... in our understanding of the genetic changes that drive pancreatic neoplasia, the present classification system is remarkably similar to the classification presented in 2007 in the fourth edition of this Fascicle. It is rewarding that, rather than replacing the previous histologically based classification...

...Variants of adenocarcinoma are important to recognize because they can harbor unique genetic drivers, carry a significantly better or worse prognosis than conventional ductal adenocarcinoma, and have specific therapeutic sensitivities. For example, medullary carcinomas of the pancreas...

... of pancreatoduodenectomies (“Whipple procedures”) are performed every year, and our knowledge of the pathology of pancreatic cancer continues to grow ( 4 ). It is now clear that pancreatic cancer is fundamentally a genetic disease, and that some infiltrating adenocarcinomas of the pancreas arise from histologically well...

... is characterized by somatic gigantism, omphalocele, organomegaly including macroglossia, hemihypertrophy, adrenal cytomegaly, and an increased risk of embryonal neoplasms including Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma ( 30 ). BWS is caused by an assortment of epigenetic and genetic...

... Health Organization (WHO) classification ( 1 – 3 ). However, recent genetic analyses have made it clear that IOPNs are not only morphologically distinctive, they also have a unique genetic profile, and are now separated from IPMNs, here and in the 2019 WHO classification ( 3 , 8 ). Recently...

... younger patients (under 35 years) tend to have an inherited genetic etiology ( 3 , 5 ). Chronic pancreatitis has various etiologies. As stated, most cases in the Western world are associated with long-term alcohol abuse, and usually also cigarette smoking ( 3 , 5 ). Less common causes are related...

... carcinoma over a period of years. There is no racial predominance and no association with cigarette smoking or with any genetic syndromes. MCNs may occur in pregnancy, but it is not clear if this is because of overlapping age and gender demographics, or if pregnancy promotes the growth of these neoplasms...

... races ( 33 , 34 ). Rare acinar cell carcinomas have been reported in patients with hereditary cancer predisposition syndromes; these associations point to more common genetic underpinnings in sporadic cases (see below). Several cases have occurred in patients with Lynch syndrome, with germline mutations...

... differentiated. Although these neoplasms share neuroendocrine differentiation and may overlap histologically, recent data demonstrate that they are distinct at the genetic level, and have vastly different clinical characteristics and treatments. The generic designation of neuroendocrine neoplasm may be used...

... and molecular testing, these tests have demonstrated added value. CEA is generally low in serous cystadenomas. Molecular Genetic Findings. Serous cystadenomas are strongly associated with the VHL syndrome, and patients with VHL have a germline mutation in the VHL gene coupled with a second...

... domain ( 33 ). Acinar Cells Determination of acinar cells in the tip domain is specified by PTF1A expression, loss of NKX6.1, and absent Notch signaling ( 40 ). Support that PTF1A is a key regulator of acinar cells is that genetically engineered mice lacking PTF1A have no acinar cells, and pancreatic...

... in Asians and African Americans ( 12 , 28 ). Associations with genetic syndromes and other conditions have not been well characterized. A few cases arose in patients with familial adenomatous polyposis (FAP) ( 29 – 31 ), which is of interest because the predominant genomic alterations are in the WNT pathway...

.... For nearly 20 years, IMTs have been regarded as true neoplasms, and the current understanding of the genetic landscape of IMT suggests approximately 50 percent of IMTs have anaplastic lymphoma kinase (ALK) gene rearrangements with a variety of partner genes. ALK-negative IMTs harbor other...

... . 46. Lubensky   IA , Pack   S , Ault   D , et al   Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysis . Am J Pathol   1998 ; 153 : 223 - 31 . 47. Rao   AC , Monappa   V , Shetty   P...

... uterus  1. With rudimentary cavity  2. Without rudimentary cavity U6: Unclassified cases a Adapted from reference 2 . The mesonephric (wolffian) duct connects the mesonephros (primitive kidney) to the cloaca. In genetic females, the absence of male gonads results from lack of anti...

...   Differentiated vulvar intraepithelial neoplasia contains Tp53 mutations and is genetically linked to vulvar squamous cell carcinoma . Mod Pathol   2010 ; 23 : 404 - 12 . 53. Tessier-Cloutier   B , Kortekaas   KE , Thompson   E , et al   Major p53 immunohistochemical patterns in in situ...

... intraepithelial lesions are genetically distinct from keratinizing squamous cell carcinomas and contain mutations in PIK3CA . Mod Pathol   2017 ; 30 : 448 - 58 . 57. Han   T , Jin   Y , Li   Y , Bi   Y , Pan   L . Clinicopathologic features and outcomes of primary vaginal adenosis...

..., and it is still unclear whether such precursors can be (or should be) separated from HPV-associated ones. Occasional cases of cervical squamous cell carcinoma have evidence of TP53 mutations, suggesting that host genetic factors prompt the development of cervical malignancy ( fig. 3-30 ). HPV-INDEPENDENT...

... expression is useful in the distinction of epithelioid trophoblastic and placental site trophoblastic tumors by profiling trophoblastic subpopulations . Am J Surg Pathol   2004 ; 28 : 1177 - 83 . 31. Chau   NG , Ma   C , Danga   K , et al   An anatomical site and genetic-based prognostic...

...Table 2-1 HEREDITARY SYNDROMIC AND NONSYNDROMIC (ISOLATED) HYPERPARATHYROIDISM Disorder Genetics Other Manifestations Multiple endocrine neoplasia type 1 MEN1 germline mutation, chromosome 11q13 has 10 exons, and encodes menin, a 610-amino acid protein Autosomal dominant...