Solid Pseudopapillary Tumor of the Pancreas in a 25-Year-Old Female: A Rare Entity of Pancreatic Tumors.

Solid pseudopapillary neoplasms (SPMs) of the pancreas are extremely rare tumors of the pancreas that typically affect young women and have a favorable prognosis. Herein, we report a 25-year-old female with solid pseudopapillary tumor of the pancreas who presented with atypical epigastric pain. The patient underwent pancreatoduodenectomy (Whipple procedure). She remained asymptomatic and showed no signs of disease after one year of follow-up. This type of pancreatic tumors is amenable to cure after complete surgical resection, even in cases with capsular invasion, unlike any other malignant tumors of the pancreas.

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.

The T cell receptor (TCR) signaling pathway is an ensemble of numerous proteins that are crucial for an adequate immune response. Disruption of any protein involved in this pathway leads to severe immunodeficiency and unfavorable clinical outcomes. Here, we describe an infant with severe immunodeficiency who was found to have novel biallelic mutations in SLP76. SLP76 is a key protein involved in TCR signaling and in other hematopoietic pathways. Previous studies of this protein were performed using Jurkat-derived human leukemic T cell lines and SLP76-deficient mice. Our current study links this gene, for the first time, to a human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. Hereby, we characterized aspects of the patient's immune phenotype, modeled them with an SLP76-deficient Jurkat-derived T cell line, and rescued some consequences using ectopic expression of wild-type SLP76. Understanding human diseases due to SLP76 deficiency is helpful in explaining the mixed T cell and neutrophil defects, providing a guide for exploring human SLP76 biology.

Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.

Fabry disease, an X-linked recessive lysosomal disease, results from mutations in the GLA gene encoding lysosomal α-galactosidase A (α-Gal A). Due to these mutations, there is accumulation of globotriaosylceramide (GL-3) in plasma and in a wide range of cells throughout the body. Like other lysosomal enzymes, α-Gal A is synthesized on endoplasmic reticulum (ER) bound polyribosomes, and upon entry into the ER it undergoes glycosylation and folding. It was previously suggested that α-Gal A variants are recognized as misfolded in the ER and undergo ER-associated degradation (ERAD). In the present study, we used Drosophila melanogaster to model misfolding of α-Gal A mutants. We did so by creating transgenic flies expressing mutant α-Gal A variants and assessing development of ER stress, activation of the ER stress response and their relief with a known α-Gal A chaperone, migalastat. Our results showed that the A156V and the A285D α-Gal A mutants underwent ER retention, which led to activation of unfolded protein response (UPR) and ERAD. UPR could be alleviated by migalastat. When expressed in the fly's dopaminergic cells, misfolding of α-Gal A and UPR activation led to death of these cells and to a shorter life span, which could be improved, in a mutation-dependent manner, by migalastat.

Management of malignant and borderline phyllodes tumors of the breast: our experience.

PURPOSE: Phyllodes breast tumors (PT) range from benign lesions to malignant ones that may give distant metastasis. Preoperative diagnosis is difficult, while the treatment of borderline and malignant disease remains controversial. METHODS: Eighteen patients in 3 clinics were included in the study. Lumpectomy with large margins was performed in 15 patients, while mastectomy was performed in 3 patients. Lymph node excision was carried out in 3 patients with malignant tumors. Radiation therapy (RT) was delivered after a second lumpectomy in cases of local recurrence. Chemotherapy was used only in 2 patients with aggressive recurrent tumors. RESULTS: Borderline behavior was reported in 4 patients. Lumpectomy was performed in these cases, with local recurrence in 2 of them. Malignant behavior was reported in 14 patients. Lumpectomy was performed in 10 patients and mastectomy in 3. Local recurrence was reported in 5 cases and in 2 patients recurrence after a 2nd operation was also reported. CONCLUSIONS: Borderline PT were treated conservatively and the prognosis was excellent, while malignant subtypes needed mastectomy in about 25% of the cases, The local recurrence rate was high, but the disease free survival (DFS) and the overall survival (OS) were also very high (94%).

Peritoneal Keratin Granulomatosis Associated with Endometrioid Adenocarcinoma of the Uterine Corpus in a Woman with Polycystic Ovaries: A Potential Pitfall-A Case Report and Review of the Literature.

Peritoneal keratin granulomatosis is a rare condition included under granulomatous lesions of the peritoneum. It can be secondary to neoplasms of the female genital tract and can mimic carcinomatosis intraoperatively. A case of a 40-year-old woman with a history of polycystic ovaries and a chief complaint of vaginal bleeding is presented. She was diagnosed with endometrioid adenocarcinoma with squamous differentiation in endometrial curettings. Intraoperatively, many peritoneal nodules were found, interpreted as peritoneal carcinomatosis. The woman underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy, omentectomy, bilateral pelvic lymphadenectomy, and appendicectomy. Multiple biopsies were taken, as well as peritoneal washings. Microscopic examination revealed multiple keratin granulomas on the serosal surface of the ovaries, fallopian tubes, appendix, and omentum. Lymph node metastasis was not found. Peritoneal keratin granulomas (PKGs) have been reported in cases of endometrioid adenocarcinoma with squamous differentiation of the uterine corpus, ovary, and atypical adenomyoma. It should be noted that the prognosis of cases of peritoneal keratin granulomas without viable tumor cells is favourable and that the histologic examination is essential for its diagnosis. We report a case of PKG in a patient with endometrial carcinoma with squamous differentiation, being the first in a woman with polycystic ovaries.

Malignant Myoepithelioma of the Breast Clinically and Histologically Masquerading as Angiosarcoma: Cytological Findings and Review of the Literature.

BACKGROUND: Malignant myoepithelioma of the breast is an exceptionally rare, aggressive tumor with a diverse morphology, the cytological features of which have only occasionally been described. CASE REPORT: Our case comprises a 74-year-old woman who was admitted to our hospital with an erythematous, inflammatory-like mass of her left breast with nipple ulceration, and clinically fixed to the chest wall. The woman underwent fine-needle aspiration and biopsy. The aspirates consisted mainly of loose aggregates of large, highly pleomorphic, polygonal epithelioid cells as well as aggregates of spindle cells with prominent, easily detectable mitoses and single, multinucleated pleomorphic giant cells. The cytological diagnosis was consistent with high-grade malignancy. Histologically, the lesion consisted broadly of eosinophilic epithelioid cells with globoid cytoplasm in a reticulated, angiomatoid pattern and of spindle (sarcomatoid) cells in a storiform pattern, highly suspicious of angiosarcoma. A final diagnosis of malignant myoepithelioma was made. CONCLUSION: We present the cytological findings in comparison with the unusual histological features of a malignant myoepithelioma of the breast. A high degree of suspicion with a keen eye for morphological details coupled with relevant immunohistochemistry will aid in arriving at the correct diagnosis.

Malignant myoepithelioma of the breast: A case report and review of the literature.

Malignant myoepithelioma of the breast is an extremely rare tumor composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. Only a limited number of case reports have been descibed to date; therefore the biological behavior and treatment outcomes of this rare tumor have not been clearly determined. Herein, we present a case of a 74-year-old woman who was admitted with inflammatory-like cancer of the breast, presenting with invasion of the chest wall and axillary lymph node metastasis at the time of diagnosis. The histological examination revealed a tumor composed of epithelioid and spindle cells with moderate to marked nuclear atypia, with foci of hemorrhage and necrosis. The tumor cells were immunoreactive for vimentin, p63, p53, CD10, cytokeratin (CK)8/18, CKAE1-3 and S-100. Finally, a diagnosis of myoepithelial carcinoma of the breast was established. Neoadjuvant chemotherapy was first administered and proved to be ineffective. Due to locoregional progression that was associated with the development of an abscess and subsequent excessive bleeding, a palliative mastectomy was performed. Postoperatively, one more cycle of systemic chemotherapy was administered. However, the patient experienced an early relapse to the chest wall and succumbed to septic shock due to persistent local infection. The aggressiveness and chemoresistance of the tumor in this case was consistent with the existing bibliography.

Primary thyroid lymphoma: The two ends of the spectrum.

We describe two different cases of prinary thyroid lymphoma (PTL). PTL is a rare malignancy. Nevertheless, it frequently presents diagnostic and therapeutic challenges. The first patient, a 79-year-old female, presented with a large, painless thyroid mass accompanied by severe obstructive symptoms of the upper respiratory and gastrointestinal track. The second patient (67-year-old female) presented with nodular goiter. Thyroidectomy - performed on the first patient for alleviation of obstructive symptoms - revealed the presence of a diffuse large B-cell lymphoma. Although she was administered standard chemotherapy she deceased four months later. In the second patient, primary thyroid lymphoma was an incidental finding following thyroidectomy performed for nodular goiter. These two cases illustrate the variable course of PTL, the possibility of which should be kept into consideration in clinical practice.