The CHEK2*1100delC Mutation and Adolescent Breast Cancer: A Case Report of Breast Cancer in a 19-Year-Old and a Review of the Literature

Breast Care ◽  
2021 ◽  
pp. 1-5
Author(s):  
Tahereh Soleimani ◽  
Abigail J. Engwall ◽  
Corrie Bourdon ◽  
Mohammad A. Torabi ◽  
Thais Fortes
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Family History ◽  
Tissue Expander ◽  
Breast Mass ◽  
Tumor Board ◽  
Bilateral Mastectomy ◽  
Axillary Lymph ◽  
Chek2 1100Delc ◽  
History Of

Background: Breast cancer (BC) is the most common non-skin cancer affecting women but is extremely uncommon in the adolescent population. Genetic inheritance has been linked to <10% of BCs. CHEK2 is an uncommon genetic variant with a reported incidence of 0.3–1.6% in the general population and 4.9–5.7% in those with a family history of BC. Commonly, this mutation presents in females of European descent and is rare in North America. Case Presentation: A 19-year-old Caucasian female presented with breast pain and mass. She had an extensive family history of cancer, as well as a known CHEK2 gene mutation in 2 of her paternal aunts. Ultrasound and MRI confirmed a 4.5-cm mass with an enlarged right axillary lymph node. Image guided biopsy of the breast mass showed ER/PR-positive grade 1 invasive mucinous ductal cancer. Genetic testing confirmed an isolated CHEK2 mutation. After discussion by a multidisciplinary tumor board, the patient deferred bilateral mastectomy and underwent a right mastectomy with sentinel-lymph-node biopsy and immediate tissue-expander reconstruction. Final pathology confirmed ER/PR-positive Stage 1A (pT2 pN0 M0) invasive mucinous carcinoma. Chemotherapy was not recommended. Summary: Malignant adolescent breast masses are relatively rare and CHEK2 does not typically present at younger than 20 years of age. While there are many different differential diagnoses when evaluating an adolescent with a breast mass, we wish to increase providers’ suspicion of malignancy, specifically in those individuals who have a strong family history of BC and the CHEK2*1100delC mutation.

Do All Women with Abnormal Sonographic Axillary Lymph Nodes Need a Biopsy?

2016 ◽  
Vol 67 (2) ◽  
pp. 173-178 ◽  
Author(s):  
Yoav Amitai ◽  
Tehillah Menes ◽  
Galit Aviram ◽  
Orit Golan
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Lymph Nodes ◽  
Axillary Lymph Node ◽  
Needle Biopsy ◽  
Systemic Disease ◽  
Axillary Lymph Nodes ◽  
Axillary Lymph ◽  
History Of ◽  
Axillary Mass

Purpose With the increased use of breast ultrasound for different indications, sonographically abnormal axillary lymph nodes are not a rare finding. We examined clinical and imaging characteristics in correlation with pathological reports of the sonographic guided biopsies to assess the yield of needle biopsy of these nodes. Methods Clinical, imaging and pathology data were collected for 171 consecutive patients who underwent sonographic guided needle biopsy of an abnormal lymph node between 2008 and 2013. Malignancy rates were examined for different clinical settings: palpable axillary mass, previous history of breast cancer, findings suggestive of a systemic disease, and those with a breast finding of low suspicion or an incidental abnormal axillary lymph node. Patients with newly diagnosed breast cancer were excluded. Results Twelve patients (7%) were found to have a malignancy on their axillary lymph node biopsy. Malignancy rates increased with age, and varied with clinical presentation: Axillary mass (8, 26%); history of breast cancer (2, 11%); systemic disease (0%) and breast finding of low suspicion or incidental abnormal lymph node on screening (1, 1%). Low rates of malignancy were found when the cortex was <6 mm (1, 0.8%). The most important imaging finding associated with malignancy was lack of a preserved hilum, in which case almost a third (10, 29%) of the biopsies were malignant. Only 1 of 89 women with a breast finding of low suspicion or an incidental abnormal axillary lymph node was found to have malignancy. In this case the lymph node had no hilum. Conclusions In women without breast cancer, a highly suspicious breast mass or an axillary mass, more stringent criteria should be used when evaluating an abnormal axillary lymph node on sonography, as the malignancy rates are very low (1%).

scholarly journals Pathologic Evaluation of Breast Tissue From Transmasculine Individuals Undergoing Gender-Affirming Chest Masculinization

2019 ◽  
Vol 144 (7) ◽  
pp. 888-893 ◽  
Author(s):  
Andrea Hernandez ◽  
Christopher J. Schwartz ◽  
Dana Warfield ◽  
Kristen M. Thomas ◽  
Rachel Bluebond-Langner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Breast Tissue ◽  
Lobular Carcinoma ◽  
Reduction Mammoplasty ◽  
Bilateral Mastectomy ◽  
Androgen Therapy ◽  
Pathologic Evaluation ◽  
Pathologic Findings ◽  
History Of

Context.— Bilateral mastectomy for chest masculinization is one of the gender-affirming procedures for transmasculine individuals. Objective.— To optimize gross handling protocols and assess histopathologic findings in transmasculine breast tissue specimens. Design.— We identified all gender-affirming mastectomies from 2015 to 2018. We sequentially identified reduction mammoplasty (RM) cases for macromastia from the same period as control. Significant findings were defined as atypical ductal or lobular hyperplasia (ADH, ALH), ductal or lobular carcinoma in situ (DCIS, LCIS), or invasive carcinoma. Results.— Significant findings were present in 6 of 211 gender-affirming mastectomies (2.8%) as follows: ADH (n = 5) and LCIS together with ALH (n = 1). By comparison, 19 of 273 RM specimens (7%) yielded significant findings as follows: ALH (n = 11), ADH (n = 4), LCIS (n = 2), DCIS (n = 1), and invasive lobular carcinoma (n = 1). In the gender-affirming group, 142 transmen underwent androgen therapy before surgery, of whom 2 had significant pathologic findings. Thirty and 41 individuals had a family history of breast cancer in the gender-affirming and RM group, of whom 1 and 3 individuals had significant pathologic findings, respectively. Conclusions.— Our study demonstrates that we handle transmasculine mastectomy specimens by examining 2.8 times more slides on average than for RMs, with a 2.5 times lower rate of significant pathologic findings. Prior family history of breast cancer or the use of androgen therapy before surgery in gender-affirming individuals did not increase the risk of identifying significant breast lesions. We recommend submitting 4 tissue blocks per mastectomy for individuals undergoing gender-affirming breast surgery.

scholarly journals False-negative frozen section of sentinel nodes in early breast cancer (cT1-2N0) patients

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhu-Jun Loh ◽  
Kuo-Ting Lee ◽  
Ya-Ping Chen ◽  
Yao-Lung Kuo ◽  
Wei-Pang Chung ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Early Breast Cancer ◽  
False Negative ◽  
Disease Free Survival ◽  
Axillary Lymph Nodes ◽  
Axillary Lymph ◽  
Frozen Sections ◽  
Sentinel Nodes ◽  
Tumor Emboli

Abstract Background Sentinel lymph node biopsy (SLNB) is the standard approach for the axillary region in early breast cancer patients with clinically negative nodes. The present study investigated patients with false-negative sentinel nodes in intraoperative frozen sections (FNSN) using real-world data. Methods A case–control study with a 1:3 ratio was conducted. FNSN was determined when sentinel nodes (SNs) were negative in frozen sections but positive for metastasis in formalin-fixed paraffin-embedded (FFPE) sections. The control was defined as having no metastasis of SNs in both frozen and FFPE sections. Results A total of 20 FNSN cases and 60 matched controls from 333 SLNB patients were enrolled between April 1, 2005, and November 31, 2009. The demographics and intrinsic subtypes of breast cancer were similar between the FNSN and control groups. The FNSN patients had larger tumor sizes on preoperative mammography (P = 0.033) and more lymphatic tumor emboli on core biopsy (P < 0.001). Four FNSN patients had metastasis in nonrelevant SNs. Another 16 FNSN patients had benign lymphoid hyperplasia of SNs in frozen sections and metastasis in the same SNs from FFPE sections. Micrometastasis was detected in seven of 16 patients, and metastases in nonrelevant SNs were recognized in two patients. All FNSN patients underwent a second operation with axillary lymph node dissection (ALND). After a median follow-up of 143 months, no FNSN patients developed breast cancer recurrence. The disease-free survival, breast cancer-specific survival, and overall survival in FNSN were not inferior to those in controls. Conclusions Patients with a larger tumor size and more lymphatic tumor emboli have a higher incidence of FNSN. However, the outcomes of FNSN patients after completing ALND were noninferior to those without SN metastasis. ALND provides a correct staging for patients with metastasis in nonsentinel axillary lymph nodes.

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