Detecting Multiple Driver Mutations in a Patient with Essential Thrombocythemia.

BACKGROUND Three driver mutations have been identified in patients with essential thrombocythemia - JAK2 V617F, CALR, and MPL. Out of these, JAK2 V617F is mostly common. These mutations are thought to be mutually exclusive; therefore, the initial workup may not include the identification of all mutations separately. CASE REPORT We present a case of a 55-year-old woman who was referred to the hematology clinic for an elevated platelet count noted when she was hospitalized for a renal stone. The patient was asymptomatic. A workup was initiated for essential thrombocythemia, and she was tested for JAK2 V617F mutation using an allele-specific polymerase chain reaction (AS-PCR) test in peripheral blood, which came back positive. The variant allele frequency was 2%. She underwent a bone marrow biopsy, and next-generation sequencing (NGS) showed a CALR mutation. A 52 bp deletion-type mutation was detected in the CALR gene on exon 9, with a variant allele frequency of 7%. The NGS did not detect JAK2 mutation due to its low sensitivity. She was started on aspirin alone as she was less than 60 years old and had no history of thrombotic events. The patient has been following up with the hematology clinic for the last 2 years and has not had any thrombotic events. CONCLUSIONS We propose that in patients with a low JAK2 V617 allele variant, testing for other driver mutations should be performed. In our patient, JAK2 mutation could be clonal hematopoiesis of indeterminate potential; therefore, the dominant mutation (CALR) would determine the disease phenotype.

Multiple fibrotic lung nodules in a patient with primary Sjögren's syndrome.

Evaluation of bilateral lung nodules noted on imaging poses a diagnostic challenge to clinicians as it can have many differentials from benign to malignant causes. It becomes especially critical to identify them right when there are underlying autoimmune conditions and risk factors for infection. However, a thorough investigation can lead to the recognition of rare associations as described below. We present here a 57-year-old woman who was admitted to the hospital with shortness of breath. Imaging with a computed tomography (CT) scan showed that she had 8 bilateral cystic pulmonary nodules with focal areas of ground-glass opacity and mediastinal lymphadenopathy. Fibrobronchoscopy and histopathological studies were done on the right middle lobe lung nodule demonstrated that the lung nodule was fibrotic with reactive inflammation but showed no malignant cells. Upon further detailed history and chart review, it was noted that the patient had a history of dry eyes leading to an autoimmune workup showing positive antinuclear antibodies (ANA), anti-Ro, and anti-La antibodies with no follow-up since then. This lead to the suspicion that these nodules could be related to underlying Sjögren's syndrome. Initial inpatient management with intravenous steroids showed significant improvement in her symptomatology. Hence, we present this rare association of lung nodules with Sjögren's syndrome and its management for awareness of this condition.

Not Your Typical Adenocarcinoma: A Case of Mesonephric Adenocarcinoma of the Cervix With Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation.

Cervical cancer is one of the leading causes of cancer mortality in women. However, there have been great advances in its prevention and treatment. Nevertheless, there are certain rare forms of this cancer that are under-recognized, underreported, and have a paucity of evidence in terms of treatment. Mesonephric adenocarcinoma (AC) is one such rare disease, with less than 50 cases reported in the literature so far. We report a case of mesonephric AC of the cervix in a 73-year-old female who presented with abnormal vaginal bleeding. Our case is unique in that the patient had recurrence with lung metastases as well as fibroblast growth factor receptor 2 (FGFR2) mutation on genetic sequencing. She responded well to platinum-based chemotherapy and is currently on maintenance therapy with lenvatinib and bevacizumab. We aim to bring this patient's disease course and treatment options chosen to the attention of the medical community as this is only the second reported case of mesonephric AC with FGFR2 mutation, and probably the first one to be treated with tyrosine kinase inhibitors and immunotherapy with a favorable response.

A Rare Case of Streptococcus dysgalactiae Subsp. Dysgalactiae Human Zoonotic Infection.

Streptococcus dysgalactiae has two main subspecies: Streptococcus dysgalactiae subsp. equisimilus (SDSE) and Streptococcus dysgalactiae subsp. dysgalactiae (SDSD). The vast majority of human infections belonging to Streptococcus dysgalactiae have been associated with SDSE. There are only three cases of SDSD found in humans in literature. We present a case of SDSD cellulitis and bacteremia in a 49-year-old female patient from Houston, Texas with no major exposure to animals or trauma.