Congenital Acinar Cystic Transformation of the Pancreas with Proximal Jejunal Atresia and Hepatic Iron Overload: An Autopsy Case

Mitra, Suvradeep; Kalra, Manisha; Purkait, Suvendu; Mishra, Purbasha; Mohanty, Pankaj Kumar; Som, Tapas Kumar; Adhya, Amit Kumar; Das, Prasenjit

doi:10.1080/15513815.2021.1966859

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…(II) Malformation etiopathogenesis: ACT may also be attributable to a malformation process in which the pancreatic tissue does not develop in a usual fashion in that region; instead, it forms cystic units that are at least partially lined by acinar cells. The description of ACT in pediatric age may be seen along this same line 35–37. In our series, 3 cases showed a patchy/multifocal distribution instead of forming a discrete mass.…”

Section: Discussionsupporting

confidence: 62%

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Acinar Cystic Transformation of the Pancreas

Luchini

Mattiolo

Baştürk

et al. 2023

American Journal of Surgical Pathology

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Acinar cystic transformation (ACT) of the pancreas, previously called acinar cell cystadenoma, is a poorly understood and rare entity among pancreatic cystic lesions. This study aims to clarify its real nature. This research cohort included 25 patients with pancreatic ACT, representing the largest series in the literature. We describe their clinicopathological features and molecular profile using next-generation sequencing. ACT arose more often in women (F/M≃2:1), in the body-tail region, with a mean size of ~4 cm. At the latest follow-up, all patients were alive and disease free. Histologically, a typical acinar epithelium lined all cysts, intermingled with ductal-like epithelium in 11/25 (44%) cases. All the cases lacked any evidence of malignancy. Three ACT showed peculiar features: 1 showed an extensive and diffuse microcystic pattern, and the other 2 harbored foci of low-grade pancreatic intraepithelial neoplasia (PanIN) in the ductal-like epithelium. Next-generation sequencing revealed the presence of 2 pathogenic/likely pathogenic mutations in 2 different cases, 1 with ductal-like epithelium and 1 with PanIN, and affecting KRAS (c.34G>C, p.G12R) and SMO (c.1685G>A, p.R562Q) genes, respectively. The other case with PanIN was not available for sequencing. Overall, our findings support that ACT is a benign entity, potentially arising from heterogeneous conditions/background, including: (1) acinar microcysts, (2) malformations, (3) obstructive/inflammatory setting, (4) genetic predisposition, (5) possible neoplastic origin. Although all indications are that ACT is benign, the potential occurrence of driver mutations suggests discussing a potential role of long-term surveillance for these patients.

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Section: Discussionsupporting

confidence: 62%

“…The description of ACT in pediatric age may be seen along this same line. [35][36][37] In our series, 3 cases showed a patchy/multifocal distribution instead of forming a discrete mass. This further supports the existence of a malformation hypothesis.…”

Section: Discussionmentioning

confidence: 44%

Acinar Cystic Transformation of the Pancreas

Luchini

Mattiolo

Baştürk

et al. 2023

American Journal of Surgical Pathology

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“…No data suggest a congenital nature of these lesions, and the calcifications seemed to seem with time as for the first patient. Nevertheless, one case of ACT has been reported in the autopsy of a 3-day-old male neonate in association with complete jejunal atresia and congenital liver hemochromatosis 6 . No mutation has been identified to explain this pancreatic phenotype associated with other digestive malformities and metabolic abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Pancreatic Acinar Cystic Transformation

Aguilera Munoz,

Boros,

Bonvalet

et al. 2023

Pancreas

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Pancreatic acinar cystic transformation (ACT) is a recently described entity of the pancreatic cysts' spectrum. It is a nonneoplastic pancreatic lesion, mostly asymptomatic, and is considered a rare disease, with less than 100 reported cases. Its benign nature and the absence of reported cases of malignant transformation or invasive lesions were a plea for a conservative approach. As a consequence, little is known about the pathogenesis of this lesion. No familial history of ACT has been previously described. Here, we report a familial case of 2 siblings with typical ACT imaging lesions giving evidence for familial aggregation. No obvious environmental exposure was identified as a potential risk factor for ACT development. No physiological data exist to suggest a congenital nature of these lesions, but for the first patient, the calcifications seem to have appeared with time. Further research, with high throughput sequencing technologies, may elucidate genetic polymorphisms explaining potential ACT familial phenotype. In practice, careful family history collection must be performed to identify a possible familial form of ACT when this diagnosis is proposed.

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Comprehensive characterisation of acinar cystic transformation of the pancreas: a systematic review

Mattiolo,

Wang,

Basturk

et al. 2023

J Clin Pathol

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AimsAcinar cystic transformation (ACT) of the pancreas is a rare pancreatic cystic lesion. Owing to its rarity, comprehensive histomolecular characterisation of this entity is still lacking. We aim to perform a systematic review on this controversial entity.MethodsWe searched PubMed, SCOPUS and Embase through May 2023 to identify all studies on ACTs. Clinicopathological, immunohistochemical (IHC) and molecular data have been extracted and analysed.ResultsOverall, there were 121 cases of ACTs in the literature. ACT had a female predominance (65.3% of patients), and a mean size of 4.8 cm. ACT was more often unifocal (71.9%) and multiloculate (61.2%). Histologically, the cysts were lined by an acinar epithelium, sometimes harbouring ductal-like areas (18.2%). In five cases (4.1%), an intralesional pancreatic intraepithelial neoplasia (PanIN) was reported. Preoperative diagnosis is challenging. After surgical resection, all patients were alive and disease free during follow-up except one patient who developed a second ACT after resection. By IHC, all lesions were positive for acinar markers; cytokeratin 7 and 8/18/19 were usually positive, and Ki-67 was invariably ≤3%. At the molecular level, three cases demonstrated genetic alterations: one showed multiple chromosomal gains, and other two harboured somatic mutations ofKRASandSMOgenes (one mutation per case).ConclusionsGlobally considered, our findings demonstrated that ACT is a benign entity, without the need of surgical resection with the exception of symptomatic lesions. The rare occurrence of intracystic PanINs and driver mutations suggest considering follow-up if a preoperative diagnosis of ACT can be made.

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Congenital Acinar Cystic Transformation of the Pancreas with Proximal Jejunal Atresia and Hepatic Iron Overload: An Autopsy Case

Cited by 3 publications

References 9 publications

Acinar Cystic Transformation of the Pancreas

Acinar Cystic Transformation of the Pancreas

Pancreatic Acinar Cystic Transformation

Comprehensive characterisation of acinar cystic transformation of the pancreas: a systematic review

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