal stump of a patient with CD.