Cystic Hypersecretory Carcinoma Research Articles

Atypical cystic hypersecretory lesions of the breast commonly harbour TP53 alterations.

Cystic hypersecretory lesions are rare and include atypical cystic hypersecretory hyperplasia (A-CHH) and cystic hypersecretory carcinoma in situ (CHC-IS). Despite detailed morphological descriptions, little is known about the genetic landscape of these lesions. We identified four A-CHH and three CHC-IS from 2010 to 2022. Patients ranged from 39 to 65 (median 49) years. All lesions showed characteristic cystically dilated ducts with colloid-like secretions lined by enlarged cells with hyperchromatic nuclei and at least moderate cytological atypia. CHC-IS was remarkable for a greater degree of intraductal proliferation, typically with a micropapillary pattern. Four patients had concurrent ipsilateral invasive carcinoma. Next-generation sequencing (104 cancer-associated genes) was successful in four, showing variants in TP53 (3), KEAP1 (1) and MDM2 (1). p53 immunohistochemistry was concordant with molecular results with mutant-pattern staining in three TP53-mutants and wild-type in one. In three cases where sequencing failed, one showed mutant p53 staining, one was wild-type and one had no remaining lesion. The combined molecular and immunohistochemical results demonstrated p53 alterations in one A-CHH and three CHC-IS. Based on this limited cohort, atypical cystic hypersecretory lesions appear to commonly harbour TP53 alterations. To our knowledge, this is the first study to characterise molecular alterations in this rare subset of breast lesions.

Cystic Hypersecretory Carcinoma of the Breast: A Rare Case Report with Review of Literature and Emphasis on Differential Diagnosis.

Karthik DhandapanCystic hypersecretory carcinoma (CHC) is a rare subset of in-situ breast carcinoma with or without associated invasive carcinoma. It is part of a spectrum of cystic hypersecretory lesions that includes cystic hypersecretory hyperplasia (CHH), CHH with atypia, CHC in situ, and CHC with invasion. Only 20 cases of CHC with invasion have been reported so far. A 60-year-old female presented with a palpable right breast mass. A core needle biopsy was carried out, which was reported as invasive breast carcinoma with areas of ductal carcinoma in situ (DCIS). Modified radical mastectomy was done post-neo-adjuvant chemotherapy; On microscopy, dilated cystic spaces filled with eosinophilic secretions (thyroid colloid-like), lining neoplastic cells with variable degrees of proliferation and atypia were seen. There were multiple foci of invasion; both skin invasion and axillary lymph node metastasis were present. Immunohistochemistry (IHC) was done with relevant markers; correlating all these findings, a diagnosis of CHC with invasion was made. CHC is a distinct form of DCIS with or without associated invasion. Awareness of this entity is required to rule out other differential diagnoses and to avoid misinterpretation. Little is known about the IHC profile, biological behavior, prognosis, and molecular profile of CHC due to its rarity.

A rare case of invasive cystic hypersecretory carcinoma of the breast post neoadjuvant therapy: Case report and literature review

Abstract Invasive cystic hypersecretory carcinoma (invasive CHC) of the breast is extremely rare and underdiagnosed type of breast cancer that is not included in the WHO classification of breast tumors. It has distinct gross and

Invasive cystic hypersecretory carcinoma of the breast: a rare variant of breast cancer: a case report and review of the literature

BackgroundCystic hypersecretory carcinoma is a rare subtype of breast cancer. It is a member of cystic hypersecretory lesions, which include a series of pathological disease lineages: cystic hypersecretory hyperplasia (CHH), CHH with atypia, cystic hypersecretory carcinoma (CHC) and invasive CHC. It was found that most cystic hypersecretion lesions were in situ carcinoma, and only 19 cases of invasive cystic hypersecretion carcinoma were reported.Case presentationWe are reporting a case of a 63-year-old female who had a lump in her left breast for 3 years. A modified radical mastectomy was done and morphological diagnosis of invasive CHC with axillary node metastasis was made.ConclusionsOwing to a smaller number of reported cases, little is known about the biological behavior, prognosis and molecular study of cystic hypersecretion lesions. Therefore, more cases with follow-up data are needed to reveal the biological behavior of this rare tumor.

Invasive Cystic Hypersecretory Carcinoma of Breast: A Case Report

Invasive Cystic Hypersecretory Carcinoma of Breast: A Case Report

乳腺 cystic hypersecretory carcinoma の 1 例

乳腺 cystic hypersecretory carcinoma の 1 例

Clinicopathologic features of cystic hypersecretory lesion of the breast

To study the clinicopathologic features, immunophenotype and differential diagnosis of cystic hypersecretory lesion (CHL) of the breast. Clinicopathologic and follow-up data of six cases of breast CHL in 2010-2013 were collected and reviewed.Immunohistochemical and mucinous staining was performed. All six patients were female, age ranged from 37 to 71 years (average 49.3 years). Three cases were cystic hypersecretory hyperplasia (CHH), the other three cases were cystic hypersecretory carcinoma (CHC). Clinically the lesions presented as either breast mass or mammographic calcification.Grossly, the cystic hypersecretory lesions were poorly circumscribed, with multiple colloid containing cysts on the cut surface. Microscopically, the remarkable feature was numerous enlarged cysts which contained densely eosinophilic homogeneous secretion similar to the colloid seen in thyroid follicles, and calcification was seen in the cyst in one case. The secretion was D-PAS and mucicarmine positive. The lining epithelium of the cysts was uniformly flat, cuboid or columnar, and arranged in a monolayer. The cells may be arranged in turfs, solid or micropapillary patterns in CHH.In cases with dysplasia, the epithelium showed cytological and structural atypia, but the usual morphology of atypical dutal hyperplasia such as arcades, rigid bridges or cribriform pattern was less common. The three CHC included two invasive ductal carcinomas (IDC) and one ductal carcinoma in situ (DCIS).In CHL, there was immunoreactivity to S-100 protein, CK5/6 and CK14.Of the three CHCs, ER and PR were expressed in only one IDC.No HER2 expression was identified in the two invasive CHCs.One patient was lost to follow-up, and the rest were uneventful at 18 months. CHL of the breast is a rare pathological entity. Multiple colloid-filled cysts is a unique histological feature. The epithelium of CHL may show usual hyperplasia, dysplasia or carcinoma.

Cystic Hypersecretory (In Situ) Carcinoma of the Breast

Cystic hypersecretory carcinoma (CHC) is an uncommon variant of ductal carcinoma in situ characterized by, among other features, the presence of luminal secretion resembling thyroidal colloid. CHC is thought to behave in an indolent manner but has the potential to give rise to invasive carcinoma, which is often poorly differentiated. We studied the immunohistochemical, clinical, and morphologic features of 10 cases of CHC. All patients were women averaging 62.8 years in age (range, 47 to 79 y). The clinical/radiographic presentation was a mass (5/10), calcifications (3/10), bloody nipple discharge (1/10), and unknown (1/10). Microscopic size of CHC ranged from 0.2 to 2.7 cm (mean, 0.9 cm). Micropapillary growth was present in all cases. Nuclear grade was intermediate (5/10) or high (5/10). One case also showed microinvasive carcinoma. All cases arose in a background of cystic hypersecretory hyperplasia (CHH) and/or CHH with atypia. CHC was ER in 8/10 cases (ER+/PR+, 4/10; ER+/PR+, 4/10). Two cases were ER-/PR-, including the case with microinvasive carcinoma. All were HER2-. Androgen receptor was expressed in 3/10 (30%) cases. Myoepithelial stains p63, smooth muscle myosin, and CK5 showed circumferential staining in 9/10 (90%) cases, whereas 1 case was negative for p63, smooth muscle myosin, and CK5 in both CHC and adjacent CHH. Basal-like carcinoma markers EGFR, CK14, and CK5 were negative in all cases, with the exception of 1 case that was positive for EGFR. Four patients with follow-up information showed no evidence of disease (mean, 5.5 y). CHC is a distinct variant of ductal carcinoma in situ that arises in a background of CHH and is characterized by micropapillary growth, intermediate-grade to high-grade nuclei, and luminal colloid-like secretion. CHC is usually ER and HER2-. Negative or discontinuous reactivity with myoepithelial markers may be seen, despite its in situ nature. CHC usually behaves in a nonaggressive manner as was seen in our patients who were all free from disease at last follow-up.

Secretory carcinoma of the breast and its histopathological mimics: value of markers for differential diagnosis

Secretory carcinoma (SC) is a rare histological type of breast cancer, and ETV6-NTRK3 gene fusion is highly specific to it. The differential diagnoses of SC include acinic cell carcinoma (ACCA) and cystic hypersecretory carcinoma (CHC), as well as invasive ductal carcinoma (IDC). For patients with these rare but distinctive histological subtypes, SC and its histopathological mimics should be differentiated from each other. However, differential markers have not yet been assessed systematically, and we aimed to identify and evaluate novel and existing markers. We reviewed 19 cases diagnosed initially as SC using integrated diagnostic techniques, including morphology, immunohistochemistry and molecular pathology, and validated promising markers in 445 breast cancers. We reclassified 19 formerly diagnosed 'SCs' into nine SCs, three ACCAs, three CHCs, three IDCs and one microglandular adenosis. We confirmed that ETV6-NTRK3 gene rearrangement and amylase positivity are good diagnostic markers for SC and ACCA, respectively. Vacuolar staining for adipophilin, positivity for α-lactalbumin and negativity for ETV6 rearrangement are diagnostic markers for CHC. In this study, we propose a panel of four markers (ETV6 rearrangement, amylase, α-lactalbumin and adipophilin) for distinguishing SC, ACCA, CHC and IDC. This simple but robust panel will serve pathologists well as a practical guide for reaching an appropriate diagnosis.

画像上多発嚢胞性乳管拡張像を呈した乳腺cystic hypersecretory carcinomaの1例

画像上多発嚢胞性乳管拡張像を呈した乳腺cystic hypersecretory carcinomaの1例

Cystic hypersecretory carcinoma with microinvasive carcinoma and cystic hypersecretory hyperplasia of breast: report of a case

患者女,44岁.发现左侧乳腺肿物,行肿物切除术,原单位冷冻切片病理报告导管原位癌伴浸润,遂行乳腺改良根治术.于2009年4月7日来本院会诊.具体病史不详.病理检查:镜下观察:肿瘤主要由含有大量均质嗜酸性分泌物的大小不等扩张的腺腔构成,形态酷似甲状腺滤泡.病变广泛,部分腺腔被覆单层扁平上皮,形态温和。

Cystic Hypersecretory Carcinoma of the Breast: Sonographic Features with a Histological Correlation

Purpose: To evaluate imaging findings of cystic hypersecretory carcinoma (CHC) of the breast, with an emphasis of the sonographic (US) features, and to correlate the US findings with the histology. Materials and Methods: During the last 13 years, six women with a mean age of 43 years were histologically confirmed with CHC of the breast. We retrospectively reviewed the clinical records, US images, and correlated them with histological findings. Results: US showed a large complex cystic mass lined by a thin wall (n = 2), multiple small cysts in focally heterogeneous background parenchyma without predominant mass (n = 3), and an irregular mass with an ill-defined margin and ductectasia (n = 1). The pathology revealed that the thin walls of the cysts were all cystic hypersecretory intraductal carcinomas, while the solid portions of the lesions varied from benign intraductal papillomas to minimal infiltrating ductal carcinoma in the background of the cystic hypersecretory intraductal carcinomas. Conclusion: The characteristic US findings of cystic hypersecretory carcinoma are either a large complex cystic and solid mass or multiple small cysts in the background of a focally heterogeneous parenchyma.

0224 Cystic hypersecretory carcinoma of the breast

0224 Cystic hypersecretory carcinoma of the breast

Cystic Hypersecretory Carcinoma of the Breast With Paget Disease of the Nipple: A Diagnostic Challenge

A unique case of cystic hypersecretory carcinoma in a 48-year-old woman who presented with a tender, palpable abnormality of the lower outer quadrant of her left breast in 2002 is described. Mammographic and ultrasound examinations showed heterogeneous, dense breast tissue with a focal asymmetric density and an ill-defined heterogenous hypoechoic area with anechoic spaces, respectively, that corresponded to the area of palpable abnormality. Although the imaging findings did not change significantly over 4 years, the patient complained of intermittent, spontaneous serous discharge from the left nipple and persistent induration and tenderness in the same area of the left breast. An ultrasound-guided core-needle biopsy of the lesion was performed at the last visit to rule out a malignant process. A left simple mastectomy showed a large multicystic lesion occupying most of the lower quadrants by a cystic hypersecretory carcinoma and Paget disease of the nipple.

Cystic hypersecretory carcinoma: rare and poorly recognized variant of intraductal carcinoma of the breast. Report of five cases

To report five cases of a rare variant of intraductal carcinoma of the breast, so-called cystic hypersecretory carcinoma. The clinical and pathological characteristics of the lesion are described, along with a review of the literature. The patients were females aged between 53 and 78 years (average 66.8 years). The size of the lesions ranged between 70 and 80 mm in largest dimension. In two cases, the development of high-grade invasive ductal carcinoma was observed; in one additional case there was recurrence of high-grade in-situ carcinoma after 3 years. This emphasizes the importance of correct diagnosis of this potentially aggressive lesion. Strong over-expression of HER-2/neu protein was observed in three cases, including the two with an invasive component. Protein p53 was variably positive in all cases. Steroid receptor immunohistochemistry yielded variable results with only one case being positive for both oestrogen and progesterone receptors. Interestingly, in most cases (4/5) staining for androgen receptors was observed. Cystic hypersecretory ductal carcinoma of the breast is a rare distinctive variant of ductal carcinoma in situ. It has the potential for invasive growth and the development of metastases.

Cystic Hypersecretory Duct Carcinoma of the Breast.

We present two cases of a rare form of intraductal carcinoma of the breast, "cystic hypersecretory carcinoma of the breast." The clinical and pathologic characteristics of the lesion are discussed, along with a review of the literature.

Invasive Cystic Hypersecretory Ductal Carcinoma of Breast

Abstract Few individual cases of invasive cystic hypersecretory ductal carcinoma of the breast have been described. Review of 33 cases of cystic hypersecretory carcinoma, including the current case, indicate that only 6 cases presented with invasive disease. Two of these cases had positive nodes and 2 had distal metastases. The case presented here is unique in an additional aspect: the contralateral breast harbored lobular breast carcinoma 10 years after mastectomy of the first malignancy. Bilateral breast disease resulting in bilateral mastectomies over long-term follow-up, as in the case presented here, was reported in 3 of 33 cases.

Immunohistochemical and ultrastructural analysis of a mammary cystic hypersecretory carcinoma

Cystic hypersecretory carcinoma (CHC) is a rare variant of intraductal carcinoma. A CHC in a 50-year-old woman was excised and processed for light and electron microscopy and immunohistochemistry. The tumor had a marked cystic appearance. The walls of the cysts consisted of epithelial and myoepithelial cells and a well-developed basement membrane. The epithelial cells contained well-developed rough-surfaced endoplasmatic reticulum and Golgi apparatus. Secretory granules were not detected, with the exception of a few mucus-producing cells. The secretion was predominantly homogenous, reminiscent of thyroid colloid, and demonstrated distinct PAS positivity. The cells displayed a strong labeling with epithelial membrane antigen (EMA) and EMA-positive structures were observed within the intraluminal secretion, too. Some of these were stained by alcian blue. In addition, the colloid-like material was admixed with mucus showing a filamentous internal structure and lipid droplets resulting in some heterogenity of the secretion. Intraductal micropapillary proliferation in some of the cysts and adjacent nondistended ducts was a further defining feature of the tumor. Steroid hormone receptor and Ki-67 proliferation marker immuno his Tochemistry showed scattered positivity among the tumor cells. These results are in agreement with previous observations and further clarify the nature of this low-grade in situ cancer.

Cystic Hypersecretory Duct Carcinoma of the Breast:A Case Reprot Describing the Cytologic Features.

We report the clinical, cytological and pathological features of so-called cystic hypersecretory duct carcinoma occurring in a 60-year-old Japanese woman. The tumor mainfested a multicystic mass ultrasonographically, and aspiration biopsy cytology revealed atypical ductal epithelial cells with vacuolar cytoplasm. A modified radical mastectomy was performed. Histologically, the lesion was charcterized by many dilated ducts containing eosinophilic secretions, which resembled thyroid colloid. The ducts were lined by an intraductal micropapillary carcinoma with hobnail-shaped cells, and were positive for lactalbumin immunohistochemically. Additionally, a so-called cystic hypersecretory hyperplasia was seen in the surrounding breast parenchyma. Although a direct transition from the hyperplasia to the carcinoma was not proved, a close relationship between the two lesions was suggested.

Cystic hypersecretory hyperplasia and cystic hypersecretory duct carcinoma of the breast. Pathology, therapy, and follow-up of 39 patients.

The study documented in this article was performed to define the clinical and morphologic features of cystic hypersecretory carcinoma (CHC) and cystic hypersecretory hyperplasia (CHH) of the breast. Both lesions are characterized by the formation of cystically dilated ducts containing a homogeneous eosinophilic secretion that resembles thyroid colloid. In most cases CHC features micropapillary intraductal carcinoma, occasionally giving rise to a high-grade, invasive carcinoma that is absent from CHH. Electron microscopy of the cystic component in one case of CHC showed ultrastructural characteristics of metabolically active cells, but few secretory granules. Twenty-nine patients with CHC were observed for up to 23 years. Twenty-five women who had intraductal carcinoma were well or died of other causes. Of the four patients who had invasive carcinoma, one died 9 months after being diagnosed as having systemic metastases, and the other three remained disease-free. Ten cases of CHH were reviewed; follow-up information was available for eight patients for up to 5 years. Six women were alive and well. One woman died of contralateral invasive carcinoma, and a second was well having had a modified radical mastectomy for a separate, coexisting intraductal carcinoma in the same breast. These findings indicate that intraductal CHC has the same low-grade clinical course as other forms of intraductal carcinoma. Because invasive carcinoma arising in this setting appears to be histologically high-grade, it is important to recognize and promptly treat the lesion while still in its in situ phase. Foci with the appearance of CHH may be found in CHC, but in this study progression from CHH to CHC was not observed. A thorough histological examination is needed to distinguish between CHC and CHH. Lesions judged to be CHH are adequately treated by wide excision. Additional long-term, follow-up studies will be necessary to define the precancerous potential of CHH.