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Animals : An Open Access Journal From... Apr 2024Ovarian tumors in mares are uncommon in comparison to other neoplasms and are classified into three categories: gonadal stromal tumors, coelomic epithelium surface...
Ovarian tumors in mares are uncommon in comparison to other neoplasms and are classified into three categories: gonadal stromal tumors, coelomic epithelium surface tumors, and germinal cell tumors. Some ovarian neoplasms histologically show a mixture of multiple cell types in the same tumor, such as fibrothecoma; therefore, the differentiation between fibroma and thecoma is often difficult. According to the World Health Organization, fibrothecomas are classified as sex-cord stromal tumors (pure stromal tumors). Neoplasms such as fibrothecoma present with limited morphological, clinical, ultrasonographic, and endocrine profile characteristics. To diagnose this type of tumor, a broad clinical examination is needed, but histopathology remains the most accurate. Herein, we report a case of incidentally found ovarian fibrothecoma during a diagnostic laparotomy in a 6-year-old Dutch Warmblood (KWPN) mare who presented to the clinic with colic symptoms. After a unilateral ovariectomy, the altered right ovary was diagnosed as fibrothecoma based on histopathological features.
PubMed: 38731310
DOI: 10.3390/ani14091307 -
JCO Oncology Practice May 2024In the age of telehealth medicine, an individual's facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition... (Review)
Review
In the age of telehealth medicine, an individual's facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition syndrome. These syndromes include -associated polyposis, Birt-Hogg-Dubé syndrome, cutaneous syndrome, hereditary leiomyomatosis and renal cell cancer, multiple endocrine neoplasia, neurofibromatosis type 1, Peutz-Jeghers syndrome, hamartoma tumor syndrome, and tuberous sclerosis complex 1 and 2, among others. Correctly identifying characteristic features is important for genetic and nongenetic specialists as early detection can enable prompt intervention, improving patient outcomes. Advancements in the availability of genetic testing allow patients and their relatives to have more information about their genetic risk profile than before. These changes in clinical pathways, combined with improvements in screening and risk-reducing treatment, highlight the need to outline the cutaneous and morphologic features of high-risk cancer syndromes for clinicians. In this review, we describe the important facial features of hereditary cancer predisposition, with emphasis on diagnosis, cutaneous and extracutaneous manifestations, and screening.
PubMed: 38713892
DOI: 10.1200/OP.23.00610 -
JCO Precision Oncology May 2024Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline mutation. Patients harboring de novo mutations are usually diagnosed at more advanced...
PURPOSE
Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline mutation. Patients harboring de novo mutations are usually diagnosed at more advanced disease stages. We present a young woman with Met918Th mutation diagnosed with stage IV MTC at age 10 years.
METHODS
The disease progressed despite total thyroidectomy and multiple surgical interventions for cervical lymph node recurrences, leading to distant metastases in the fifth year after the initial diagnosis. Subsequently, she underwent five different types of tyrosine kinase inhibitor (TKI) treatments. The 17-year disease course was divided into periods defined by four surgical interventions and sequential treatment intervals with four multikinase (sunitinib, vandetanib, cabozantinib, and lenvatinib) and one RET-selective TKI (selpercatinib). Tumor growth for different phases of spontaneous development and drug treatment intervals was characterized by changes in serial log-transformed calcitonin measurements (n = 114).
RESULTS
Three operations (one for calcitonin-producing adrenal pheochromocytoma) were associated with drops in calcitonin levels. All of the nonselective TKIs were stopped due to adverse effects. As reflected by the negative calcitonin doubling rate, the best treatment response was observed with selpercatinib, which was associated with an initial large drop followed by a decreasing calcitonin trajectory over 514 days without any major side effects.
CONCLUSION
This case of MEN2B medullary thyroid cancer with long-term survival presents how the effectiveness of different treatment modalities can be estimated using log-transformed calcitonin levels. Furthermore, our experience supports the view that serial calcitonin measurements may be more sensitive than radiological follow-up in advanced MTC. Our patient also represents a new case of rarely reported calcitonin-producing pheochromocytomas.
Topics: Humans; Calcitonin; Thyroid Neoplasms; Female; Multiple Endocrine Neoplasia Type 2b; Carcinoma, Neuroendocrine; Proto-Oncogene Proteins c-ret; Protein Kinase Inhibitors
PubMed: 38709988
DOI: 10.1200/PO.23.00675 -
Contemporary Clinical Dentistry 2024Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid...
Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid habitus, and mucocutaneous neuromas. Multiple mucosal neuromas on the tongue, lips, cheeks, and inner eyelids are often appeared as the earliest signs in most of the undiagnosed cases. Early diagnoses, recognition of phenotype, adequate surgery, and appropriate genetic counseling are very much essential as patients often develop medullary thyroid carcinoma (MTC) and pheochromocytoma. This case report would highlight the oral manifestations of MEN 2B in a 22-year-old female patient with multiple mucosal neuromas and a previous history of thyroidectomy due to MTC.
PubMed: 38707667
DOI: 10.4103/ccd.ccd_215_23 -
Annals of Medicine and Surgery (2012) May 2024Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare autosomal dominant neoplastic syndrome resulting from RET gene mutations, marked by medullary thyroid carcinoma...
INTRODUCTION AND IMPORTANCE
Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare autosomal dominant neoplastic syndrome resulting from RET gene mutations, marked by medullary thyroid carcinoma (MTC) and increased risk of other endocrine tumors. MEN2 includes subtypes MEN2A, MEN2B, and familial MTC. Prophylactic thyroidectomy is recommended for MEN2A due to high MTC risk.
CASE PRESENTATION
A 38-year-old woman with a family history of thyroid cancer presented with headaches, sweating, and palpable breast mass. Exam revealed skin lesions. Lab abnormalities and imaging indicated a large adrenal mass and thyroid nodules. Inconclusive biopsies led to left adrenalectomy, confirming pheochromocytoma. Subsequent total thyroidectomy revealed MTC.
CLINICAL DISCUSSION
This case represents rare MEN2B presentation, featuring MTC, pheochromocytoma, mucosal neuromas, and marfanoid habitus. Genetic testing for RET mutations is crucial with a positive family history. MEN2A individuals undergo prophylactic thyroidectomy due to high MTC risk. Although rare, pheochromocytoma can be an initial MEN2 manifestation, indicated by paroxysmal symptoms. Surgical resection is the treatment.
CONCLUSIONS
The patient's successful adrenalectomy followed by total thyroidectomy confirmed MTC. Thorough evaluation, including inconclusive initial findings, emphasizes imaging, and biopsies. Early detection and appropriate management optimize MEN2 outcomes.
PubMed: 38694328
DOI: 10.1097/MS9.0000000000001867 -
Cancer Science Apr 2024Multiple Endocrine Neoplasia 1 gene (MEN1), which is known to be a tumor suppressor gene in lung tissues, encodes a 610 amino acid protein menin. Previous research has...
Multiple Endocrine Neoplasia 1 gene (MEN1), which is known to be a tumor suppressor gene in lung tissues, encodes a 610 amino acid protein menin. Previous research has proven that MEN1 deficiency promotes the malignant progression of lung cancer. However, the biological role of this gene in the immune microenvironment of lung cancer remains unclear. In this study, we found that programmed cell death-ligand 1 (PD-L1) is upregulated in lung-specific Kras mutation-induced lung adenocarcinoma in mice, after Men1 deficiency. Simultaneously, CD8 and CD3 T cells are depleted, and their cytotoxic effects are suppressed. In vitro, PD-L1 is inhibited by the overexpression of menin. Mechanistically, we found that MEN1 inactivation promotes the deubiquitinating activity of COP9 signalosome subunit 5 (CSN5) and subsequently increases the level of PD-L1.
PubMed: 38685894
DOI: 10.1111/cas.16196 -
Medicina 2024Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We...
Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.
Topics: Female; Humans; Age of Onset; Exome Sequencing; Inflammatory Bowel Diseases; Multiple Endocrine Neoplasia Type 2a; Mutation; Proto-Oncogene Mas; Proto-Oncogene Proteins c-ret; Infant
PubMed: 38683522
DOI: No ID Found -
The Journal of Clinical Endocrinology... Apr 2024Activating RET alterations have been reported in a variety of solid tumors, including pheochromocytoma where they occur both sporadically and as part of familial...
INTRODUCTION
Activating RET alterations have been reported in a variety of solid tumors, including pheochromocytoma where they occur both sporadically and as part of familial multiple endocrine neoplasia type 2 (MEN2) syndromes. Selpercatinib is a first-in-class, highly selective, and potent small molecule RET kinase inhibitor that has demonstrated marked and durable anti-tumor activity in diverse RET-activated solid tumors in the LIBRETTO-001 study (NCT03157128).
METHODS
We describe the first six pheochromocytoma cases treated with selpercatinib in the LIBRETTO-001 study.
RESULTS
Of the six patients (one sporadic and five reported as part of MEN2 syndromes) in this case report, four had a partial response/complete response and two had stable disease per independent review committee. Treatment duration ranged from 9.2 months to more than 56.4 months. The safety profile of treatment was consistent with selpercatinib in other indications.
CONCLUSION
These data support selpercatinib as an effective therapy against RET-mutant pheochromocytoma, adding to the diversity of RET-activated tumor types that may benefit from targeted RET inhibition.
PubMed: 38661071
DOI: 10.1210/clinem/dgae283