Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.

Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies.

Fibroblast Growth Factor Receptor 3 Amplified Metastatic Melanoma Treated With Erdafitinib.

The treatment of metastatic melanoma has changed dramatically in the last decade with the introduction of immunotherapy and targeted therapy. A futile disease in the past is now treated with various options, resulting in improvement in progression-free and overall survivals, along with improvement in the quality of life. Having said that, the majority of patients with metastatic melanoma eventually succumb to the disease.

Palbociclib-Induced Pneumonitis: A Case Report and Review of the Literature.

The treatment of metastatic breast cancer has undergone significant changes in recent years. New classes of medications have been approved by the Food and Drug Administration (FDA) for use in clinical practice to extend progression-free survival and overall survival along with increasing response rate. Here, we present a case report of pneumonitis as a rare side effect of palbociclib in the treatment of metastatic hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative (ERBB2-) breast cancer in addition to endocrine therapy.

Current Clinical Trials in the Treatment of Advanced Melanomas.

The treatment of metastatic melanomas revolutionized during the past decade because of a better understanding of various pathways and mutations that play different roles in the pathogenesis of this disease. The incorporation of immunotherapy was the first in these efforts, followed by targeted therapies as monotherapeutic options, and then in combinations. In this article, we review the historical and landmark clinical trials that changed our treatment paradigm for advanced melanomas, also we review ongoing clinical trials that would be applicable in the near future and would expectedly improve outcomes for these patients.

MEK inhibitors for the treatment of NRAS mutant melanoma.

Melanoma is increasing rapidly in incidence and prevalence, especially in younger females and older males. Treatment options have expanded beyond high-dose interleukin 2 and adoptive T-cell therapy to include inhibitors of immune checkpoints programmed death 1 (PD-1) and cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and small molecular inhibitors of pathways activated in melanoma, in particular the mitogen-activated protein kinase (MAPK) pathway. PD-1/CTLA-4 inhibitors and inhibitors of MAPK such as BRAF/MEK inhibitors have significantly improved survival in both the metastatic and, more recently, adjuvant settings.

You are never too old for a congenital disease!

Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life.